Hemophilia

What it is, what to do about it, and how to get help.

What is Hemophilia

Hemophilia is a bleeding disorder where people bleed longer than usual due to missing or low levels of specific clotting factors. The most common types are hemophilia A (factor VIII deficiency) and hemophilia B (factor IX deficiency). It is inherited and caused by a change (mutation) in the genes responsible for clotting factor production. With appropriate, physician-directed care, people with hemophilia can live active lives.

Symptoms and Diagnosis

Diagnosis is by screening coagulation tests and factor assays to measure levels of clotting factors.

Genetic Inheritance

Hemophilia is typically inherited in an X-linked pattern. Males (XY) with the affected X chromosome have hemophilia. Females (XX) with one affected X are often carriers and may have symptoms; females with two affected X chromosomes can have hemophilia.

Treatment and Management

Management may include factor replacement therapy or other therapies as available, physiotherapy to protect joints and mobility, and education on bleed prevention and first aid. Regular follow-up at a comprehensive care center is recommended.

Women and Girls with Hemophilia

Women can be carriers and may have bleeding symptoms; some women and girls have hemophilia. Symptoms can include heavy menstrual bleeding and bleeding with common gynecologic procedures. Evaluation and care with experienced clinicians is important.

Genetic Counseling

Genetic counseling helps families understand inheritance, testing options, and implications for family planning and care decisions.

For authoritative guidance and resources, refer to Hemophilia Federation (India) and the World Federation of Hemophilia.

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