About 60% of cases of haemophilia, a rare genetic illness that causes problems with blood clotting, remain misdiagnosed and unreported despite the availability of methodologies for diagnosis and management. This is due to a lack of knowledge regarding genetic counseling and testing. Undiagnosed haemophilia in India leads to silent suffering with symptoms like joint bleeding and bruising.
Despite the availability of methodology to diagnose and manage haemophilia, about 60% of cases go undiagnosed and unreported due to a lack of awareness about genetic counseling and testing. In India, many patients with haemophilia suffer silently, as the disorder prevents blood from clotting properly, leading to severe bleeding.
The cause of haemophilia is the body’s failure to produce the necessary clotting factor, resulting in symptoms such as spontaneous bleeding into joints, bruising, and bleeding into muscles and soft tissues. If left untreated, this constant bleeding can lead to arthritis and permanent joint deformities, and in severe cases, death. Unfortunately, there is currently no cure for haemophilia.
Genetic counseling and testing are crucial in identifying carriers of the disorder, as women can pass on the gene to their children, causing males to be affected and females to become carriers. Screening tests like prothrombin time and activated partial thromboplastin time can help diagnose haemophilia, followed by factor assays for confirmation.
Genetic counseling plays a vital role in helping patients and their families understand the complexities of inherited bleeding disorders and make informed decisions about treatment options. By raising awareness about genetic testing and counseling, more cases of haemophilia can be diagnosed and managed effectively, reducing the silent suffering experienced by many patients in India.