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 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 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.
THROMBOCYTOPENIA is decreased platelet count we call it thrombocytopenias. causes of this are called an infection, cancer condition, some type of the drugs like heparin, etc. signs and symptoms of the is bleeding tendency patiche, purpuraetc/ the management of this is plasma transfusion admin situation of some of the drug immunotherapy is helpful for this condition. surgery splenectomy.
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 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 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.
THROMBOCYTOPENIA is decreased platelet count we call it thrombocytopenias. causes of this are called an infection, cancer condition, some type of the drugs like heparin, etc. signs and symptoms of the is bleeding tendency patiche, purpuraetc/ the management of this is plasma transfusion admin situation of some of the drug immunotherapy is helpful for this condition. surgery splenectomy.
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 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.
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Hemophilia is a rare disorder in which your blood doesn't clot normally because it lacks sufficient blood-clotting proteins (clotting factors). If you have hemophilia, you may bleed for a longer time after an injury than you would if your blood clotted normally. Small cuts usually aren't much of a problem.
2. Haemophilia
Defenition: It is a group of hereditary genetic
disorders that impair the body's ability to
control blood clotting or coagulation, which is used to stop
bleeding when a blood vessel is broken. So if you have
hemophilia, you may bleed for a longer time than others
after an injury.
5. What Causes Hemophilia?
It's caused by a defect in one of the genes that
determine how the body makes blood clotting factor
VIII or IX. These genes are located on the X
chromosomes. Chromosomes come in pairs.
Females have two X chromosomes, while males have
one X and one Y chromosome. Only the X
chromosome carries the genes related to clotting
factors. A male who has a faulty hemophilia gene on
his X chromosome will have hemophilia.
6. A female must have the faulty gene on
both of her X chromosomes to have
hemophilia, which is very rare. If a female
has the faulty gene on only one of her X
chromosomes, she is a "hemophilia
carrier.” Carriers don't have hemophilia,
but they can pass the faulty gene to their
children. Below are two examples of how
the hemophilia gene is inherited.
7.
8.
9. Treatment
The main treatment for hemophilia is called
replacement therapy. Concentrates of clotting factor
VIII (for hemophilia A) or clotting factor IX (for
hemophilia B) are slowly dripped or injected into a
vein. These infusions help replace the clotting factor
that's missing or low.
Clotting factor concentrates can be made from
human blood. The blood is treated to prevent the
spread of diseases, such as hepatitis. With the
current methods of screening and treating donated
blood, the risk of getting an infectious disease from
human clotting factors is very small.
10. Other Types of Treatments
A-Antifibrinolytic Medicines
Antifibrinolytic medicines (including tranexamic acid
and aminocaproic acid) may be used with replacement
therapy. They're usually given as a pill, and they help
keep blood clots from breaking down.
These medicines most often are used before dental
work or to treat bleeding from the mouth or nose
B-Desmopressin
Desmopressin (DDAVP) is a man-made hormone used
to treat people who have Haemophilia. DDAVP
stimulates the release of stored factor VIII. DDAVP
usually is given by injection or as nasal spray.