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investigations of hemophilia

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investigations of hemophilia

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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). Here are the steps to investigate hemophilia:

  1. Medical History: The first step in investigating hemophilia is to take a detailed medical history. This includes asking about any family history of bleeding disorders, as hemophilia is usually inherited.

  2. Physical Examination: A physical examination may be conducted to check for signs of bleeding or bruising.

  3. Blood Tests: If hemophilia is suspected, blood tests will be done to determine how long it takes for the blood to clot, and to test for the amount and activity of clotting factors in the blood. These tests can help determine the type of hemophilia and its severity.

    • Complete Blood Count (CBC): This test measures the amount of red blood cells, white blood cells, and platelets in the blood. People with hemophilia usually have a normal CBC.

    • Activated Partial Thromboplastin Time (APTT) Test: This test measures how long it takes for blood to clot. If the blood takes longer than normal to clot, it may suggest hemophilia.

    • Factor VIII and IX Tests: These tests measure the amount and activity of factor VIII and IX in the blood. Low levels of these factors may indicate hemophilia A or B, respectively.

  4. Genetic Testing: If the blood tests suggest hemophilia, genetic testing may be done to confirm the diagnosis and identify the specific mutation causing the disorder. This can also help determine if other family members are at risk of the disease.

  5. Severity Assessment: Based on the level of clotting factor activity, hemophilia can be classified as mild, moderate, or severe. This helps in planning the appropriate treatment.

  6. Treatment Plan: Once the type and severity of hemophilia are determined, a treatment plan is developed. This usually involves replacing the missing clotting factor through infusions into a vein.

Remember, it's important to consult with healthcare professionals for accurate information and treatment options.

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Hemophilia A is a genetic deficiency of the factor VIII protein involved in blood clotting. This disorder is more common in males becauseMultiple choice question.the affected gene is on the Y chromosome.only males have this blood clotting protein.only females have this blood clotting protein.the affected gene is on the X chromosome.

Monsieur S.A âgé de 20 ans, sans antécédents pathologiques présente après 5 jours d'une intervention chirurgicale un saignement de la plaie. le bilan d'hémostase objective un allongement Isole du TCA. Parmi les diagnostics suivants, lequel est le plus probable ?AHémophilie B sévèreBHémophilie A sévèreCDéficit en facteur XII de la coagulationDDéficit en facteur X de la coagulationEDéficit en facteur XI de la coagulation

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