Imagine a world where a simple cut could become a serious ordeal, or a fall could lead to life-threatening internal bleeding. For individuals living with haemophilia, this is often their reality. Haemophilia is a rare, inherited bleeding disorder that prevents blood from clotting properly. It's a condition that has shaped lives for centuries, often misunderstood and feared. However, with advancements in medical science and a growing understanding, those with haemophilia can now lead fulfilling and active lives. This page aims to shed light on this complex condition, offering a comprehensive guide to understanding, managing, and living with haemophilia.
Haemophilia is a lifelong genetic disorder where a person's blood doesn't clot as it should. This happens because they either lack or have low levels of certain proteins called clotting factors. When someone without haemophilia gets a cut or bruise, their body uses these clotting factors to form a plug, stopping the bleeding. In someone with haemophilia, this plug either doesn't form at all or isn't strong enough, leading to prolonged bleeding both externally and internally. It's not contagious; you can't "catch" haemophilia from someone else. It's a condition you are born with, passed down through families.
There are two main types of haemophilia, classified by which clotting factor is deficient:
Haemophilia is almost always an inherited genetic disorder. It's caused by a mutation, or a change, in the genes that provide instructions for making the clotting factor proteins. These genes are located on the X chromosome.
Since males have one X and one Y chromosome, and females have two X chromosomes, the inheritance pattern of haemophilia is quite specific:
In approximately one-third of cases, haemophilia occurs due to a new, spontaneous genetic mutation, meaning there is no prior family history of the condition.
The severity of haemophilia symptoms depends on the amount of clotting factor present in the blood. Individuals with very low levels experience severe bleeding, while those with higher levels have milder symptoms. Common symptoms include:
Diagnosing haemophilia typically involves a combination of medical history, physical examination, and blood tests.
Medical History: The doctor will ask about personal and family bleeding episodes.
Physical Examination: A physical examination might reveal signs of recent or past bleeding, such as bruising or joint swelling.
Blood Tests: These are crucial for confirming the diagnosis and determining the type and severity of haemophilia. Key blood tests include:
The primary goal of haemophilia treatment is to prevent bleeding episodes and manage them when they occur. The cornerstone of treatment involves replacing the deficient clotting factor.
Factor Replacement Therapy: This is the most common and effective treatment. Concentrates of Factor VIII or Factor IX, derived from human plasma or produced synthetically (recombinant factors), are infused intravenously.
Non-Factor Replacement Therapies: For some individuals, particularly those with inhibitors (antibodies that neutralise the infused factor), alternative therapies are available:
Desmopressin (DDAVP): For mild haemophilia A, DDAVP can be used. It's a synthetic hormone that stimulates the release of stored Factor VIII and von Willebrand factor from the body's cells. It's not effective for haemophilia B or severe haemophilia A.
Antifibrinolytic Medicines: Medications like tranexamic acid (Brands: Trenaxa, Pause) help stabilise blood clots once they have formed and are often used for mouth bleeds or after dental procedures.
Pain Management: For joint bleeds, pain relief is crucial. Over-the-counter pain relievers like paracetamol (acetaminophen) are often used, avoiding aspirin and NSAIDs due to their antiplatelet effects.
Physiotherapy: Essential for managing joint bleeds and maintaining joint health. It helps restore range of motion, strengthen muscles, and prevent long-term joint damage.
Gene Therapy: A revolutionary and promising area of research. Gene therapy aims to introduce a healthy copy of the clotting factor gene into the patient's cells, potentially leading to a long-term cure. While still largely in clinical trials, early results are very encouraging.
Myth: People with haemophilia bleed to death from a small cut.
Reality: While bleeding is prolonged, external cuts usually aren't life-threatening. The main danger comes from internal bleeding, especially into joints, muscles, or the brain.
Myth: Haemophilia only affects males.
Reality: While males are predominantly affected due to the X-linked inheritance pattern, females can be carriers and, in rare cases, can also have mild to moderate symptoms of haemophilia if they have very low factor levels.
Myth: People with haemophilia can't participate in sports or have a normal life.
Reality: With modern treatment, especially prophylaxis, individuals with haemophilia can lead active, fulfilling lives, including participating in many sports, with appropriate precautions and medical guidance.
It's crucial to seek medical attention promptly for any suspected bleeding episode. In particular, see a doctor immediately if you experience:
Haemophilia, though a lifelong condition, is no longer the debilitating disorder it once was. Thanks to remarkable advancements in treatment, particularly factor replacement therapy and emerging gene therapies, individuals with haemophilia can now look forward to longer, healthier, and more active lives. Education, proactive management, and a strong support system are key to navigating the challenges and embracing the possibilities. While vigilance remains essential, the future for those with haemophilia is brighter than ever, promising a life where their condition does not define their potential.