The annual observance of World Haemophilia Day on the 17th of April serves as a platform to elevate awareness about haemophilia and other hereditary bleeding disorders. The day is a tribute to Frank Schnabel, founder of the internationally recognized organization, the World Federation of Haemophilia (WHF). The 2022 theme is “Access for All: Partnership. Policy. Progress”, which encourages the integration of inherited bleeding disorders into national healthcare policies.
Understanding Haemophilia
Haemophilia is a blood disorder, primarily inherited, in which the patient’s blood clotting ability is significantly impaired. Even a minor scrape or cut can provoke severe bleeding in individuals with Haemophilia. The root cause of Haemophilia is a mutation in one of the genes responsible for the production of clotting factor proteins crucial for blood clot formation. This mutation can cause the clotting protein to malfunction or be absent altogether. As these genes lie on the X chromosome, men are more susceptible to Haemophilia than women. A quite rare disease, approximately 1 in every 10,000 people are born with it.
Types and Symptoms
Two major types of Haemophilia exist; Haemophilia A and B. Haemophilia A results from a lack of clotting factor VIII (eight) and is the most common type. On the other hand, Haemophilia B arises when there is a deficiency of clotting factor IX (nine). Haemophilia A occurs at a rate of around 1 in 5,000 births. Haemophilia B is rarer, occurring in about 1 in 20,000 births.
Patients may experience symptoms such as large bruises, internal bleeding in muscles and joints, spontaneous bleeding with no apparent cause, and prolonged bleeding times following minor injuries or procedures.
Treatment: The Role of Replacement Therapy
The standard treatment for Haemophilia is called Replacement Therapy. This therapy involves slow infusions or injections of clotting factor VIII concentrates (for Haemophilia A) or clotting factor IX concentrates (for Haemophilia B) into a vein. The introduction of these factors helps replace the low or missing clotting factors in the patient’s blood.
Haemophilia in India
As per the World Federation of Haemophilia’s Annual Global Survey 2017, the global count of individuals living with haemophilia was more than 1.96 lakh in 2017. With a tally close to 19,000, India had the highest count of people with haemophilia among all countries. However, it’s estimated that 80% of cases go unregistered, which indicates that the actual count could be nearly 2 lakh.
About the World Federation of Haemophilia (WFH)
The World Federation of Haemophilia (WFH) is a not-for-profit international organization founded in 1963. With a network of patient associations in 140 countries and formal recognition from the World Health Organization, WFH aims to improve and sustain care for people with inherited bleeding disorders worldwide.