World Haemophilia Day: Over 60% cases undiagnosed because of unawareness

World Hemophilia Day is observed evry year on April 17 to create awareness around haemophilia. It is a rare genetic bleeding disorder in which the blood does not clot properly and the bleeding continues for long. The disease more common in men occurs due to alterations in genes that regulate our body to stop bleeding. There is no cure for the bleeding disorder currently and it’s important to take measures for its management.

In absence of awareness about the genetic disorder, about 60% cases of haemophilia go undiagnosed and unreported. In India, there are many cases of haemophilia and the patients often suffer in silence. Hemophilia is a fatal bleeding disorder that stops blood from clotting and is present from birth.

Haemophila A and B are most common, caused by alterations or mutations in F8 or F9 gene respectively on X- chromosomes. The genes associated with haemophilia A and B, F8 and F9, respectively, provide instructions for producing clotting factors VIII and IX. Haemophilia C, caused by deficiency in factor XI located on an autosome, however is rare.

Dr Vivek Mahajan, Senior Consultant, Orthopedic and Joint Replacement Surgeon at Indian Spinal Injuries Centre, said, “Joint damage is one of the most significant complications of hemophilia A. Repeated bleeding into the joints can cause pain, stiffness, and limited mobility. Over time, this can lead to arthritis and other joint problems. It is estimated that up to 90% of people with severe hemophilia will experience joint damage at some point in their lives. Early treatment is not only important for managing joint damage, but it can also improve the overall quality of life for people with hemophilia A. Prophylaxis is a treatment that involves regularly infusing clotting factors into a patient’s bloodstream to prevent bleeding episodes”.