HYDERABAD: Haemophilia, a genetic disorder affects approximately 4,00,000 people worldwide, with an estimated 20,000 haemophilic individuals in India. Sadly, around 75 percent of patients globally are not receiving adequate treatment due to limited access or resources. As we approach April 17, observed as World Haemophilia Day, we delve into the significance of this day and aim to understand more about the disorder with insights provided by experts.
In honour of Frank Schnabel’s birthday, the founder of the World Federation of Haemophilia (WFH) established in 1963, April 17 marks World Haemophilia Day. It serves as a day of advocacy for the haemophilia community, striving for improved treatment and care for those affected, and fostering awareness about the challenges they encounter.
Haemophilia stems from a hereditary deficiency or absence of specific clotting factors in the blood. The two primary types are Haemophilia A, resulting from a deficiency of factor VIII, and Haemophilia B, from a deficiency of factor IX. These deficiencies, often inherited through a mutated gene on the X chromosome, lead to impaired blood clotting, resulting in excessive bleeding, even from minor injuries.
Dr Ganesh Jaishetwar, Senior Consultant Haematologist, Haemato-Oncologist & Bone Marrow Transplant Physician at Yashoda Hospitals, outlines common symptoms of haemophilia, which can vary based on severity. These include excessive bleeding from cuts, easy bruising, joint pain and swelling—particularly in weight-bearing joints like knees and ankles—blood in urine or stool, difficult-to-stop nosebleeds, and bleeding into muscles or soft tissues causing swelling and pain. These symptoms range from mild to severe, often necessitating medical intervention, especially in cases of significant bleeding.
Severe cases of haemophilia usually are diagnosed within the first year of life. Mild forms might not be apparent until adulthood. Dr Sandeep Reddy Koppula, HOD-Internal Medicine, Arete Hospitals said, “Some people learn they have haemophilia after they bleed excessively during a surgical procedure. Clotting-factor tests can reveal a clotting-factor deficiency and determine how severe the haemophilia is. For people with a family history of haemophilia, genetic testing might be used to identify carriers to make informed decisions about becoming pregnant. It’s also possible to determine during pregnancy if the fetus is affected by haemophilia. However, the testing poses some risks to the fetus. Discuss the benefits and risks of testing with your doctor.”
Treatment for haemophilia involves various innovative medications and therapies. Beyond simply replacing absent factors, research focuses on halting bleeding through non-replacement therapy, factor replacement therapy, and gene therapy. Dr Sandeep Reddy highlights the milestone of haemophilia becoming a treatable disorder with specific plans. Ongoing advancements, particularly in gene therapy, offer promising prospects for improved patient outcomes.
The main treatment for severe haemophilia involves replacing the deficient clotting factor through intravenous infusion. This replacement therapy can address ongoing bleeding episodes or be administered preventatively to reduce their occurrence. Clotting factors can be sourced from donated blood or manufactured recombinantly in laboratories, minimising reliance on human blood products.
“Preventive measures for haemophilia aim to reduce bleeding episodes and manage the condition effectively. These include regular medical care, injury prevention, healthy lifestyle, safe practices, education, and emotional support. Additionally, maintaining a balanced diet is crucial, focusing on nutrient-rich foods, moderate iron intake, vitamin K-rich foods, hydration, and moderation of certain foods. Individualised nutrition plans, developed with healthcare providers, are essential. Overall, these measures help individuals with haemophilia better manage their condition and improve overall health and well-being,” concludes Dr Ganesh Jaishetwar.