Haemophilia A Current Affairs - 2019

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Rapid and Cheap Diagnostic test for Haemophilia A developed

Indian Council of Medical Research’s (ICMR) National Institute of Immunohaematology (in Mumbai) has developed a cost-effective Point-of-Care (POC) rapid diagnostic test for severe genetic disorders Haemophilia A (also called factor VIII (FVIII)) and Von Willebrand Disease (VWD).

Key Features of POC Diagnostic Test

  • Earlier Concern: Lack of diagnostic facilities and awareness as well as high costs of tests is leading to under diagnosis of bleeding disorders.
  • Diagnosis of: The newly developed POC test kit can be used for diagnosis of undiagnosed patients, post-partum haemorrhage (PPH), menorrhagia cases, recovery of factors in the transfused Haemophilia A patients, gynaecological complications with bleeding history, and also for differential diagnosis of both diseases.
  • Cost Effective: As per ICMR working cost of these kits is less than ₹50 which is too much less in comparison to existing conventional tests available for the diseases that costs around ₹4,000 to ₹10,000.
  • Rapid: With help of POC test, diagnosis can be done within half an hour (30 minutes) of blood sample collection.
  • Importance: This is World’s first Point-of-Care (POC) test for specific diagnosis of any common bleeding disorder.
  • Fatal Disease: Patients with severe Haemophilia A or Von Willebrand Disease (VWD) can have severe life threatening spontaneous or post-traumatic bleeding such as gastrointestinal bleed and brain haemorrhage or they may also have bleeding into joints or superficial bleeding from gums or nose.

About Von Willebrand Disease (VWD)

  • It is a genetic disorder caused by missing or defective Von Willebrand factor (VWF). VWF is a clotting protein.
  • In normal case when a blood vessel is injured and bleeding occurs, VWF helps platelets to mesh together and form a clot to stop bleeding. But in case of people with VWD, they do not have enough VWF, or it does not work effectively (the way it would in normal case), thus it takes longer time for blood clotting and to stop bleeding.
  • As per estimations up to 1% of world’s population suffers from VWD.

World Haemophilia Day 2019

April 17 is observed as World Haemophilia Day. The World Haemophilia Day 2019 is aimed at reaching out and identifying new members of the bleeding disorders community.

April 17 is observed as World Hemophilia Day to commemorate the birthday of Frank Schnabel who established the World Federation of Haemophilia in 1963.

Haemophilia and its Occurrence

Haemophilia is a medical condition in which the ability of blood to clot is severely reduced. As a result, even a minor injury can cause severe bleeding. It is mostly inherited and is attributed to the defect in the X chromosome.

If a girl is born with one defective X chromosome, her other X chromosome can compensate for it. As a result, she will be a carrier of haemophilia but she herself will not suffer from the condition. On the other hand, if both of her X chromosomes are defective she is bound to suffer from haemophilia.

If a boy is born with a defective X chromosome, he does not have the second X chromosome to compensate for it. Hence he will suffer from haemophilia. That is the reason haemophilia is more common among men.

Britain’s Queen Victoria is the world’s most widely known carrier of haemophilia. From her, the condition spread to a number of European royal families. Hence haemophilia is often referred to as the Royal Disease.

Haemophilia A, occurs in about 1 in 5,000 births, while Haemophilia B is even rarer at about 1 in about 20,000 births. According to the World Federation of Haemophilia’s Annual Global Survey 2017, there were over 1.96 lakh persons living with haemophilia across the world in 2017 and India emerged with the highest count at nearly 19,000.