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Haemophilia A

12-12-2024

10:30 AM

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1 min read
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Overview:

Scientists in India have reported success with using gene therapy to treat severe haemophilia A.

About Haemophilia A:

  • Hemophilia A (classic hemophilia) is one of three types of hemophilia, a rare, inherited blood disorder.
  • It happens when your blood doesn’t clot as it should, which is when bleeding stops or slows down.
  • It is a sex-linked disorder. The gene for haemophilia is carried on the X chromosome.
  • Causes:
    • When you bleed, a series of reactions take place in the body that helps blood clots form. This process is called the coagulation cascade.
    • It involves as many as 20 different special proteins called coagulation, or clotting, factors.
    • You may have a higher chance of excess bleeding if one or more of these factors are missing or are not functioning like they should.
    • Hemophilia A is caused by a lack of blood clotting factor VIII. Without enough factor VIII, the blood cannot clot properly to control bleeding.
  • Symptoms:
    • The severity of symptoms varies. Prolonged bleeding is the main symptom.
    • Bleeds can occur internally,in joints and muscles, or externally, from minor cuts, dental procedures, or injuries.
  • Treatment:
    • It is treated by boosting clotting factor levels or replacing missing clotting factors (replacement therapy).
    • Other treatments may include medications to promote clotting or surgery to repair damage caused by bleeding.

Q1: What is X chromosome?

It is one of the two sex chromosomes in humans (the other is the Y chromosome). There are 23 pairs of chromosomes in the human body. This includes 22 pairs of autosomal or somatic chromosomes that are common to both men and women and one chromosome that differs according to what gender a person is (sex chromosomes). Each person usually has one pair of sex chromosomes in each cell. Females typically have two X chromosomes, while males typically have one X and one Y chromosome.

News: Indian scientists develop novel gene therapy treatment for haemophilia