Haemophilia

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Introduction

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.

What is 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.

Types of Haemophilia

There are two main types of haemophilia, classified by which clotting factor is deficient:

  • Haemophilia A (Classical Haemophilia): This is the most common type, accounting for about 80-85% of all haemophilia cases. It occurs due to a deficiency or absence of clotting Factor VIII (Factor 8).
  • Haemophilia B (Christmas Disease): This type is less common, making up about 15-20% of cases. It's caused by a deficiency or absence of clotting Factor IX (Factor 9).

Causes of Haemophilia

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:

  • Males: If a male inherits an X chromosome with the mutated gene, he will have haemophilia because he doesn't have a second X chromosome to compensate.
  • Females: Females can be carriers of the haemophilia gene. If a female has one normal X chromosome and one X chromosome with the mutated gene, she usually won't have the severe symptoms of haemophilia because her normal X chromosome can produce enough clotting factor. However, she can pass the mutated gene on to her children. In rare cases, a female can have haemophilia if both of her X chromosomes have the mutated gene, or if one X chromosome has the mutation and the other X chromosome is missing or non-functional.

 

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.

Symptoms of Haemophilia

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:

  • Excessive bleeding from cuts or injuries: Bleeding that lasts longer than expected, even from minor scrapes.
  • Frequent and large bruises: Bruises that are unusually large, raised, or appear for no apparent reason.
  • Nosebleeds that are difficult to stop: Prolonged or recurrent nosebleeds.
  • Bleeding into joints (haemarthrosis): This is a hallmark symptom, leading to pain, swelling, warmth, and stiffness in joints (most commonly knees, elbows, and ankles). Repeated joint bleeds can cause permanent joint damage.
  • Bleeding into muscles (hematomas): Deep muscle bleeds can cause pain, swelling, and pressure on nerves.
  • Blood in urine (haematuria) or stools (melena): Indicates internal bleeding.
  • Unexplained heavy bleeding after dental procedures or surgery: Requires careful management by medical professionals.
  • In infants, unusual bleeding after circumcision: Can be an early indicator.

Diagnosis of Haemophilia

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:

  • Activated Partial Thromboplastin Time (aPTT): This test measures how long it takes for blood to clot and is usually prolonged in haemophilia.
  • Prothrombin Time (PT): This test assesses the extrinsic pathway of coagulation and is typically normal in haemophilia A and B.
  • Fibrinogen Test: Measures the amount of fibrinogen, a protein essential for blood clot formation.
  • Specific Clotting Factor Assays: These are the definitive tests that measure the levels of Factor VIII and Factor IX in the blood. These assays determine the specific type of haemophilia and its severity (mild, moderate, or severe).
  • Genetic Testing: Can identify the specific gene mutation, which is helpful for family planning and carrier identification.

Treatment of Haemophilia

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.

  • On-demand treatment: Administering factor concentrate when a bleed occurs.
  • Prophylaxis (preventive treatment): Regular, scheduled infusions of factor concentrate to prevent bleeding episodes. This is the preferred approach, especially for severe haemophilia, as it significantly reduces joint damage and improves quality of life.

 

Non-Factor Replacement Therapies: For some individuals, particularly those with inhibitors (antibodies that neutralise the infused factor), alternative therapies are available:

  • Bypassing agents: These medications (e.g., activated prothrombin complex concentrates or recombinant Factor VIIa) bypass the need for Factor VIII or IX and promote clotting.
  • Emicizumab: A newer, subcutaneous (under the skin) medication that mimics the function of Factor VIII, offering a convenient and effective prophylactic option.

 

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: TrenaxaPause) 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.

Risk Factors

  • Being male (for X-linked inheritance).
  • Family history of haemophilia.
  • Spontaneous genetic mutation (no family history).
  • Being a carrier female (for passing on the gene).

Complications

  • Joint damage and chronic arthritis from repeated bleeds.
  • Muscle damage and compartment syndrome from deep bleeds.
  • Development of inhibitors (antibodies to infused factor).
  • Life-threatening bleeding (e.g., intracranial haemorrhage).
  • Infections from blood product transfusions (historically, much less common now).
  • Psychological impact, including anxiety and depression.

Tips to Live with Haemophilia

  • Adhere to Your Treatment Plan: Consistency with factor replacement therapy (especially prophylaxis) is the most critical step in preventing bleeds and maintaining joint health.
  • Stay Active Safely: Regular, low-impact exercise (like swimming, cycling, or walking) strengthens muscles and joints, reducing the risk of bleeding. Discuss appropriate activities with your doctor and physiotherapist.
  • Educate Yourself and Others: Understanding your condition empowers you to make informed decisions and educate family, friends, and teachers. This helps them understand how to react in an emergency and support you.
  • Wear Medical Identification: Carry a medical alert bracelet or necklace stating you have haemophilia. This is vital in an emergency when you might be unable to communicate.
  • Build a Strong Healthcare Team: Work closely with a haemophilia treatment centre (HTC) that includes haematologists, nurses, physiotherapists, and social workers. This team approach provides comprehensive care.

Common Misconceptions About This Condition

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.

When to See a Doctor

It's crucial to seek medical attention promptly for any suspected bleeding episode. In particular, see a doctor immediately if you experience:

  • Severe pain or swelling in a joint or muscle.
  • Headaches accompanied by stiff neck, vomiting, or confusion (signs of potential head bleed).
  • Blood in urine or stools.
  • Unusual or prolonged bleeding from any site.
  • Any injury to the head, neck, or abdomen.
  • High fever with unexplained bleeding.

Questions to Ask Your Doctor

  • What is my specific type and severity of haemophilia?
  • What is my target factor level for prophylaxis, and how often should I infuse?
  • What are the signs of a serious bleed, and when should I seek emergency care?
  • Are there any clinical trials for new treatments I might be eligible for?
  • What are the potential side effects of my current treatment, and how can they be managed?
  • How can I best protect my joints and prevent long-term damage?
  • What resources (support groups, educational materials) are available for people with haemophilia and their families?

How to Support Someone Dealing with Haemophilia

  • Learn about haemophilia and its implications. Understanding the challenges helps you offer meaningful support.
  • Living with a chronic condition can be challenging. Offer emotional support and understanding, especially during bleeds or difficult times.
  • Remind and support them in following their treatment plan, including prophylaxis and appointments.
  • Know their emergency plan, including who to call, where their medication is stored, and the signs of a serious bleed.

Conclusion

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.

FAQs

Is haemophilia curable?

Currently, there is no widely available cure, but gene therapy holds significant promise for a potential long-term cure in the future.

Can females get haemophilia?

While rare, females can experience symptoms of haemophilia, typically milder, if their factor levels are low, or if both X chromosomes are affected.

Is haemophilia contagious?

No, haemophilia is a genetic disorder passed down through families; it cannot be caught from another person.

What's the difference between haemophilia A and B?

Haemophilia A is a deficiency of Factor VIII, while Haemophilia B is a deficiency of Factor IX.

Can diet affect haemophilia?

A balanced diet is important for overall health, but it does not directly impact the clotting factor deficiency in haemophilia.
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