Haemophilia: A comprehensive guide to understanding the causes, treatments and expert tips on care and prevention
Haemophilia is a genetic bleeding disorder and hereditary disorder that affects the ability of the body to form blood clots because of deficiency of factor VIII or IX where it primarily affects males and is usually inherited, though spontaneous mutations can also occur. In other words, Haemophilia is a genetic disorder caused by the absence or deficiency of clotting factors in the blood, primarily factor VIII or IX and this condition leads to prolonged bleeding episodes, often spontaneously or after injuries.
Understanding Haemophilia: Genetic Disorder Affecting Blood Clotting
In an interview with HT Lifestyle, Dr Chandrakant Lahane,
Haematologist at Sahyadri Super Speciality Hospital in Hadapsar, explained,
“Haemophilia is caused by mutations in the genes responsible for producing
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
about 1 in 5,000 male births and Haemophilia B, caused by a deficiency of
clotting factor IX, affecting about 1 in 25,000 male births. In some cases,
haemophilia occurs due to new genetic mutations in the affected individual with
no family history of the disorder.”
Bringing his expertise to the same, Dr Vasudha N Rao, Consultant
Pediatric Oncologist at Rainbow Children's Hospital in Marathahalli,
elaborated, “The root cause is a mutation in the F8 or F9 gene, which can be
inherited or occur spontaneously. Treatment for haemophilia primarily involves
regular infusions of the missing clotting factors, known as factor replacement
therapy. Additionally, advancements in gene therapy hold promise for
potentially curing the disease by correcting the defective gene.”
Managing Haemophilia: Essential Care and Emerging Therapies
Dr Chandrakant Lahane shared, “Treating haemophilia primarily
focuses on preventing and managing bleeding episodes. The central approach
involves replacing the missing clotting factors through intravenous infusions
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 episodes. Recent advancements have introduced
factor products with extended half-lives, allowing patients to receive
infusions less frequently while maintaining effective clotting factor levels.
Non-factor therapies, such as Emicizumab (Hemlibra), provide alternatives to
traditional treatments. Emicizumab is a monoclonal antibody that mimics the
function of factor VIII, offering effective prophylaxis with weekly or less
frequent subcutaneous administration.”
An exciting and promising development in hemophilia treatment is gene therapy. Dr Chandrakant Lahane revealed, “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 necessary clotting factor. Early clinical trials have shown significant reductions in bleeding episodes and the need for factor replacement therapy. For those with mild hemophilia A, desmopressin (DDAVP) can be used to stimulate the release of stored factor VIII from blood vessel linings. It is administered either intravenously or intranasally. Additionally, antifibrinolytic agents like tranexamic acid or aminocaproic acid help prevent the breakdown of blood clots and are useful during dental procedures or minor surgeries.”
Asserting that supportive care and lifestyle adjustments are also crucial in managing hemophilia, Dr Chandrakant Lahane said, “Physical therapy is vital for maintaining joint health and preventing musculoskeletal complications. Education plays a significant role, as patients and their families need to learn how to recognize and manage bleeding episodes, administer factor concentrates, and maintain a safe lifestyle to minimize injury risks. There is research is going on which is focused on developing novel clotting factors with enhanced stability and longer half-lives, exploring gene editing techniques such as CRISPR/Cas9 to correct genetic mutations directly, and investigating oral therapies for more convenient treatment options. The treatment of hemophilia has made significant strides, offering patients various effective options to control and prevent bleeding episodes. With ongoing advancements in gene therapy, innovative therapeutic agents, and comprehensive supportive care, there is hope for improved quality of life for those with hemophilia, moving towards potential long-term cures and more convenient treatment modalities.”
Dr Vasudha N Rao concluded, “Understanding haemophilia starts with recognizing its genetic origins. Early diagnosis and consistent factor replacement therapy are crucial in managing the condition effectively. For parents, it's important to educate themselves about the disorder, maintain regular follow-ups with healthcare providers and create a safe environment to prevent injuries. Despite a popular myth, haemophilia poses no risk to vaccinations. Additionally, regular dental health check-ups, bone and joint evaluations, and suitable medical interventions for puberty-associated conditions are essential for comprehensive care.”
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