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    Haemophilia Care Advances: From Bleed Management to Proactive Prevention

    For Prelims:

    • Rare inherited bleeding disorder
    • clotting factor deficiency
    • Haemophilia A
    • Factor VIII deficiency
    • reduced blood clotting
    • excessive bleeding
    • spontaneous internal bleeding

    For Mains:

    • 1 in 10,000 births prevalence
    • India diagnosis gap
    • estimated 1–1.5 lakh cases
    • 29,000 diagnosed
    • 20% identified
    • low awareness
    • limited diagnostics
    • socio-economic barriers
    • restricted testing and treatment access

    Haemophilia, a rare bleeding disorder, is shifting to preventive care with new therapies aiming for “zero bleeds.” India faces diagnosis gaps due to low awareness and limited facilities, impacting timely treatment access.

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    Context

    • Recently, haemophilia care has been transforming — moving from reactive bleed management to proactive prevention through prophylaxis, with new therapies aiming to not only rebalance the body’s clotting system but also restore it, bringing the long-sought goal of “zero bleeds” closer to reality.

    About Haemophilia

    A rare inherited bleeding disorder caused by a deficiency of clotting factors, most commonly Factor VIII in Haemophilia A.

    • Leads to severely reduced blood clotting ability, where even minor injuries can result in excessive bleeding.
    • Can cause spontaneous internal bleeding into joints and muscles, leading to pain, disability, and potentially life-threatening complications such as brain bleeds.
    • Caused by a mutation in genes responsible for producing clotting factor proteins; these genes are located on the X chromosome, making men more vulnerable.
    • Prevalence: Around 1 in 10,000 births
    • India’s Diagnosis Gap: Estimated cases: 1–1.5 lakh (based on global prevalence).
      • Diagnosed cases: ~29,000 (only about 20% identified).
      • Key barriers to diagnosis: Low public and medical awareness.
        • Limited diagnostic facilities.
        • Socio-economic constraints restricting access to testing and treatment.

    Prelims:

    Q. UPSC PRELIMS, 2020
    With reference to genetic disorders, consider the following:
    1. A person with a single X chromosome has Turner syndrome.
    2. A person with an extra copy of chromosome 21 has Down syndrome.
    3. A male with an extra X chromosome has Klinefelter syndrome.
    Which of the statements given above is/are correct?
    (a) 1 only
    (b) 2 and 3 only
    (c) 1 and 3 only
    (d) 1, 2 and 3

    Ans:

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