The pursuit of a cure for hemophilia – Vasanth Thamodaran

History books, from as early as 2nd century AD, indicate knowledge of a mysterious bleeding disease that mostly affected men. Hemophilia, as we know it now, wreaked havoc through generations in families that carried the disease. In the early 1900’s life expectancy for those afflicted with hemophilia was 13 years. We’ve come a long way in managing hemophilia since then and may now even be at the cusp of having a cure.

The two major subtypes, hemophilia A and B, are caused by mutations in genes found on the X chromosome, predominantly affecting males with a frequency of 1 in 5,000 and 1 in 30,000 males, respectively. These mutations lead to the deficiency or absence of certain blood clotting factors, resulting in excessive bleeding in case of injury. Excluding cases of bleeding caused due to external injury, the majority of complications are associated with the musculoskeletal system, resulting in progressive joint damage and disability. But any instances of bleeding in the central nervous system or vital organs can be life-threatening.

A global survey published by the World Federation of Hemophilia (WFH) in 2019-2020 showed that India, with 23,666 cases, had the highest number of registered hemophilia cases, followed by the U.S. with 18,008 cases. Out of the 23,666 cases, about 19,690 cases were hemophilia A (83%), 3,150 were hemophilia B (13%) and about 826 (3.4%) were of an unknown type. However, given the frequency of disease occurrence, the number of cases is likely to be vastly underreported.

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