In News:

The National Institute of Immunohaematology (NIIH) has indigenously developed a simple, affordable, and rapid point-of-care test kit for the early diagnosis of Haemophilia A and Von Willebrand Disease (VWD). This development marks a significant step in improving accessible healthcare diagnostics for genetic bleeding disorders in India.

Significance of the Innovation:

• Affordable and accessible: Enables early diagnosis at primary health centres and in low-resource settings.
• Supports Universal Health Coverage: Improves detection and timely treatment, reducing morbidity.
• Make in India in Health Sector: A boost to indigenous biomedical research and diagnostics.

About Haemophilia A

What is it?

• A hereditary bleeding disorder caused by insufficient levels of Factor VIII, a protein essential for blood clotting.
• Part of the broader group of genetic conditions known as inherited coagulopathies.

Causes:

• Deficiency or dysfunction of coagulation Factor VIII in the coagulation cascade.
• Usually inherited through an altered gene passed from parents.

Genetic Transmission:

• X-linked recessive inheritance:
  • Males with the defective gene express the disease.
  • Females are typically carriers, though they may show mild symptoms.

Symptoms:

• Prolonged bleeding, often seen after circumcision or minor injuries.
• Internal bleeding, particularly into joints, causing pain and swelling.
• Other signs include:
  • Nosebleeds
  • Blood in stool/urine
  • Bruising
  • Bleeding after surgery or dental procedures

Treatment:

• Factor VIII replacement therapy: Intravenous infusion of the missing clotting factor.
• Preventive therapy (prophylaxis) to reduce the frequency of bleeding episodes.

About Von Willebrand Disease (VWD)

What is it?

• A genetic bleeding disorder caused by a deficiency or dysfunction of von Willebrand factor (VWF), which helps platelets stick together to form blood clots.

Causes:

• Inherited from one or both parents.
• People with VWD have:
  • Low levels of VWF, or
  • VWF that does not function properly.

Symptoms:

• Often asymptomatic unless triggered by injury or surgery.
• Common symptoms include:
  • Easy bruising
  • Frequent nosebleeds
  • Bleeding gums
  • Heavy or prolonged menstruation (menorrhagia)
  • Post-operative bleeding
• Severe cases may show:
  • Internal joint bleeding
  • Blood in urine (hematuria)
  • Blood in stool (melena)

Treatment:

• No cure, but manageable with:
  • Desmopressin (DDAVP) to release stored VWF.
  • VWF and Factor VIII concentrates.
  • Self-care measures to reduce bleeding risks.