Thalassemia Avik
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22september 2011, GLT medical College Kolkata88, India..............under Pathology Dept!!!!!!!!1Dr.S.K.Mandal.........chief speakers aVIK bASU, Chirantan Mnadal, Urmimala Bhattacharya, Soumaditya Banerjee!!!!!!!!!
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Thalassemia is caused by impaired globin gene production, which can result in decreased or absent alpha or beta globin chains. This leads to various forms of thalassemia depending on which chain is affected and how severe the deficiency is. Alpha thalassemia traits typically do not require treatment, while more severe forms can cause anemia. Beta thalassemia major requires lifelong red blood cell transfusions and iron chelation therapy.
Rbc disorders-5
Thalassemia syndromes are quantitative defects in globin chain synthesis where heme synthesis is normal. The main types are alpha and beta thalassemia. Alpha thalassemia involves reduced alpha globin chain synthesis leading to excess non-alpha chains forming abnormal hemoglobins like HbH and Hb Barts. Beta thalassemia involves reduced beta chain synthesis. This causes imbalanced globin chain production and hemolysis. The severity depends on the number of affected globin genes and can range from thalassemia minor to major. Thalassemia major requires lifelong blood transfusions.
Thalassemia major minor & other subtypes Soumaditya
22september 2011, GLT medical College Kolkata88, India..............under Pathology Dept!!!!!!!!1Dr.S.K.Mandal.........chief speakers aVIK bASU, Chirantan Mnadal, Urmimala Bhattacharya, Soumaditya Banerjee!!!!!!!!!
Thalassemia syndromes mskcc 4 9-15
This document provides an overview of thalassemia syndromes. It defines thalassemia as a heterogeneous group of quantitative globin chain defects that result in inherited anemia. It describes the different types of thalassemia including β-thalassemia major, β-thalassemia intermedia, α-thalassemias, and other subtypes. It discusses the clinical manifestations, genetic basis, diagnosis, and principles of treatment for the different thalassemia syndromes.
Thalassemia
The document discusses thalassemia, a group of inherited blood disorders characterized by reduced or absent globin chains. It covers the basics of alpha and beta thalassemia including genetic basis, classification, clinical outcomes, complications, and management approaches like transfusions, chelation therapy, splenectomy, and immunizations. Key points include the varying severity of alpha and beta thalassemia syndromes depending on which globin chains are affected, the risk of iron overload and related organ damage without proper chelation therapy, and the goal of splenectomy to reduce transfusion needs in severe cases.
Thalassemia
Thalassemia is a group of inherited blood disorders caused by reduced or absent globin chains. There are two main types - alpha and beta thalassemia. Alpha thalassemia results from reduced alpha globin production while beta thalassemia results from reduced beta globin production. Thalassemia is characterized by ineffective red blood cell production and increased red blood cell breakdown leading to anemia. Common complications include iron overload, bone and organ damage, and endocrine abnormalities. Treatment involves regular blood transfusions along with iron chelation therapy.
Thalassemia
This document provides information on diagnosing and managing thalassemia and hemoglobin E disease. It discusses diagnostic testing including hemoglobin electrophoresis and blood counts. It describes the clinical features and management of different genotypes of alpha and beta thalassemia including transfusion regimens, iron chelation, complications, and new treatment approaches.
Thalassemia Case Presentation
Get here,
1. WHAT IS THALASSEMIA?
2. Molecular Basis of Thalassemia.
3. Types of Thalassemia.
4. - Thalassemia.
5.Types of - Thalassemia.
6. 휷- Thalassemia.
7. Types of 휷- Thalassemia.
8. Thalassemia Syndrome.
9.Treatment
Recommended
medicaldump.com
Thalassemia is caused by impaired globin gene production, which can result in decreased or absent alpha or beta globin chains. This leads to various forms of thalassemia depending on which chain is affected and how severe the deficiency is. Alpha thalassemia traits typically do not require treatment, while more severe forms can cause anemia. Beta thalassemia major requires lifelong red blood cell transfusions and iron chelation therapy.
Rbc disorders-5
Thalassemia syndromes are quantitative defects in globin chain synthesis where heme synthesis is normal. The main types are alpha and beta thalassemia. Alpha thalassemia involves reduced alpha globin chain synthesis leading to excess non-alpha chains forming abnormal hemoglobins like HbH and Hb Barts. Beta thalassemia involves reduced beta chain synthesis. This causes imbalanced globin chain production and hemolysis. The severity depends on the number of affected globin genes and can range from thalassemia minor to major. Thalassemia major requires lifelong blood transfusions.
Thalassemia major minor & other subtypes Soumaditya
22september 2011, GLT medical College Kolkata88, India..............under Pathology Dept!!!!!!!!1Dr.S.K.Mandal.........chief speakers aVIK bASU, Chirantan Mnadal, Urmimala Bhattacharya, Soumaditya Banerjee!!!!!!!!!
Thalassemia syndromes mskcc 4 9-15
This document provides an overview of thalassemia syndromes. It defines thalassemia as a heterogeneous group of quantitative globin chain defects that result in inherited anemia. It describes the different types of thalassemia including β-thalassemia major, β-thalassemia intermedia, α-thalassemias, and other subtypes. It discusses the clinical manifestations, genetic basis, diagnosis, and principles of treatment for the different thalassemia syndromes.
Thalassemia
The document discusses thalassemia, a group of inherited blood disorders characterized by reduced or absent globin chains. It covers the basics of alpha and beta thalassemia including genetic basis, classification, clinical outcomes, complications, and management approaches like transfusions, chelation therapy, splenectomy, and immunizations. Key points include the varying severity of alpha and beta thalassemia syndromes depending on which globin chains are affected, the risk of iron overload and related organ damage without proper chelation therapy, and the goal of splenectomy to reduce transfusion needs in severe cases.
Thalassemia
Thalassemia is a group of inherited blood disorders caused by reduced or absent globin chains. There are two main types - alpha and beta thalassemia. Alpha thalassemia results from reduced alpha globin production while beta thalassemia results from reduced beta globin production. Thalassemia is characterized by ineffective red blood cell production and increased red blood cell breakdown leading to anemia. Common complications include iron overload, bone and organ damage, and endocrine abnormalities. Treatment involves regular blood transfusions along with iron chelation therapy.
Thalassemia
This document provides information on diagnosing and managing thalassemia and hemoglobin E disease. It discusses diagnostic testing including hemoglobin electrophoresis and blood counts. It describes the clinical features and management of different genotypes of alpha and beta thalassemia including transfusion regimens, iron chelation, complications, and new treatment approaches.
Thalassemia Case Presentation
Get here,
1. WHAT IS THALASSEMIA?
2. Molecular Basis of Thalassemia.
3. Types of Thalassemia.
4. - Thalassemia.
5.Types of - Thalassemia.
6. 휷- Thalassemia.
7. Types of 휷- Thalassemia.
8. Thalassemia Syndrome.
9.Treatment
Thalassemia and it's types
Thalassemia is a hereditary hemolytic disorder caused by reduced or absent synthesis of the α- or β-globin chains that make up hemoglobin. There are two main types: α-thalassemia results from mutations in the α-globin genes and is characterized by levels ranging from silent carrier to hydrops fetalis. β-thalassemia involves mutations in the β-globin gene and includes β-thalassemia major, intermediate, and minor depending on severity of anemia presentation. β-thalassemia major manifests in the first years of life and requires regular blood transfusions without treatment.
Thalasemia
The document discusses thalassemias, which are inherited autosomal recessive blood disorders caused by genetic defects that result in reduced synthesis of one of the globin chains. This causes anemia. It describes the prevalence of different types of thalassemias in various regions. It specifically discusses alpha and beta thalassemias, their genetic causes and effects, inheritance patterns, and treatment options such as blood transfusions, iron chelation therapy, and bone marrow transplantation.
Thalassemia
This document discusses thalassemia, specifically alpha and beta thalassemia. It describes the genetics, pathophysiology, clinical presentations, and laboratory diagnosis of the different types. The main points are:
1) Thalassemia results from inherited abnormalities in globin chain production, causing excess unpaired chains. Alpha thalassemia affects alpha chain production, while beta thalassemia affects beta chain production.
2) There are different clinical syndromes for each type depending on the severity of the genetic mutation, ranging from silent carriers to severe anemia requiring transfusions.
3) Laboratory testing helps diagnose and classify the specific type of thalassemia based on hemoglobin electrophoresis
Short Review of Thalassemias
This document provides information on thalassemia, a group of genetic disorders that result in reduced hemoglobin production and anemia. It discusses the different types of thalassemia including alpha and beta thalassemia. Alpha thalassemia is caused by genetic deletions of the alpha globin genes and has varying severity from silent carrier to Hemoglobin H Disease to Bart's Hydrops Fetalis Syndrome. Beta thalassemia results from mutations in the beta globin genes and includes forms ranging from silent carrier to beta thalassemia minor to intermedia to major. Laboratory tests outlined can help diagnose and differentiate types of thalassemia based on red blood cell morphology, hemoglobin analysis and iron studies.
Thalassemia
This document provides information on thalassemia. It describes thalassemia as an autosomal dominant disorder caused by mutations that decrease the synthesis of the alpha and beta globin chains. There are two main types: alpha thalassemia and beta thalassemia. Beta thalassemia is further classified as B thalassemia zero, beta plus, beta thalassemia minor and beta thalassemia major depending on the severity of the reduction in beta globin synthesis. Common causes of beta thalassemia include mutations that affect RNA splicing, transcription of the beta globin promoter, or the beta globin coding region. Clinical features of thalassemia include anemia, skeletal abnormalities,
anemia and thalassemia genetic bases ,the molecular defects and pathophysiol...
anemia and thalassemia genetic bases ,the molecular defects and pathophysiol...imam univarsity , college of medicine .
1• Define anemia and it's genetic bases.2• Describe thalassemia and it's genetic bases.3• What is the molecular defects and pathophysiology of thalassemia 4• Describe the diagnostic test that detect genetic mutation of thalassemia 5• Overview of pre-marital screening test.Thalesemi.ppt
Thalassemia is an inherited blood disorder caused by a genetic defect that results in reduced or absent amounts of hemoglobin. There are two main types: alpha thalassemia affects alpha globin protein production, while beta thalassemia affects beta globin protein production. Symptoms include fatigue, weakness, jaundice, and growth failure in severe cases. Treatment depends on the type and severity, and may include regular blood transfusions, iron chelation therapy, folic acid supplements, and bone marrow transplants in severe cases.
Beta Thalassemia najmaldin saki
This document summarizes beta thalassemia, a genetic blood disorder caused by a decreased production of the beta globin chain. It discusses the molecular defects that can cause beta thalassemia, resulting in reduced or unstable beta globin mRNA. It describes the clinical features of beta thalassemia major, also known as Cooley's anemia, which is characterized by severe anemia and other complications if not treated with regular blood transfusions. It provides information on some common lab findings in beta thalassemia and differences in hemoglobin levels between different types.
Thalassemia
• Thalassemia
• Hemoglobinopathies
• Incidence of thalassemia in Thailand
• Mode of inheritance
• How to name thalassemia ?
• Common types of thalassemia
• Alpha Thalassemia
• Symbolism Alpha Thalassemia
• Classification & Terminology Alpha Thalassemia
• Types of a-thalassemia
• Compound heterozygotes
• Comparison of α Thalassemias
• Beta thalassemias (β thalassemias)
• Types of β Thalassemia
• β Thalassemia Symptoms Include
• Diagnosis of Beta Thalassemia
• Prevention
• What Is The Treatment For Thalassemia
Overview of thalassemia 2
- Thalassemia is a genetic blood disorder caused by mutations in hemoglobin genes. It results in decreased or absent globin chains and abnormal hemoglobins.
- There are two main types - alpha and beta thalassemia. Beta thalassemia major requires lifelong blood transfusions and causes iron overload.
- India has a high burden of thalassemia with over 10,000 children born with thalassemia major each year. Carrier rates vary regionally from 1-15% in different parts of India.
- Management involves blood transfusions to prevent complications from anemia. Iron chelation therapy is also required to manage iron overload from frequent transfusions. Bone marrow
Thalassemia
Thalassemia Dr.Ahmad Qassm :What is thalassemia ,INTRODUCTION of thalassemia,Types,Signs & Symptoms of thalassemia ,Diagnosis of thalassemia ,Treatment and Food Treatment of thalassemia ,Iron chelation therapy of thalassemia ,Bone Marrow & Stem Cell Transplant of thalassemia ,Possible Future Treatments of Thalassemia
Thallessemia
The patient has beta-thalassemia based on his anemia, hepatosplenomegaly, and small size. Beta-thalassemia is a hereditary blood disorder caused by a defect in the gene responsible for producing the beta chain of hemoglobin. This leads to reduced hemoglobin and anemia. The document discusses the molecular basis, clinical features, epidemiology, and radiographic manifestations of beta-thalassemia.
Genetics of Thalassemia
This patient is married to a man from Saudi Arabia whose family members require regular blood transfusions. She is concerned about the risk of genetic disorders causing anemia in her potential children. The document discusses thalassemia, a genetic blood disorder caused by defects in hemoglobin production. It explains the genetics and inheritance of alpha and beta thalassemia. The advisor would recommend confirming the blood conditions of the parents, performing lab work and genetic testing, and providing genetic counseling to help the couple understand the risks and make informed reproductive decisions.
Thalassemia
Thalassemia is a blood disorder passed down through families (inherited) in which the body makes an abnormal form or inadequate amount of hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen. The disorder results in large numbers of red blood cells being destroyed, which leads to anemia.
Thalassemia alpha and beta
Thalassemia is a genetic blood disorder caused by mutations in the genes that control globin production. There are two main types - alpha thalassemia affects alpha globin genes, while beta thalassemia affects beta globin genes. Thalassemia severity depends on the number of affected genes, ranging from no symptoms to severe anemia requiring chronic blood transfusions. The thalassemia gene is maintained in populations where malaria is common due to heterozygote resistance to the disease.
thalassemia
Thalassemia is a blood disorder caused by variants or missing genes that affect hemoglobin production. There are two main types: alpha thalassemia affects alpha globin gene expression, while beta thalassemia is caused by a deficiency in beta globin production. People with beta thalassemia experience anemia and other health issues due to the lack of functional hemoglobin in red blood cells. Treatment involves regular blood transfusions combined with iron chelation therapy or bone marrow transplants in severe cases.
Thalassemia
Thalassemia, alpha and beta, major and minor thalassemia, complications, diagnosis and treatment of thalassemia.
Non transfusion dependent thalassemias beta-thalassemia intermedia and hb e b...
Non transfusion dependent thalassemias beta-thalassemia intermedia and hb e b...Thalassaemia International Federation
Careful monitoring during pregnancy
- Blood transfusions if Hb<9gm/dl
- Iron chelation if serum ferritin >1000mcg/L
- Splenectomy if spleen size >3cm/year
- Monitor fetal growth by ultrasound
Pregnancy outcomes are improved with optimal care. 31
beta thalassemia intermedia
Complications:
- Iron overload
- Cardiac disease
- Leg ulcers
- Liver disease
- Extramedullary masses
- Bone abnormalities
- Pulmonary hypertension
Prevention and treatment requires a multidisciplinary
approach including blood transfusions, iron chelation
therapy, splenectomy, hydroxyureathalassemia
Inherited blood disorders like thalassemia are caused by abnormal hemoglobin production and are inherited from parents. There are two main types, alpha and beta thalassemia, which can range in severity depending on the specific genes affected. Signs and symptoms include iron overload, infection risk, bone deformities, enlarged spleen, slowed growth, and heart problems. Thalassemia is diagnosed through blood tests and DNA analysis and treated through blood transfusions, stem cell transplants, or gene/bone marrow therapies. Prevention efforts focus on genetic counseling and testing of families with a history of thalassemia.
Thalassemia
This document discusses thalassemia, an inherited blood disorder characterized by reduced or absent hemoglobin. There are two main types: alpha thalassemia affects hemoglobin production; beta thalassemia has four forms ranging from mild (trait) to severe (major). Symptoms include anemia, fatigue, bone changes. Treatment involves blood transfusions, iron chelation therapy, and potentially splenectomy or bone marrow transplant.
Dyserythropoietic anaemia
Congenital dyserythropoietic anemia (CDA) is a rare blood disorder characterized by ineffective red blood cell production resulting in anemia. There are four main types of CDA which are inherited in an autosomal recessive pattern. Patients with CDA require frequent blood transfusions and iron chelation therapy to remove excess iron from the body. Bone marrow transplant and gene therapy may cure CDA but carry risks. Recent gene therapy trials have shown promise in curing beta-thalassemia.
Polycythemia Vera
Polycythemia vera is a rare acquired myeloproliferative disorder characterized by an overproduction of red blood cells. It results from a mutation in the JAK2 signaling molecule in 95% of cases. Symptoms include headache, dizziness, and fatigue due to expanded blood volume. Laboratory findings show elevated hematocrit and low erythropoietin levels. Treatment involves regular phlebotomy to reduce red blood cell counts and medications to control thrombocytosis and itching.
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Thalassemia and it's types
Thalassemia is a hereditary hemolytic disorder caused by reduced or absent synthesis of the α- or β-globin chains that make up hemoglobin. There are two main types: α-thalassemia results from mutations in the α-globin genes and is characterized by levels ranging from silent carrier to hydrops fetalis. β-thalassemia involves mutations in the β-globin gene and includes β-thalassemia major, intermediate, and minor depending on severity of anemia presentation. β-thalassemia major manifests in the first years of life and requires regular blood transfusions without treatment.
Thalasemia
The document discusses thalassemias, which are inherited autosomal recessive blood disorders caused by genetic defects that result in reduced synthesis of one of the globin chains. This causes anemia. It describes the prevalence of different types of thalassemias in various regions. It specifically discusses alpha and beta thalassemias, their genetic causes and effects, inheritance patterns, and treatment options such as blood transfusions, iron chelation therapy, and bone marrow transplantation.
Thalassemia
This document discusses thalassemia, specifically alpha and beta thalassemia. It describes the genetics, pathophysiology, clinical presentations, and laboratory diagnosis of the different types. The main points are:
1) Thalassemia results from inherited abnormalities in globin chain production, causing excess unpaired chains. Alpha thalassemia affects alpha chain production, while beta thalassemia affects beta chain production.
2) There are different clinical syndromes for each type depending on the severity of the genetic mutation, ranging from silent carriers to severe anemia requiring transfusions.
3) Laboratory testing helps diagnose and classify the specific type of thalassemia based on hemoglobin electrophoresis
Short Review of Thalassemias
This document provides information on thalassemia, a group of genetic disorders that result in reduced hemoglobin production and anemia. It discusses the different types of thalassemia including alpha and beta thalassemia. Alpha thalassemia is caused by genetic deletions of the alpha globin genes and has varying severity from silent carrier to Hemoglobin H Disease to Bart's Hydrops Fetalis Syndrome. Beta thalassemia results from mutations in the beta globin genes and includes forms ranging from silent carrier to beta thalassemia minor to intermedia to major. Laboratory tests outlined can help diagnose and differentiate types of thalassemia based on red blood cell morphology, hemoglobin analysis and iron studies.
Thalassemia
This document provides information on thalassemia. It describes thalassemia as an autosomal dominant disorder caused by mutations that decrease the synthesis of the alpha and beta globin chains. There are two main types: alpha thalassemia and beta thalassemia. Beta thalassemia is further classified as B thalassemia zero, beta plus, beta thalassemia minor and beta thalassemia major depending on the severity of the reduction in beta globin synthesis. Common causes of beta thalassemia include mutations that affect RNA splicing, transcription of the beta globin promoter, or the beta globin coding region. Clinical features of thalassemia include anemia, skeletal abnormalities,
anemia and thalassemia genetic bases ,the molecular defects and pathophysiol...
anemia and thalassemia genetic bases ,the molecular defects and pathophysiol...imam univarsity , college of medicine .
1• Define anemia and it's genetic bases.2• Describe thalassemia and it's genetic bases.3• What is the molecular defects and pathophysiology of thalassemia 4• Describe the diagnostic test that detect genetic mutation of thalassemia 5• Overview of pre-marital screening test.Thalesemi.ppt
Thalassemia is an inherited blood disorder caused by a genetic defect that results in reduced or absent amounts of hemoglobin. There are two main types: alpha thalassemia affects alpha globin protein production, while beta thalassemia affects beta globin protein production. Symptoms include fatigue, weakness, jaundice, and growth failure in severe cases. Treatment depends on the type and severity, and may include regular blood transfusions, iron chelation therapy, folic acid supplements, and bone marrow transplants in severe cases.
Beta Thalassemia najmaldin saki
This document summarizes beta thalassemia, a genetic blood disorder caused by a decreased production of the beta globin chain. It discusses the molecular defects that can cause beta thalassemia, resulting in reduced or unstable beta globin mRNA. It describes the clinical features of beta thalassemia major, also known as Cooley's anemia, which is characterized by severe anemia and other complications if not treated with regular blood transfusions. It provides information on some common lab findings in beta thalassemia and differences in hemoglobin levels between different types.
Thalassemia
• Thalassemia
• Hemoglobinopathies
• Incidence of thalassemia in Thailand
• Mode of inheritance
• How to name thalassemia ?
• Common types of thalassemia
• Alpha Thalassemia
• Symbolism Alpha Thalassemia
• Classification & Terminology Alpha Thalassemia
• Types of a-thalassemia
• Compound heterozygotes
• Comparison of α Thalassemias
• Beta thalassemias (β thalassemias)
• Types of β Thalassemia
• β Thalassemia Symptoms Include
• Diagnosis of Beta Thalassemia
• Prevention
• What Is The Treatment For Thalassemia
Overview of thalassemia 2
- Thalassemia is a genetic blood disorder caused by mutations in hemoglobin genes. It results in decreased or absent globin chains and abnormal hemoglobins.
- There are two main types - alpha and beta thalassemia. Beta thalassemia major requires lifelong blood transfusions and causes iron overload.
- India has a high burden of thalassemia with over 10,000 children born with thalassemia major each year. Carrier rates vary regionally from 1-15% in different parts of India.
- Management involves blood transfusions to prevent complications from anemia. Iron chelation therapy is also required to manage iron overload from frequent transfusions. Bone marrow
Thalassemia
Thalassemia Dr.Ahmad Qassm :What is thalassemia ,INTRODUCTION of thalassemia,Types,Signs & Symptoms of thalassemia ,Diagnosis of thalassemia ,Treatment and Food Treatment of thalassemia ,Iron chelation therapy of thalassemia ,Bone Marrow & Stem Cell Transplant of thalassemia ,Possible Future Treatments of Thalassemia
Thallessemia
The patient has beta-thalassemia based on his anemia, hepatosplenomegaly, and small size. Beta-thalassemia is a hereditary blood disorder caused by a defect in the gene responsible for producing the beta chain of hemoglobin. This leads to reduced hemoglobin and anemia. The document discusses the molecular basis, clinical features, epidemiology, and radiographic manifestations of beta-thalassemia.
Genetics of Thalassemia
This patient is married to a man from Saudi Arabia whose family members require regular blood transfusions. She is concerned about the risk of genetic disorders causing anemia in her potential children. The document discusses thalassemia, a genetic blood disorder caused by defects in hemoglobin production. It explains the genetics and inheritance of alpha and beta thalassemia. The advisor would recommend confirming the blood conditions of the parents, performing lab work and genetic testing, and providing genetic counseling to help the couple understand the risks and make informed reproductive decisions.
Thalassemia
Thalassemia is a blood disorder passed down through families (inherited) in which the body makes an abnormal form or inadequate amount of hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen. The disorder results in large numbers of red blood cells being destroyed, which leads to anemia.
Thalassemia alpha and beta
Thalassemia is a genetic blood disorder caused by mutations in the genes that control globin production. There are two main types - alpha thalassemia affects alpha globin genes, while beta thalassemia affects beta globin genes. Thalassemia severity depends on the number of affected genes, ranging from no symptoms to severe anemia requiring chronic blood transfusions. The thalassemia gene is maintained in populations where malaria is common due to heterozygote resistance to the disease.
thalassemia
Thalassemia is a blood disorder caused by variants or missing genes that affect hemoglobin production. There are two main types: alpha thalassemia affects alpha globin gene expression, while beta thalassemia is caused by a deficiency in beta globin production. People with beta thalassemia experience anemia and other health issues due to the lack of functional hemoglobin in red blood cells. Treatment involves regular blood transfusions combined with iron chelation therapy or bone marrow transplants in severe cases.
Thalassemia
Thalassemia, alpha and beta, major and minor thalassemia, complications, diagnosis and treatment of thalassemia.
Non transfusion dependent thalassemias beta-thalassemia intermedia and hb e b...
Non transfusion dependent thalassemias beta-thalassemia intermedia and hb e b...Thalassaemia International Federation
Careful monitoring during pregnancy
- Blood transfusions if Hb<9gm/dl
- Iron chelation if serum ferritin >1000mcg/L
- Splenectomy if spleen size >3cm/year
- Monitor fetal growth by ultrasound
Pregnancy outcomes are improved with optimal care. 31
beta thalassemia intermedia
Complications:
- Iron overload
- Cardiac disease
- Leg ulcers
- Liver disease
- Extramedullary masses
- Bone abnormalities
- Pulmonary hypertension
Prevention and treatment requires a multidisciplinary
approach including blood transfusions, iron chelation
therapy, splenectomy, hydroxyureathalassemia
Inherited blood disorders like thalassemia are caused by abnormal hemoglobin production and are inherited from parents. There are two main types, alpha and beta thalassemia, which can range in severity depending on the specific genes affected. Signs and symptoms include iron overload, infection risk, bone deformities, enlarged spleen, slowed growth, and heart problems. Thalassemia is diagnosed through blood tests and DNA analysis and treated through blood transfusions, stem cell transplants, or gene/bone marrow therapies. Prevention efforts focus on genetic counseling and testing of families with a history of thalassemia.
Thalassemia
This document discusses thalassemia, an inherited blood disorder characterized by reduced or absent hemoglobin. There are two main types: alpha thalassemia affects hemoglobin production; beta thalassemia has four forms ranging from mild (trait) to severe (major). Symptoms include anemia, fatigue, bone changes. Treatment involves blood transfusions, iron chelation therapy, and potentially splenectomy or bone marrow transplant.
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anemia and thalassemia genetic bases ,the molecular defects and pathophysiol...
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Non transfusion dependent thalassemias beta-thalassemia intermedia and hb e b...
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Polycythemia Vera
Polycythemia vera is a rare acquired myeloproliferative disorder characterized by an overproduction of red blood cells. It results from a mutation in the JAK2 signaling molecule in 95% of cases. Symptoms include headache, dizziness, and fatigue due to expanded blood volume. Laboratory findings show elevated hematocrit and low erythropoietin levels. Treatment involves regular phlebotomy to reduce red blood cell counts and medications to control thrombocytosis and itching.
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Hemolytic anaemia can be classified as either intracorpuscular or extracorpuscular. Intracorpuscular hemolytic anemia is caused by abnormalities of red blood cell membranes, hemoglobin defects, or enzyme defects. Extracorpuscular hemolytic anemia can be immune-mediated or non-immune. Some specific causes of hemolytic anemia discussed in the document include hereditary spherocytosis, thalassemia, sickle cell anemia, glucose-6-phosphate dehydrogenase deficiency, and autoimmune hemolytic anemia. The document provides details on epidemiology, etiology, pathogenesis, clinical features, diagnosis, and treatment of these conditions.
Haemolytic anaemia
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- 2. Eyes Face Skin Spleen Liver Bones
- 8. Structure of alpha gene
- 12. TYPES OF ALPHA THALASSEMIA α -Thalassemias Genetic Representation Silent Carrier - α / αα α -Thalassemia Trait-1 --/ αα α -Thalassemia Trait-2 - α /- α Hemoglobin H Disease (formation of β 4 tetramer) --/- α Hydrops Fetalis (formation of Hb Barts i.e. ϒ 4 ) --/--
- 14. Structure of Beta gene
- 16. TYPES OF BETA THALASSEMIA β -Thalassemias Genetic Representation β -Thalassemia Major β + / β + , β + / β 0 , β 0 / β 0 β -Thalassemia Intermedia Milder variants of β + / β + and β + / β 0 β -Thalassemia Minor β + / β , β 0 / β