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Hemophilia

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Definition of Hemophilia

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Hemophilia is a rare genetic disorder in which blood does not clot properly due to a lack of sufficient blood-clotting proteins (clotting factors).

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Types of Hemophilia

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The main types are Hemophilia A (factor VIII deficiency) and Hemophilia B (factor IX deficiency), also known as Christmas disease.

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Pathogenesis of Hemophilia A

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Hemophilia A is caused by mutations in the F8 gene, leading to deficient or defective production of clotting factor VIII.

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Gene Therapy for Hemophilia

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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.

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Diagnostic Tests for Hemophilia

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Diagnosis involves blood tests to measure clotting factor levels, with genetic testing available to identify specific mutations in the F8 or F9 genes.

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Complications of Hemophilia

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Untreated hemophilia can lead to severe complications like bleeding in joints (hemarthrosis), which can result in joint damage and chronic pain.

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Pathogenesis of Hemophilia B

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Hemophilia B results from mutations in the F9 gene, which leads to deficient or defective production of clotting factor IX.

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Treatment with Replacement Therapy

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Treatment commonly involves replacing the missing clotting factors, either regularly as a preventative (prophylactic) measure or to manage bleeding episodes.

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Impact of Hemophilia on Quality of Life

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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.

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Inheritance Pattern of Hemophilia

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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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