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Hemophilia
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Definition of Hemophilia
Hemophilia is a rare genetic disorder in which blood does not clot properly due to a lack of sufficient blood-clotting proteins (clotting factors).
Types of Hemophilia
The main types are Hemophilia A (factor VIII deficiency) and Hemophilia B (factor IX deficiency), also known as Christmas disease.
Pathogenesis of Hemophilia A
Hemophilia A is caused by mutations in the F8 gene, leading to deficient or defective production of clotting factor VIII.
Gene Therapy for Hemophilia
Gene therapy, an evolving treatment method, aims to introduce a functional copy of the deficient gene into the patient's cells to restore clotting factor production.
Diagnostic Tests for Hemophilia
Diagnosis involves blood tests to measure clotting factor levels, with genetic testing available to identify specific mutations in the F8 or F9 genes.
Complications of Hemophilia
Untreated hemophilia can lead to severe complications like bleeding in joints (hemarthrosis), which can result in joint damage and chronic pain.
Pathogenesis of Hemophilia B
Hemophilia B results from mutations in the F9 gene, which leads to deficient or defective production of clotting factor IX.
Treatment with Replacement Therapy
Treatment commonly involves replacing the missing clotting factors, either regularly as a preventative (prophylactic) measure or to manage bleeding episodes.
Impact of Hemophilia on Quality of Life
Hemophilia can impact quality of life by causing limitations in physical activity, increased medical interventions, and psychological stress from the chronic nature of the disease.
Inheritance Pattern of Hemophilia
Hemophilia A and B are typically inherited in an X-linked recessive pattern, affecting mostly males, with females often being carriers.
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