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Haemophilia is a genetic bleeding disorder and hereditary disorder that affects the body’s ability to form blood clots due to a deficiency of Factor VIII or IX, where it mainly affects males and is usually inherited, although spontaneous mutations can also occur. In other words, haemophilia is a genetic disorder caused by the absence or deficiency of blood clotting factors, mainly Factor VIII or IX, and the condition causes prolonged bleeding, often spontaneously or following injuries.
Understanding haemophilia: a genetic disorder that affects blood clotting
In an interview with HT Lifestyle, Dr Chandrakant Lahane, haematologist at Sahyadri Super Speciality Hospital, Hadapsar, explained, “Haemophilia is caused by mutations in the genes responsible for the production of clotting factors in our body, which are located on the X chromosome, making it an X-linked recessive disorder. There are two main types: haemophilia A, caused by a deficiency of clotting factor VIII, is the most common type, affecting around 1 in 5,000 males, and haemophilia B, caused by a deficiency of clotting factor IX, affecting around 1 in 25,000 males. In some cases, haemophilia is caused by a new genetic mutation in the affected individual even when there is no family history of the disorder.”
Sharing her expertise, Dr Vasudha N Rao, Consultant Paediatric Oncologist at Rainbow Children’s Hospital, Marathahalli, elaborated, “The root cause is a mutation in the F8 or F9 gene, which can be inherited or spontaneous. Treatment for haemophilia mainly involves regular infusions of the missing clotting factor, known as factor replacement therapy. Additionally, advances in gene therapy hold the possibility of curing the disease by correcting the faulty gene.”
Management of hemophilia: essential care and emerging therapies
Dr. Chandrakant Lahane explained, “Treatment of hemophilia is primarily focused on preventing and managing bleeding events. The central approach involves replacing the missing clotting factors through intravenous infusion of factor VIII or IX concentrates. These concentrates can be derived from human blood (plasma-derived) or manufactured using recombinant DNA technology. For severe cases, regular infusions, known as prophylactic therapy, are administered to prevent bleeding events. Recent advances have introduced factor products with extended half-lives, allowing patients to receive less frequent infusions while maintaining effective clotting factor levels. Non-factor therapies, such as emicizumab (Hemlibra), offer alternatives to traditional therapies. Emicizumab is a monoclonal antibody that mimics the function of factor VIII, providing effective prophylaxis with weekly or less frequent subcutaneous administration.”
An exciting and promising development in the treatment of haemophilia is gene therapy. Dr Chandrakant Lahane explains, “This approach aims to provide a long-term solution by introducing functional copies of the defective gene into the patient’s cells. Using adeno-associated virus (AAV) vectors, the correct version of the clotting factor gene is delivered to liver cells, which then produce the required clotting factor. Early clinical trials have shown a significant reduction in bleeding events and the need for factor replacement therapy. For people with mild haemophilia A, desmopressin (DDAVP) can be used to stimulate the release of stored factor VIII from the blood vessel lining. It is administered either intravenously or intramuscularly. Additionally, antifibrinolytic agents such as tranexamic acid or aminocaproic acid help prevent the breakdown of blood clots and are useful during dental procedures or minor surgeries.”
Dr. Chandrakant Lahane added that supportive care and lifestyle changes are also important in the management of hemophilia. He said, “Physical therapy is very important to maintain joint health and prevent musculoskeletal complications. Education plays a vital role, as patients and their families must learn to recognize and manage bleeding events, manage factor concentrations, and maintain a safe lifestyle to reduce the risk of injury. There is ongoing research focused on developing new clotting factors with improved stability and longer half-life, exploring gene editing technologies such as CRISPR/Cas9 to directly correct genetic mutations, and investigating oral therapies for more convenient treatment options. Treatment of hemophilia has made significant progress, giving patients several effective options to control and prevent bleeding events. With ongoing advances in gene therapy, innovative therapeutic agents, and comprehensive supportive care, there is hope for improving quality of life for people with hemophilia, moving toward potential long-term cures and more convenient treatment modalities.”
Dr. Vasudha N Rao concludes, “Understanding hemophilia begins with recognizing its genetic origins. Early diagnosis and consistent factor replacement therapy are crucial to effectively manage this condition. For parents, it is important to educate themselves about this disorder, have regular follow-ups with healthcare providers, and create a safe environment to prevent injuries. Despite a popular myth, there are no risks to hemophilia vaccination. Additionally, regular dental health checkups, bone and joint evaluations, and appropriate medical interventions for conditions associated with puberty are essential for comprehensive care.”
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