Description

Hemophilia: Overview Hemophilia is a rare, inherited bleeding disorder where the blood does not clot properly due to a deficiency in clotting factors. This leads to prolonged bleeding after injuries, surgeries, or even spontaneous internal bleeding. Types of Hemophilia Hemophilia A (Classic Hemophilia) Cause: Deficiency of Factor VIII (most common type, ~80% of cases). Severity: Mild (5–40% normal factor activity) Moderate (1–5%) Severe (<1%) Hemophilia B (Christmas Disease) Cause: Deficiency of Factor IX. Similar symptoms to Hemophilia A but less common. Hemophilia C (Rare) Cause: Deficiency of Factor XI. Milder symptoms, mostly seen in Ashkenazi Jewish populations. Symptoms Excessive bleeding from minor cuts or injuries. Frequent nosebleeds (epistaxis). Bruising easily (large, deep bruises). Joint bleeding (hemarthrosis), leading to pain/swelling (common in knees, elbows, ankles). Blood in urine or stool. Prolonged bleeding after surgery, dental work, or childbirth. (In severe cases, spontaneous bleeding can occur without injury.) Causes & Inheritance Genetic mutation (X-linked recessive pattern). Affects mostly males (since they have only one X chromosome). Females are usually carriers but can have mild symptoms in rare cases. Diagnosis Blood tests: Clotting factor assays (measure levels of Factor VIII or IX). PT (Prothrombin Time) – Usually normal. aPTT (Activated Partial Thromboplastin Time) – Prolonged. Genetic testing (to confirm mutations). Treatment Options Replacement Therapy (Main Treatment) IV infusions of recombinant clotting factors (Factor VIII for Hemophilia A, Factor IX for Hemophilia B). Prophylactic (preventive) therapy – Regular infusions to prevent bleeding episodes (common in severe cases). Desmopressin (DDAVP) Used for mild Hemophilia A to stimulate Factor VIII release. Antifibrinolytic Medications (e.g., Tranexamic Acid) Helps stabilize clots (used for mouth or nosebleeds). Gene Therapy (Emerging Treatment) Experimental treatments aim to restore clotting factor production. First Aid for Bleeding R.I.C.E. method (Rest, Ice, Compression, Elevation) for joint bleeds. Complications Chronic joint damage (from repeated bleeding into joints). Infections (from blood transfusions, though rare with modern screening). Inhibitors (antibodies that attack clotting factors, making treatment difficult). Living with Hemophilia ✔ Avoid high-contact sports (e.g., football, boxing). ✔ Use soft-bristle toothbrushes to prevent gum bleeding. ✔ Wear medical alert bracelets. ✔ Regular check-ups with a hematologist.

Filter tags