Haemophilia
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Hemophilia
Hemophilia is a genetic bleeding disorder caused by mutations in genes responsible for blood clotting factors VIII, IX or XI. This leads to prolonged bleeding from cuts or wounds. There are three main types - hemophilia A is the most common type caused by factor VIII deficiency. Hemophilia B or Christmas disease results from factor IX deficiency. Hemophilia C is a rare form caused by factor XI deficiency. Treatment involves replacing the missing clotting factor through infusions to control bleeding. Complications can include joint damage and life-threatening internal bleeding if not properly managed.
Hemophilia by Suhasis Mondal
This document discusses hemophilia, including:
1. Hemophilia is an inherited bleeding disorder caused by deficiencies in coagulation factor VIII or IX.
2. There are two main types - Hemophilia A caused by factor VIII deficiency and Hemophilia B caused by factor IX deficiency.
3. Treatment involves replacing the missing clotting factor through products derived from plasma or recombinant sources to control bleeding and prevent joint damage. Regular prophylactic treatment starting in early childhood has been shown to significantly reduce long-term joint complications.
Hemophilia : causes, symptoms, diagnosis and treatment
Hemophilia is a genetic bleeding disorder in which body loses the ability to stop bleeding due to low levels or absence of proteins known as ‘’clotting factors’’ which are necessary for clotting of blood. Hemophilia leads to excessive bleeding.
Hemophilia
Hemophilia is a rare inherited blood clotting disorder caused by deficient blood proteins. It is passed down from mother to son through genes on the X chromosome. Symptoms include prolonged bleeding from cuts or wounds and internal bleeding in joints that can lead to arthritis if untreated. Physicians test for hemophilia by ruling out other disorders and determining which clotting factor is deficient. About 1 in 4,000 males have the disorder. Treatment involves regularly injecting purified clotting factors to prevent or stop bleeding episodes.
Hemophilia ppt
This document discusses hemophilia, an inherited bleeding disorder caused by mutations in genes coding for blood clotting factors. It describes the history and genetics of the disease, including that hemophilia is X-linked recessive and mostly affects males. The main types are hemophilia A caused by factor VIII deficiency and hemophilia B caused by factor IX deficiency. Symptoms range from mild to severe bleeding. Treatment involves replacement of the missing clotting factor through therapies like fresh or concentrated plasma.
Hemophilia
Hemophilia is a genetic bleeding disorder caused by deficiencies in clotting factors VIII or IX. It is inherited in an X-linked recessive pattern and primarily affects males. Symptoms range from easy bruising to spontaneous internal bleeding that can be life-threatening. Treatment involves replacement of the missing clotting factor through infusions to prevent or treat bleeding episodes. Repeated bleeding can lead to chronic joint damage over time without proper management.
Heamophilia
Hemophilia is a common hereditary coagulation disorder due to deficiency or reduce activity of clotting factor VIII or clotting factor IX.
This disorder is a X- linked recessive disorder.
Types:
Hemophilia A- deficiency of clotting factors VIII
Hemophilia B- deficiency of clotting factors IX
Hemophilia C- deficiency of clotting factors XI
Parahaemophilia- deficiency of clotting factor V
Causes of hemophilia
Hemophilia has a sex-linked recessive inheritance.
In most cases Hemophilia caused by a mutation in a gene that encodes for one of the clotting factors .
Since the hemophilia gene is located on the X chromosome, Hemophilia usually occurs in males, and Female is the carrier of hemophilia.
Diagnosis
Complete blood cell count
Coagulation studies
FVIII assay
Normal values for FVIII assays are 50-150%. Values in hemophilia are as follows:
Mild: >5%
Moderate: 1-5%
Severe: <1%
Treatment of Hemophilia
Other Types of Treatment
Desmopressin (DDAVP)
Antifibrinolytic Medicines
Vaccinations- hepatitis A and B.
Gene Therapy
Gene Therapy
New Drugs for Hemophilia treatment
New Drugs for Hemophilia treatment
Bangladesh perspectives
Bangladesh would have 10800 hemophiliacs.
But, initially the patients does not concern about hemophilia.
Patients are usually diagnosed only after bleeding episode and sometimes the episode are causes serious consequences.
Conclusion
Primary diagnosis with the success of gene therapy and availability of the new bioengineered products the prospect of the hemophiliacs will be brighter in near future.
Hemophilia
Hemophilia is a bleeding disorder that slows down the blood clotting process. People who have hemophilia often have longer bleeding after an injury or surgery. People who have severe hemophilia have spontaneous bleeding into the joints and muscles. Hemophilia occurs more commonly in males than in females.The two most common types of hemophilia are hemophilia A (also known as classic hemophilia) and hemophilia B (also known as Christmas disease). People who have hemophilia A have low levels of a blood clotting factor called factor eight (FVIII). People who have hemophilia B have low levels of factor nine (FIX).
The two types of hemophilia are caused by permanent gene changes (mutations) in different genes. Mutations in the FVIII gene cause hemophilia A. Mutations in the FIX gene cause hemophilia B. Proteins made by these genes have an important role in the blood clotting process. Mutations in either gene keep clots from forming when there is an injury, causing too much bleeding that can be difficult to stop
Hemophilia A is the most common type of this condition. One in 5,000 to 10,000 males worldwide have hemophilia A. Hemophilia B is less common, and it affects 1 in 20,000 to 34,500 males worldwide.
Recommended
Hemophilia
Hemophilia is a genetic bleeding disorder caused by mutations in genes responsible for blood clotting factors VIII, IX or XI. This leads to prolonged bleeding from cuts or wounds. There are three main types - hemophilia A is the most common type caused by factor VIII deficiency. Hemophilia B or Christmas disease results from factor IX deficiency. Hemophilia C is a rare form caused by factor XI deficiency. Treatment involves replacing the missing clotting factor through infusions to control bleeding. Complications can include joint damage and life-threatening internal bleeding if not properly managed.
Hemophilia by Suhasis Mondal
This document discusses hemophilia, including:
1. Hemophilia is an inherited bleeding disorder caused by deficiencies in coagulation factor VIII or IX.
2. There are two main types - Hemophilia A caused by factor VIII deficiency and Hemophilia B caused by factor IX deficiency.
3. Treatment involves replacing the missing clotting factor through products derived from plasma or recombinant sources to control bleeding and prevent joint damage. Regular prophylactic treatment starting in early childhood has been shown to significantly reduce long-term joint complications.
Hemophilia : causes, symptoms, diagnosis and treatment
Hemophilia is a genetic bleeding disorder in which body loses the ability to stop bleeding due to low levels or absence of proteins known as ‘’clotting factors’’ which are necessary for clotting of blood. Hemophilia leads to excessive bleeding.
Hemophilia
Hemophilia is a rare inherited blood clotting disorder caused by deficient blood proteins. It is passed down from mother to son through genes on the X chromosome. Symptoms include prolonged bleeding from cuts or wounds and internal bleeding in joints that can lead to arthritis if untreated. Physicians test for hemophilia by ruling out other disorders and determining which clotting factor is deficient. About 1 in 4,000 males have the disorder. Treatment involves regularly injecting purified clotting factors to prevent or stop bleeding episodes.
Hemophilia ppt
This document discusses hemophilia, an inherited bleeding disorder caused by mutations in genes coding for blood clotting factors. It describes the history and genetics of the disease, including that hemophilia is X-linked recessive and mostly affects males. The main types are hemophilia A caused by factor VIII deficiency and hemophilia B caused by factor IX deficiency. Symptoms range from mild to severe bleeding. Treatment involves replacement of the missing clotting factor through therapies like fresh or concentrated plasma.
Hemophilia
Hemophilia is a genetic bleeding disorder caused by deficiencies in clotting factors VIII or IX. It is inherited in an X-linked recessive pattern and primarily affects males. Symptoms range from easy bruising to spontaneous internal bleeding that can be life-threatening. Treatment involves replacement of the missing clotting factor through infusions to prevent or treat bleeding episodes. Repeated bleeding can lead to chronic joint damage over time without proper management.
Heamophilia
Hemophilia is a common hereditary coagulation disorder due to deficiency or reduce activity of clotting factor VIII or clotting factor IX.
This disorder is a X- linked recessive disorder.
Types:
Hemophilia A- deficiency of clotting factors VIII
Hemophilia B- deficiency of clotting factors IX
Hemophilia C- deficiency of clotting factors XI
Parahaemophilia- deficiency of clotting factor V
Causes of hemophilia
Hemophilia has a sex-linked recessive inheritance.
In most cases Hemophilia caused by a mutation in a gene that encodes for one of the clotting factors .
Since the hemophilia gene is located on the X chromosome, Hemophilia usually occurs in males, and Female is the carrier of hemophilia.
Diagnosis
Complete blood cell count
Coagulation studies
FVIII assay
Normal values for FVIII assays are 50-150%. Values in hemophilia are as follows:
Mild: >5%
Moderate: 1-5%
Severe: <1%
Treatment of Hemophilia
Other Types of Treatment
Desmopressin (DDAVP)
Antifibrinolytic Medicines
Vaccinations- hepatitis A and B.
Gene Therapy
Gene Therapy
New Drugs for Hemophilia treatment
New Drugs for Hemophilia treatment
Bangladesh perspectives
Bangladesh would have 10800 hemophiliacs.
But, initially the patients does not concern about hemophilia.
Patients are usually diagnosed only after bleeding episode and sometimes the episode are causes serious consequences.
Conclusion
Primary diagnosis with the success of gene therapy and availability of the new bioengineered products the prospect of the hemophiliacs will be brighter in near future.
Hemophilia
Hemophilia is a bleeding disorder that slows down the blood clotting process. People who have hemophilia often have longer bleeding after an injury or surgery. People who have severe hemophilia have spontaneous bleeding into the joints and muscles. Hemophilia occurs more commonly in males than in females.The two most common types of hemophilia are hemophilia A (also known as classic hemophilia) and hemophilia B (also known as Christmas disease). People who have hemophilia A have low levels of a blood clotting factor called factor eight (FVIII). People who have hemophilia B have low levels of factor nine (FIX).
The two types of hemophilia are caused by permanent gene changes (mutations) in different genes. Mutations in the FVIII gene cause hemophilia A. Mutations in the FIX gene cause hemophilia B. Proteins made by these genes have an important role in the blood clotting process. Mutations in either gene keep clots from forming when there is an injury, causing too much bleeding that can be difficult to stop
Hemophilia A is the most common type of this condition. One in 5,000 to 10,000 males worldwide have hemophilia A. Hemophilia B is less common, and it affects 1 in 20,000 to 34,500 males worldwide.
Hemophilia
Hemophilia is a rare bleeding disorder caused by missing or defective clotting factors, resulting in an inability to form blood clots. There are three main types: hemophilia A caused by factor VIII deficiency, hemophilia B caused by factor IX deficiency, and acquired hemophilia which is autoimmune in nature. Symptoms include excessive bleeding from minor injuries, joints, and internal organs. Diagnosis involves blood tests to check clotting factors and rule out other causes. Treatment focuses on replacing the missing clotting factor through infusions to control bleeding and prevent joint damage. Management also includes medications, physical therapy, avoiding risk factors, and addressing nursing problems like infection risk and fluid imbalance.
Thrombocytopenia
This document provides definitions and information about thrombocytopenia (platelet count <150,000/ml). It discusses increased bleeding risk with very low platelet counts and common clinical presentations. Potential causes of thrombocytopenia include decreased platelet production, increased platelet destruction, dilutional effects, and pseudothrombocytopenia. Specific conditions covered in detail include immune thrombocytopenic purpura, heparin-induced thrombocytopenia, thrombotic thrombocytopenic purpura-hemolytic uremic syndrome. Evaluation, diagnosis, and treatment approaches are outlined for the different conditions.
Student Work Hemophilia
Hemophilia is a genetic bleeding disorder caused by a defect in the genes responsible for blood clotting factors VIII or IX. It is usually inherited and affects boys more than girls. Symptoms include prolonged bleeding after injuries or medical procedures. Treatment involves replacing the missing clotting factor through infusions of donated blood products. Current research is developing new formulations of clotting factors that can be stored at room temperature to improve accessibility.
Hemophilia
Hemophilia is a genetic bleeding disorder caused by low levels of certain clotting factors in the blood. There are two main types, hemophilia A caused by a factor VIII deficiency and hemophilia B caused by a factor IX deficiency. Symptoms include prolonged bleeding after injuries or surgery. Treatment involves replacing the missing clotting factor through transfusions or injections. Nurses play an important role in managing hemophilia through emotional support, applying pressure to bleeding sites, administering clotting factor treatments, restricting activity after bleeding, and educating patients.
Bleeding disorder
Discussed the conditions which leads to excessive bleeding in Humans.includes Hemophilia, Thrombocytopenia,DIC and vitamin k deficiency.
Hemophilia
This document provides information about hemophilia, including:
- Hemophilia is an inherited bleeding disorder caused by deficiencies in specific clotting factors like VIII or IX.
- There are three main types - A, B, and C - determined by which clotting factor is deficient.
- It is passed from parents to children via genes on the X chromosome.
- Symptoms include bruising and bleeding, especially into joints or muscles. Treatment aims to prevent bleeding complications through blood transfusions or replacement of the deficient clotting factor.
Hemophilia ppt lakshmi
Hemophilia is an inherited bleeding disorder caused by deficient clotting factors VIII or IX. It is primarily found in males but can be transmitted by female carriers. Hemophilia A is the most common type, accounting for 80-85% of cases and is caused by factor VIII deficiency. Hemophilia B or Christmas disease accounts for 15-20% of cases and results from factor IX deficiency. Diagnosis involves prolonged aPTT and bleeding times as well as low factor VIII or IX levels. Treatment focuses on replacing the missing clotting factor through infusions while also managing pain and preventing injuries.
Hemophilia lecture by dr. tariq saeed
Hemophilia is a rare bleeding disorder caused by inherited deficiencies in coagulation factors VIII or IX. Hemophilia A is caused by a factor VIII deficiency while Hemophilia B is caused by a factor IX deficiency. The severity of hemophilia depends on the level of functioning clotting factor, and can range from mild to severe. Joint bleeds are common, which can progress to chronic joint damage if not properly treated with clotting factor replacement therapy. Management involves factor replacement therapy, education, and physical therapy to prevent long-term complications such as chronic arthropathy.
Hemophilia (a) - Pediatrics
Hemophilia is a hereditary bleeding disorder caused by deficiencies in clotting factors VIII or IX. It is passed from mothers to sons and manifests as prolonged or excessive bleeding from minor injuries. The document discusses the definition, incidence, pathophysiology, genetics, clinical manifestations including hemarthrosis and treatment including factor replacement of hemophilia. It is called the "Royal Disease" because Queen Victoria was a carrier who introduced the gene into European royal families, including the Russian Tsars, affecting heirs to those thrones.
Haemophilia
Bleeding for too long? Seek for Help immediately. Blood clotting problem is real and one can be assisted.
haemophilia.pptx
Hemophilia is a hereditary bleeding disorder caused by deficiencies in clotting factors VIII or IX. It is transmitted through females to males and results in longer bleeding times after injuries or spontaneous bleeding in joints and muscles. Diagnosis involves measuring clotting factor levels, with types A and B defined by deficiencies in factors VIII and IX respectively. Management focuses on preventing bleeding episodes through local measures, replacement therapy using concentrates of missing clotting factors, and drugs like desmopressin that stimulate factor release.
Hemophilia
This document discusses disorders of hemostasis, focusing on hemophilia. It defines hemophilia as a congenital deficiency of either factor VIII (hemophilia A) or factor IX (hemophilia B). It describes the inheritance, physiology, pathophysiology, clinical presentation, diagnosis, and management of hemophilia. Management involves controlling or preventing bleeding episodes through replacement therapy, prophylactic therapy, and drug therapy. Complications can arise due to the disease itself or treatment. Long term management requires an interdisciplinary approach including psychological support, genetic counseling, and involvement of hemophilia associations.
Bleeding and clotting disorders
This document discusses bleeding and clotting disorders. It describes various causes of excessive bleeding such as vitamin K deficiency, hemophilia, and thrombocytopenia. It also discusses thromboembolic conditions that result from blood clots forming in vessels. Tests for bleeding disorders are mentioned, including bleeding time, clotting time, and prothrombin time. Therapies for certain conditions are also noted, such as using tissue plasminogen activator to dissolve blood clots or treating hemophilia with purified Factor VIII injections.
Short talk on hemophilia
Hemophilia is a genetic bleeding disorder caused by deficiencies in coagulation factors VIII or IX. It affects males primarily and can range from mild to severe. The main types are hemophilia A (factor VIII deficiency) and hemophilia B (factor IX deficiency). Treatment involves replacing the missing clotting factor through prophylactic or on-demand regimens to prevent or treat bleeding episodes. Complications can include hemarthrosis, joint damage, fractures, and pseudotumors, so treatment seeks to maintain adequate factor levels and address medical issues promptly. Proper diagnosis and laboratory testing are needed to determine severity and guide personalized management.
Hemophilia
Hemophilia is a hereditary bleeding disorder caused by a deficiency of specific clotting factors, which prevents normal blood clotting. The two main types are hemophilia A caused by a factor VIII deficiency and hemophilia B caused by a factor IX deficiency. Symptoms include excessive bleeding, easy bruising, and bleeding into joints. It is usually passed from mother to son and is treated through replacement of the deficient clotting factor. Nursing care focuses on prevention of injury, control of bleeding episodes, and prevention of joint damage.
Hemophilia
Hemophilia is an X-linked recessive bleeding disorder caused by a deficiency of coagulation factor VIII (Hemophilia A) or factor IX (Hemophilia B). It results in bleeding into joints, muscles, and other tissues. Repeated bleeding into joints (hemarthrosis) can lead to hemophilic arthropathy, characterized by synovial proliferation and cartilage/bone destruction. Joints most commonly affected include the knees, elbows, ankles, and hips. Diagnosis is based on coagulation factor testing and imaging may show joint effusion, osteopenia, and erosions. Treatment involves replacement of the missing coagulation factor through medications or transfusions.
Hemophilia,Clinical Presentation, Types,molecular Basis And Inheritance,overv...
Hemophilia,Clinical Presentation, Types,molecular Basis And Inheritance,overv...imam univarsity , college of medicine .
1-Overview of clotting mechanisms.
2-different lab investigation for bleeding disorder.
3-hemophilia, clinical presentation and its types.
4-Molecular basis and inheritance of hemophilia.
5-mechanisims of family and patient pedigree.Hemophilia
a powerpoint on hemophilia i needed to make.
**if you want to join an online class if you are interested in history, science, math, english, and other things, join my class!!**
Hereditary spherocytosis
This document discusses hereditary spherocytosis (HS), an inherited disorder caused by defects in the red blood cell membrane skeleton. HS is characterized by spherical red blood cells that are less deformable and vulnerable to splenic sequestration and destruction. The defects are primarily in proteins like ankyrin, band 3, spectrin or band 4.2 that make up the membrane skeleton. This leads to a reduced red blood cell life span of 10-20 days instead of the normal 120 days. Clinical features include anemia, splenomegaly, jaundice, and hemolytic crises from infections. Diagnosis involves tests like peripheral smear, bone marrow examination, and osmotic fragility testing. Treatment
CME: Bleeding Disorders - Clinical Features
The document summarizes various bleeding disorders including their clinical features and classifications. Platelet disorders can cause petechiae and purpurae due to decreased platelet production, increased destruction, or sequestration. Clotting factor deficiencies like hemophilia A and B are inherited and cause hemarthroses, hematomas, and bleeding after trauma. Von Willebrand disease is the most common inherited bleeding disorder caused by a defect in von Willebrand factor.
Hemophilia
Hemophilia A is an inherited blood disorder where the blood does not clot normally due to a lack of clotting factor VIII. Symptoms include spontaneous bleeding, bruising, joint pain and swelling, and internal bleeding. The disease is passed down from mothers to sons on the X chromosome. Treatment involves replacing the missing clotting factor through intravenous injections or nasal spray medication. There is no cure for hemophilia, but genetic counseling can help determine risk for children.
Hemophilia
Hemophilia is a genetic disorder that impairs the body's ability to control blood clotting. It is caused by mutations in genes that code for proteins essential for blood clotting. The two main types are hemophilia A, caused by a factor VIII deficiency, and hemophilia B, caused by a factor IX deficiency. Hemophilia is diagnosed through family history, blood tests, and bleeding symptoms that can range from mild bruising to heavy internal bleeding. Treatment focuses on replacing the missing clotting factor through infusions or drugs like desmopressin. Hemophilia affects about 1 in 5,000 male births.
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What's hot
Hemophilia
Hemophilia is a rare bleeding disorder caused by missing or defective clotting factors, resulting in an inability to form blood clots. There are three main types: hemophilia A caused by factor VIII deficiency, hemophilia B caused by factor IX deficiency, and acquired hemophilia which is autoimmune in nature. Symptoms include excessive bleeding from minor injuries, joints, and internal organs. Diagnosis involves blood tests to check clotting factors and rule out other causes. Treatment focuses on replacing the missing clotting factor through infusions to control bleeding and prevent joint damage. Management also includes medications, physical therapy, avoiding risk factors, and addressing nursing problems like infection risk and fluid imbalance.
Thrombocytopenia
This document provides definitions and information about thrombocytopenia (platelet count <150,000/ml). It discusses increased bleeding risk with very low platelet counts and common clinical presentations. Potential causes of thrombocytopenia include decreased platelet production, increased platelet destruction, dilutional effects, and pseudothrombocytopenia. Specific conditions covered in detail include immune thrombocytopenic purpura, heparin-induced thrombocytopenia, thrombotic thrombocytopenic purpura-hemolytic uremic syndrome. Evaluation, diagnosis, and treatment approaches are outlined for the different conditions.
Student Work Hemophilia
Hemophilia is a genetic bleeding disorder caused by a defect in the genes responsible for blood clotting factors VIII or IX. It is usually inherited and affects boys more than girls. Symptoms include prolonged bleeding after injuries or medical procedures. Treatment involves replacing the missing clotting factor through infusions of donated blood products. Current research is developing new formulations of clotting factors that can be stored at room temperature to improve accessibility.
Hemophilia
Hemophilia is a genetic bleeding disorder caused by low levels of certain clotting factors in the blood. There are two main types, hemophilia A caused by a factor VIII deficiency and hemophilia B caused by a factor IX deficiency. Symptoms include prolonged bleeding after injuries or surgery. Treatment involves replacing the missing clotting factor through transfusions or injections. Nurses play an important role in managing hemophilia through emotional support, applying pressure to bleeding sites, administering clotting factor treatments, restricting activity after bleeding, and educating patients.
Bleeding disorder
Discussed the conditions which leads to excessive bleeding in Humans.includes Hemophilia, Thrombocytopenia,DIC and vitamin k deficiency.
Hemophilia
This document provides information about hemophilia, including:
- Hemophilia is an inherited bleeding disorder caused by deficiencies in specific clotting factors like VIII or IX.
- There are three main types - A, B, and C - determined by which clotting factor is deficient.
- It is passed from parents to children via genes on the X chromosome.
- Symptoms include bruising and bleeding, especially into joints or muscles. Treatment aims to prevent bleeding complications through blood transfusions or replacement of the deficient clotting factor.
Hemophilia ppt lakshmi
Hemophilia is an inherited bleeding disorder caused by deficient clotting factors VIII or IX. It is primarily found in males but can be transmitted by female carriers. Hemophilia A is the most common type, accounting for 80-85% of cases and is caused by factor VIII deficiency. Hemophilia B or Christmas disease accounts for 15-20% of cases and results from factor IX deficiency. Diagnosis involves prolonged aPTT and bleeding times as well as low factor VIII or IX levels. Treatment focuses on replacing the missing clotting factor through infusions while also managing pain and preventing injuries.
Hemophilia lecture by dr. tariq saeed
Hemophilia is a rare bleeding disorder caused by inherited deficiencies in coagulation factors VIII or IX. Hemophilia A is caused by a factor VIII deficiency while Hemophilia B is caused by a factor IX deficiency. The severity of hemophilia depends on the level of functioning clotting factor, and can range from mild to severe. Joint bleeds are common, which can progress to chronic joint damage if not properly treated with clotting factor replacement therapy. Management involves factor replacement therapy, education, and physical therapy to prevent long-term complications such as chronic arthropathy.
Hemophilia (a) - Pediatrics
Hemophilia is a hereditary bleeding disorder caused by deficiencies in clotting factors VIII or IX. It is passed from mothers to sons and manifests as prolonged or excessive bleeding from minor injuries. The document discusses the definition, incidence, pathophysiology, genetics, clinical manifestations including hemarthrosis and treatment including factor replacement of hemophilia. It is called the "Royal Disease" because Queen Victoria was a carrier who introduced the gene into European royal families, including the Russian Tsars, affecting heirs to those thrones.
Haemophilia
Bleeding for too long? Seek for Help immediately. Blood clotting problem is real and one can be assisted.
haemophilia.pptx
Hemophilia is a hereditary bleeding disorder caused by deficiencies in clotting factors VIII or IX. It is transmitted through females to males and results in longer bleeding times after injuries or spontaneous bleeding in joints and muscles. Diagnosis involves measuring clotting factor levels, with types A and B defined by deficiencies in factors VIII and IX respectively. Management focuses on preventing bleeding episodes through local measures, replacement therapy using concentrates of missing clotting factors, and drugs like desmopressin that stimulate factor release.
Hemophilia
This document discusses disorders of hemostasis, focusing on hemophilia. It defines hemophilia as a congenital deficiency of either factor VIII (hemophilia A) or factor IX (hemophilia B). It describes the inheritance, physiology, pathophysiology, clinical presentation, diagnosis, and management of hemophilia. Management involves controlling or preventing bleeding episodes through replacement therapy, prophylactic therapy, and drug therapy. Complications can arise due to the disease itself or treatment. Long term management requires an interdisciplinary approach including psychological support, genetic counseling, and involvement of hemophilia associations.
Bleeding and clotting disorders
This document discusses bleeding and clotting disorders. It describes various causes of excessive bleeding such as vitamin K deficiency, hemophilia, and thrombocytopenia. It also discusses thromboembolic conditions that result from blood clots forming in vessels. Tests for bleeding disorders are mentioned, including bleeding time, clotting time, and prothrombin time. Therapies for certain conditions are also noted, such as using tissue plasminogen activator to dissolve blood clots or treating hemophilia with purified Factor VIII injections.
Short talk on hemophilia
Hemophilia is a genetic bleeding disorder caused by deficiencies in coagulation factors VIII or IX. It affects males primarily and can range from mild to severe. The main types are hemophilia A (factor VIII deficiency) and hemophilia B (factor IX deficiency). Treatment involves replacing the missing clotting factor through prophylactic or on-demand regimens to prevent or treat bleeding episodes. Complications can include hemarthrosis, joint damage, fractures, and pseudotumors, so treatment seeks to maintain adequate factor levels and address medical issues promptly. Proper diagnosis and laboratory testing are needed to determine severity and guide personalized management.
Hemophilia
Hemophilia is a hereditary bleeding disorder caused by a deficiency of specific clotting factors, which prevents normal blood clotting. The two main types are hemophilia A caused by a factor VIII deficiency and hemophilia B caused by a factor IX deficiency. Symptoms include excessive bleeding, easy bruising, and bleeding into joints. It is usually passed from mother to son and is treated through replacement of the deficient clotting factor. Nursing care focuses on prevention of injury, control of bleeding episodes, and prevention of joint damage.
Hemophilia
Hemophilia is an X-linked recessive bleeding disorder caused by a deficiency of coagulation factor VIII (Hemophilia A) or factor IX (Hemophilia B). It results in bleeding into joints, muscles, and other tissues. Repeated bleeding into joints (hemarthrosis) can lead to hemophilic arthropathy, characterized by synovial proliferation and cartilage/bone destruction. Joints most commonly affected include the knees, elbows, ankles, and hips. Diagnosis is based on coagulation factor testing and imaging may show joint effusion, osteopenia, and erosions. Treatment involves replacement of the missing coagulation factor through medications or transfusions.
Hemophilia,Clinical Presentation, Types,molecular Basis And Inheritance,overv...
Hemophilia,Clinical Presentation, Types,molecular Basis And Inheritance,overv...imam univarsity , college of medicine .
1-Overview of clotting mechanisms.
2-different lab investigation for bleeding disorder.
3-hemophilia, clinical presentation and its types.
4-Molecular basis and inheritance of hemophilia.
5-mechanisims of family and patient pedigree.Hemophilia
a powerpoint on hemophilia i needed to make.
**if you want to join an online class if you are interested in history, science, math, english, and other things, join my class!!**
Hereditary spherocytosis
This document discusses hereditary spherocytosis (HS), an inherited disorder caused by defects in the red blood cell membrane skeleton. HS is characterized by spherical red blood cells that are less deformable and vulnerable to splenic sequestration and destruction. The defects are primarily in proteins like ankyrin, band 3, spectrin or band 4.2 that make up the membrane skeleton. This leads to a reduced red blood cell life span of 10-20 days instead of the normal 120 days. Clinical features include anemia, splenomegaly, jaundice, and hemolytic crises from infections. Diagnosis involves tests like peripheral smear, bone marrow examination, and osmotic fragility testing. Treatment
CME: Bleeding Disorders - Clinical Features
The document summarizes various bleeding disorders including their clinical features and classifications. Platelet disorders can cause petechiae and purpurae due to decreased platelet production, increased destruction, or sequestration. Clotting factor deficiencies like hemophilia A and B are inherited and cause hemarthroses, hematomas, and bleeding after trauma. Von Willebrand disease is the most common inherited bleeding disorder caused by a defect in von Willebrand factor.
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Hemophilia,Clinical Presentation, Types,molecular Basis And Inheritance,overv...
Hemophilia,Clinical Presentation, Types,molecular Basis And Inheritance,overv...
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Hemophilia
Hemophilia A is an inherited blood disorder where the blood does not clot normally due to a lack of clotting factor VIII. Symptoms include spontaneous bleeding, bruising, joint pain and swelling, and internal bleeding. The disease is passed down from mothers to sons on the X chromosome. Treatment involves replacing the missing clotting factor through intravenous injections or nasal spray medication. There is no cure for hemophilia, but genetic counseling can help determine risk for children.
Hemophilia
Hemophilia is a genetic disorder that impairs the body's ability to control blood clotting. It is caused by mutations in genes that code for proteins essential for blood clotting. The two main types are hemophilia A, caused by a factor VIII deficiency, and hemophilia B, caused by a factor IX deficiency. Hemophilia is diagnosed through family history, blood tests, and bleeding symptoms that can range from mild bruising to heavy internal bleeding. Treatment focuses on replacing the missing clotting factor through infusions or drugs like desmopressin. Hemophilia affects about 1 in 5,000 male births.
Hemophilia
I apologize, I do not see any faces in the provided text. The document appears to be about hemophilia, a genetic bleeding disorder. It discusses causes, classifications by severity, management strategies, and dental considerations for treating patients with hemophilia. However, there are no images included that I could identify faces in.
Haemophilia
1) Dental care for patients with bleeding disorders has improved with new materials, hemostatic agents, preventative techniques, and minimally invasive procedures.
2) There are several types of bleeding disorders including hemophilia A/B and von Willebrand disease. Management strategies depend on the specific disorder and may include factor replacement therapy, desmopressin, antifibrinolytic drugs, or local hemostatic measures.
3) Dental procedures carry varying risks for patients with bleeding disorders depending on the need for local anesthesia or other invasive techniques. Proper treatment planning and hemostatic protocols are necessary to safely provide dental care.
Haemophilia
Hemophilia is a genetic disorder that impairs the body's ability to control blood clotting. It is caused by a defect in the genes that determine how the body produces clotting factor VIII or IX, which are located on the X chromosome. The main treatment for hemophilia is replacement therapy through slow infusions of concentrated clotting factor VIII or IX to replace the missing or low factors. Other treatments include antifibrinolytic medicines to prevent blood clots from breaking down and desmopressin, a man-made hormone that stimulates the release of stored factor VIII.
Hemophilia
Hemophilia A and B are X-linked bleeding disorders caused by deficiencies of coagulation factors VIII and IX respectively. Hemophilia A is more common, affecting about 1 in 5,000-10,000 live male births. The disorders are inherited but only affect males, with female carriers able to pass the gene to their sons or daughters. Common clinical manifestations include hemarthrosis, hematomas, and intracranial bleeding. Treatment involves replacement of the missing coagulation factor, initially through plasma-derived or recombinant products, with the goal of preventing bleeds or treating acute bleeds.
Hemophilia
Hemophilia is a bleeding disorder caused by deficiencies in clotting factors VIII (hemophilia A) or IX (hemophilia B). The key manifestations are hemarthrosis, hematomas, and intracranial bleeding. It is inherited in an X-linked recessive pattern and treatment involves replacing the missing clotting factor through plasma-derived or recombinant sources. While gene therapy holds promise for a potential cure, current treatment focuses on factor replacement to prevent or treat bleeding episodes.
Hemophilia
Hemophilia is a group of inherited bleeding disorders caused by deficiencies in clotting factors, leading to impaired blood clotting. There are several types of hemophilia including Hemophilia A, Hemophilia B, and von Willebrand's disease. Symptoms include bleeding into joints, easy bruising, and prolonged bleeding from minor injuries. Treatment involves replacing the deficient clotting factor through products like fresh frozen plasma or specific clotting factor concentrates. Nursing care focuses on preventing and treating bleeding episodes, avoiding risk factors, managing pain, and providing patient education.
Hemophila pp
Hemophilia is a genetic bleeding disorder caused by mutations on the F8 gene located on the X chromosome. People with hemophilia experience prolonged bleeding from minor injuries due to a lack of clotting factor VIII or IX in their blood. Treatment involves replacement therapy through frequent injections of clotting factor concentrates. While treatment allows people with hemophilia to live normal lives, risks include developing antibodies against the clotting factor and bleeding complications. Researchers are studying gene therapy as a potential cure by correcting the defective genes that cause hemophilia.
Hemophilia
Haemophilia is a rare inherited blood disorder where an essential blood clotting factor is missing or reduced, meaning those affected have difficulty forming blood clots and are prone to excessive bleeding. It occurs in about 1 in 10,000 males and is passed from parent to child. The severity can range from mild to severe depending on the level of the missing clotting factor. While there is no cure, treatment involves replacing the missing clotting factor through injections. Researchers are working on developing gene therapies as a potential long-term treatment.
Chronic tonsillitis
Chronic tonsillitis has several causes including complications from acute sinusitis or subclinical infections of the tonsils or sinuses. It most commonly affects children and young adults. There are three main types: chronic follicular tonsillitis where the tonsillar crypts are full of infected material; chronic parenchymatous tonsillitis with enlarged lymphoid tissue; and chronic fibroid tonsillitis where the tonsils are small but infected. Clinical features include recurrent sore throats, throat irritation, bad breath, and difficulty swallowing. Examination may show enlarged or small tonsils with pus or debris. Complications can include peritonsillar abscess, tonsilloliths, or intratonsillar
Hemophilia treatment
Over the last few decades, treatment for hemophilia has advanced significantly. Previously, many patients died from childhood injuries or surgeries due to a lack of effective treatment options. A major breakthrough occurred when scientists could identify and replace coagulation factor deficiencies linked to hemophilia using products derived from human blood. While this helped control bleeding episodes, levels were not high enough to be truly effective. Today, treatment mainly involves replacing clotting factors on demand for mild cases or preventatively for moderate to severe cases to avoid complications, using both plasma-derived and recombinant concentrates.
Acquired hemophilia a nonhematologist perspective
Acquired hemophilia is a rare disorder and if missed can cost lives. This presentation has been prepared keeping in view the non hematologist health care workers to broaden their index of suspicion and increase their awareness. The target people are medical residents those who work in ER and ICUs.
Acquired Haemophilia
- A 55-year-old male presented with soft tissue bleeding and a prolonged activated partial thromboplastin time. He was diagnosed with acquired hemophilia caused by autoantibodies against factor VIII.
- Acquired hemophilia is a rare but serious condition typically treated initially with prednisolone and possibly cyclophosphamide. However, up to a third of patients may be refractory to this first-line treatment.
- Rituximab, a monoclonal antibody against CD20, shows promising evidence as an alternative treatment with similar remission rates to standard therapy and possible additional benefits, but randomized studies are still needed.
Haemophilia
Haemophilia is a rare genetic bleeding disorder caused by mutations affecting Factor VIII or Factor IX. There are two main types, Haemophilia A which affects Factor VIII and is more common, and Haemophilia B which affects Factor IX. Symptoms range from mild to severe bleeding episodes based on level of the deficient clotting factor. Treatment involves replacing the missing clotting factor, though some develop inhibitors requiring alternative treatments. Those with severe haemophilia are at risk of joint damage from recurrent bleeding and require prophylactic infusions to prevent this.
Haemophilia: Royal disease
Hemophilia is a genetic bleeding disorder caused by a deficiency in clotting factors, most commonly factor VIII. It is inherited through the X chromosome, so it primarily affects males. Symptoms include prolonged bleeding after injury or surgery and bleeding into joints or muscles. Treatment involves replacing the missing clotting factor through infusions of factor concentrates. Management also focuses on preventing injuries and joint damage through exercise and lifestyle changes. Researchers are studying gene therapy as a potential future treatment.
Haemophilia & orthopaedics
This document discusses haemophilia and orthopaedics. It begins by defining haemophilia A and B, their prevalence, and clinical manifestations related to factor VIII and IX levels. It then discusses orthopaedic complications like hemarthrosis, arthropathy, fractures, pseudotumors, and their management. It provides guidance on anaesthesia, surgery, arthroplasty, and post-operative care in haemophiliacs, emphasizing the need for factor replacement or prophylaxis to prevent bleeding. Infection risk is higher in haemophiliacs, especially those with concomitant HIV. Overall, continuous prophylaxis can slow complications, but orthopaedic issues still arise requiring multidisciplinary management under hematological control.
Haemolytic anaemia
This document defines and classifies haemolytic anaemia. It describes acquired haemolytic anaemia, which can be immune or non-immune. Immune haemolytic anaemia is further divided into autoimmune, alloimmune, and drug-induced types. Warm and cold autoimmune haemolytic anaemias are explained in detail, including their causes, clinical features, laboratory findings, and treatments. Other types of non-immune haemolytic anaemias such as paroxysmal nocturnal haemoglobinuria, red cell fragmentation syndromes, and traumatic cardiac haemolytic anaemia are also summarized.
Blood clotting
Indian Dental Academy: will be one of the most relevant and exciting training center with best faculty and flexible training programs for dental professionals who wish to advance in their dental practice,Offers certified courses in Dental implants,Orthodontics,Endodontics,Cosmetic Dentistry, Prosthetic Dentistry, Periodontics and General Dentistry.
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Acute tonsillitis is usually caused by streptococcal bacteria or viruses like adenovirus. Common symptoms include sore throat, fever, and pain when swallowing. On examination, the tonsils are red and swollen with pus or debris in the crypts and enlarged lymph nodes. Treatment involves rest, fluids, antibiotics if bacterial, and surgery for complications like abscesses or recurrent infections. Chronic tonsillitis is caused by repeated acute infections and leads to tonsil enlargement, scarring, and sore throat. Tonsillectomy may be recommended for recurring infections, obstructive symptoms, or focal infection.
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Inherited disorders of coagulation
Inherited disorders of coagulation can cause excessive bleeding due to defects in coagulation proteins. The most common is hemophilia A, which is caused by a deficiency in clotting factor VIII due to its location on the X chromosome. Symptoms range from severe spontaneous bleeding to mild symptoms depending on factor VIII levels. Hemophilia B is less common but similar, involving a factor IX deficiency. Von Willebrand disease results from mutations of the von Willebrand factor gene and causes bleeding from mucous membranes or following trauma due to defective platelet function and reduced clotting factor VIII transport. Rarer deficiencies involve factors II, V, VII, X, XI, and XIII.
Platelet bleeding
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Coagulation disorders Pathology. Dr. Umme HAbiba
Key coagulation disorders covered in this document include hemophilia A caused by a factor VIII deficiency, hemophilia B from a factor IX deficiency, and von Willebrand disease where von Willebrand factor is defective
Hemophilia.thrombocytopenic purpura
This document discusses bleeding disorders, including disorders of platelets and clotting factors. It describes hemophilia, which is a rare bleeding disorder caused by a defect in clotting factors. There are various types of hemophilia depending on the specific clotting factor deficiency. The document outlines the classification, clinical manifestations, diagnosis, treatment, and complications of bleeding disorders.
07 C.disorders.pptx
The document discusses various coagulation disorders including:
1. Congenital coagulation disorders such as hemophilia A and B which are caused by deficiencies in coagulation factors VIII and IX.
2. Acquired coagulation disorders including disseminated intravascular coagulation (DIC), vitamin K deficiency, liver disease, and antibodies against coagulation factors.
3. The pathogenesis, clinical features, laboratory findings, and treatment of various coagulation disorders are explained.
Factor v deficiency
Factor v deficiency is rare
first described in a Norwegian patient in 1943, Identified by Dr. Paul Owren .
Fewer than 200 cases of congenital factor V deficiency have been reported worldwide since 1943.
inheritance of factor V deficiency is autosomal recessive.
usually only needed for severe bleeds or before surgery.
there is no concentrate containing only factor V.
fresh plasma or (FFP) infusions are used to correct the deficiency temporarily and should be given daily during a bleeding episode.
7b..bleeding disorder
This document discusses various bleeding disorders including definitions, etiologies, and clinical features. It covers vessel wall abnormalities like hereditary hemorrhagic telangiectasia and Ehlers Danlos disease. Platelet disorders discussed include quantitative issues like thrombocytopenia and qualitative issues such as Bernard Soulier syndrome. Coagulation disorders covered include hemophilia A, hemophilia B, and acquired disorders like disseminated intravascular coagulation and liver disease. Specific conditions like idiopathic thrombocytopenic purpura, thrombotic thrombocytopenic purpura, and von Willebrand disease are explained in detail.
coagulation disorder.pptx
This document discusses various coagulation disorders (coagulopathies) including primary and secondary hemostasis disorders as well as inherited and acquired coagulation disorders. Specific coagulation factor deficiencies are described such as hemophilia A, hemophilia B, von Willebrand disease, and factors VII, IX, and XI deficiencies. Treatment considerations for dental procedures in these disorders and coagulopathies induced by medications like heparin and warfarin are also summarized.
haemophilia-170526085552 (1).pdf
Hemophilia is a hereditary bleeding disorder caused by deficient or defective clotting factors, mainly factor VIII (hemophilia A) and factor IX (hemophilia B). It is transmitted through females to males via an X-linked recessive pattern. Symptoms include prolonged bleeding after injury and spontaneous bleeding in joints/muscles. Diagnosis involves measuring clotting factor levels. Management focuses on preventing bleeding episodes through factor replacement therapy, gene therapy, desmopressin, and other treatments like cryoprecipitate and fibrin glue. Hemophilia was first documented in the 2nd century AD and is known as the "royal disease" due to its prevalence among European royalty.
Hemophilia
Hemophilia is a rare bleeding disorder caused by inherited deficiencies in coagulation factors. The most common types are hemophilia A caused by factor VIII deficiency and hemophilia B caused by factor IX deficiency. Symptoms include easy bruising, bleeding into joints and muscles, and life-threatening bleeding in closed spaces or from trauma. Treatment involves replacement of the missing clotting factor through medications like desmopressin for mild cases or clotting factor concentrates for more severe bleeding. The genetics of hemophilia are X-linked and carriers can have mild bleeding tendencies due to lyonization.
HEMOPHILIA.pptx
Hemophilia is a bleeding disorder caused by deficiencies in clotting factors VIII or IX. It can range from mild to severe depending on factor levels. The knees, elbows, and ankles are most prone to recurrent bleeding in joints (hemarthrosis) leading to hemophilic arthropathy. Treatment involves replacing the missing clotting factor, though some develop inhibitors requiring bypassing agents. For mild cases, desmopressin can stimulate factor release instead of replacement. Surgery and radiation synovectomy may help joints with persistent bleeding. Von Willebrand disease also involves a platelet dysfunction protein.
Vascular Emergencies
This document discusses vascular emergencies and trauma, including acute limb ischemia caused by embolism or thrombosis, vascular trauma to the head and neck, cervical veins, subclavian artery, and blunt aortic injury. It also covers abdominal vascular trauma and extremity vascular injuries. Key points include the importance of history and physical exam findings in diagnosis, the need for immediate anticoagulation or surgery depending on the situation, and computed tomography playing a role in identifying injuries from blunt trauma.
Hemophilia a
Hemophilia A is the most common form of hemophilia, caused by reduced levels or activity of coagulation factor VIII. This leads to prolonged and unstable clot formation when bleeding occurs. Symptoms can range from bleeding after circumcision or venipuncture in infants to spontaneous bleeding in joints in older patients. Diagnosis involves tests that show prolonged activated partial thromboplastin time and low factor VIII levels. Treatment replaces the missing clotting factor, with severity and location of bleeding determining dosage. Preventative treatment and education on self-administered factor replacement can help manage symptoms.
bleeding disorders4th 1.ppt
This document provides an overview of haemophilia and related bleeding disorders. It defines haemophilia as inherited blood disorders caused by a deficiency in specific clotting factors, either factor VIII (haemophilia A) or factor IX (haemophilia B). The severity of haemophilia depends on the level of deficient clotting factor, ranging from mild to severe. Treatment has advanced from no treatment to current use of recombinant clotting factors. Related disorders discussed include von Willebrand disease and platelet function defects.
hemophilia-090722123053-phpapp02.pptx
Hemophilia is a genetic disorder that impairs the body's ability to control blood clotting. It is passed down from mothers to their sons and manifests mostly in males. There are three main types - Hemophilia A involves a lack of clotting Factor VIII, Hemophilia B involves Factor IX, and Hemophilia C involves Factor XI. The severity is determined by the level of the deficient clotting factor, with severe cases having less than 1% of normal levels. Treatment involves replacing the deficient clotting factor through commercially prepared concentrates or therapies like desmopressin acetate to stimulate endogenous release. Dental procedures in hemophiliacs require careful management to prevent bleeding through measures
Hemophilia
Haemophilia is a rare inherited bleeding disorder caused by deficiencies in clotting factors VIII (hemophilia A) or IX (hemophilia B). The document discusses the history, types, signs and symptoms, inheritance, and treatment of hemophilia. It was first described in 1803 and is often called the "disease of kings" because Queen Victoria was a carrier who passed it on to descendants across Europe. Hemophilia A is the most common type and is treated with clotting factor replacement therapy or desmopressin.
Vascular emergencies
Vascular emergencies such as acute limb ischemia and deep vein thrombosis (DVT) can be life-threatening and require prompt diagnosis and treatment. Acute limb ischemia presents with sudden onset of pain, pallor, pulselessness, and paresthesia due to an arterial embolism, thrombosis, or trauma. Physical exam shows absent pulses below the blockage. Treatment involves heparin, thrombolysis, or urgent bypass surgery. DVT risk factors include surgery, trauma, cancer, and immobilization. Presentation includes limb swelling and pain. Ultrasound can confirm the diagnosis. Treatment is anticoagulation to prevent pulmonary embolism complications. Necrotic diabetic foot infections and compartment syndrome are also
PUBERTY MENORRHAGIA & BLEEDING DISORDERS Made Easy Dr Sharda Jain
This document discusses evaluation and treatment of puberty menorrhagia and bleeding disorders. It begins with classifications of abnormal uterine bleeding and an overview of common causes of puberty menorrhagia such as dysfunctional uterine bleeding and bleeding disorders. Evaluation involves a detailed history, physical exam, ultrasound, and lab tests to rule out other causes before screening for bleeding disorders. Common bleeding disorders seen in puberty menorrhagia are von Willebrand disease, platelet function defects, and coagulation factor deficiencies. Treatment depends on the underlying cause but may include combined oral contraceptives, antifibrinolytic agents, plasma concentrates, and managing anemia.
Rv copy
This document discusses the syndrome of right ventricular infarction. Some key points:
- RV infarction commonly occurs with inferior MI involving the inferior wall of the LV. It can complicate 30-50% of inferior MIs.
- Diagnosis is important as RV infarction requires distinct management from LV infarction. Signs include hypotension, elevated JVP, clear lung fields on exam. EKG often shows ST elevation in right-sided leads.
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Bleeding disorder.pptx
This document discusses various bleeding disorders including hemophilia, von Willebrand disease, and acquired bleeding disorders. It defines hemophilia as a rare genetic bleeding disorder caused by a deficiency in clotting factors such as VIII or IX. Von Willebrand disease is described as the most common inherited bleeding disorder caused by a defect in the von Willebrand factor. The document also outlines different types of acquired bleeding disorders and their causes, including deficiencies in clotting factors due to conditions like liver disease, vitamin K deficiency, or effects of anticoagulant drugs.
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PUBERTY MENORRHAGIA & BLEEDING DISORDERS Made Easy Dr Sharda Jain
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There are 4 phases of wound healing: hemostasis, inflammation, proliferation, and remodeling. This document also describes the mechanism of wound healing. Factors that affect healing include infection, uncontrolled diabetes, poor nutrition, age, anemia, the presence of foreign bodies, etc.
Complications of wound healing like infection, hyperpigmentation of scar, contractures, and keloid formation.
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- 3. Haemophilia AHaemophilia A Inherited bleeding disorder.Inherited bleeding disorder. X linked recessive trait.X linked recessive trait. Males and Homozygous females.Males and Homozygous females. Bleeding is inversely correlated withBleeding is inversely correlated with residual factor VIII deficiency.residual factor VIII deficiency.
- 5. Clinical SeverityClinical Severity <2 U/dl<2 U/dl 2 – 10 U/dl2 – 10 U/dl >10- 30 U/dl>10- 30 U/dl Severe: FrequenySevere: Frequeny spontaneous bleedingspontaneous bleeding Moderately severe:Moderately severe: Some spontaneousSome spontaneous bleeds, bleeding afterbleeds, bleeding after minor trauma.minor trauma. Mild: bleeding afterMild: bleeding after surgery or traumasurgery or trauma
- 6. PathophysiologyPathophysiology Lack of factor VIII as aLack of factor VIII as a cofactor drastically slowscofactor drastically slows the the rate of generation ofthe the rate of generation of factor Xa.factor Xa.
- 7. PathophysiologyPathophysiology Extrinsic pathway produces a limited initialExtrinsic pathway produces a limited initial burst of thrombin activation.burst of thrombin activation. This is reinforced and amplified by aThis is reinforced and amplified by a feedback loop whereby thrombin activatesfeedback loop whereby thrombin activates factors XI and IX of the intrinsic pathway.factors XI and IX of the intrinsic pathway. High levels of thrombin are required toHigh levels of thrombin are required to activate TAFI that augments fibrinactivate TAFI that augments fibrin depositiondeposition
- 8. CLINICAL PRESENTATIONCLINICAL PRESENTATION Cephalohaematoma.Cephalohaematoma. Prolonged cord bleed.Prolonged cord bleed. Prolonged bleeding after circumcision.Prolonged bleeding after circumcision. Large bruisesLarge bruises Bleeding after minor traumaBleeding after minor trauma Joint bleedsJoint bleeds Joint deformitiesJoint deformities
- 13. Laboratory DiagnosisLaboratory Diagnosis Bleeding time: NormalBleeding time: Normal Coagulation Profile:Coagulation Profile: PT – NormalPT – Normal APTT – ProlongedAPTT – Prolonged Mixing Studies with normal, aged andMixing Studies with normal, aged and adsorbed plasmaadsorbed plasma Factor AssayFactor Assay