HAEMOPHILIA (Syllabus: GS Paper 3 – Sci and Tech)

Context: India has conducted the first human clinical trial of gene therapy for haemophilia A (FVIII deficiency) at Christian Medical College (CMC) Vellore.

Haemophilia

• About: It is typically an inherited bleeding disorder characterized by ineffective blood clotting, leading to spontaneous or post-injury bleeding episodes.
• Clotting Factors: Blood contains clotting factors crucial for clot formation; individuals with haemophilia lack adequate levels of either factor VIII (8) or factor IX (9), determining the severity of the condition.
• Types: Hemophilia A (Classic Hemophilia) and Hemophilia B (Christmas Disease)
• Inheritance and Occurrence: Hemophilia is primarily inherited but can also develop later in life, particularly in middle-aged or elderly individuals, or in young postpartum women.
• Causes: Hemophilia stems from mutations in genes responsible for producing clotting factor proteins essential for blood clot formation.
• Signs and Symptoms: Bleeding into joints, skin, muscle, and soft tissues are common manifestations, often leading to pain, swelling, or bruising.

oOral bleeding, post-tooth extraction bleeding, and bleeding post-vaccination are also observed symptoms.

• Affected Population: Hemophilia affects approximately 1 in 5,000 male births, with an estimated 20,000 to 33,000 males in the United States living with the disorder, predominantly with hemophilia A. It affects individuals across all racial and ethnic groups.
• Treatment: The primary treatment for hemophilia involves the replacement of deficient clotting factors through the infusion of commercially prepared factor concentrates administered intravenously.

Gene Therapy

• About: Gene therapy is a technique aimed at treating, preventing, or curing diseases by utilizing specific genes.
• Mechanism: The process commonly involves introducing new copies of a defective gene or replacing it with a healthy version within the patient's cells.
• Scope of Treatment: Gene therapy addresses both inherited genetic disorders like hemophilia and sickle cell disease, as well as acquired disorders such as leukemia.