Haemophilia

Haemophilia is a rare genetic disorder that affects the blood's ability to clot, leading to prolonged bleeding. It is usually inherited from one's parents and is more common in males.

What is Haemophilia?

Haemophilia is caused by a deficiency or mutation of one of the genes that code for blood clotting factors, specifically factor VIII (8) or factor IX (9). This results in the production of abnormal or insufficient amounts of these clotting factors, making it difficult for the blood to form clots and stop bleeding.

Types of Haemophilia

There are two main types of haemophilia:

• Haemophilia A (Classic Haemophilia): This is the most common type, accounting for about 80% of cases. It is caused by a deficiency or mutation of the gene that codes for factor VIII.
• Haemophilia B (Christmas Disease): This type is less common and is caused by a deficiency or mutation of the gene that codes for factor IX.

Symptoms of Haemophilia

The symptoms of haemophilia can vary in severity, depending on the level of clotting factor deficiency. Common symptoms include:

• Prolonged bleeding: Bleeding that lasts for an extended period, often after injury or surgery.
• Easy bruising: Bruises that appear easily and without apparent cause.
• Joint pain and swelling: Repeated bleeding into joints can cause pain, swelling, and stiffness.
• Muscle weakness: Bleeding into muscles can cause weakness and pain.
• Nosebleeds: Frequent or prolonged nosebleeds.
• Gastrointestinal bleeding: Bleeding in the digestive tract, which can cause vomiting blood or black stools.

Treatments for Haemophilia

The primary treatment for haemophilia is replacement therapy, which involves administering clotting factors to replace the deficient or abnormal factors. This can be done:

• On-demand: Clotting factors are administered as needed to treat bleeding episodes.
• Prophylactically: Regular infusions of clotting factors are given to prevent bleeding episodes.

In addition to replacement therapy, other treatments may include:

• Desmopressin (DDAVP): A medication that stimulates the release of factor VIII and von Willebrand factor from storage sites into the bloodstream.
• Antifibrinolytics: Medications that help prevent the breakdown of blood clots, such as tranexamic acid or aminocaproic acid.
• Pain management: Medications to manage pain and discomfort associated with bleeding episodes.
• Physical therapy: To maintain joint mobility and strength.
• Surgery: In some cases, surgery may be necessary to repair damaged joints or other tissues.

Complications of Haemophilia

If left untreated or undertreated, haemophilia can lead to several complications, including:

• Joint damage: Repeated bleeding into joints can cause chronic pain and disability.
• Muscle atrophy: Weakness and wasting of muscles due to repeated bleeding.
• Infections: Increased risk of infections, particularly with hepatitis and HIV, due to exposure to contaminated blood products.
• Inhibitor development: The formation of antibodies against clotting factors, which can make treatment more challenging.

Lifestyle Modifications for Haemophilia

To manage haemophilia and prevent complications, individuals with the condition should:

• Avoid contact sports: Activities that increase the risk of injury and bleeding.
• Use protective gear: Wear helmets, knee pads, and other protective equipment to prevent injuries.
• Maintain a healthy weight: Excess weight can put additional stress on joints.
• Stay hydrated: Drink plenty of water to help prevent dehydration and promote blood flow.
• Avoid certain medications: Such as aspirin and ibuprofen, which can increase the risk of bleeding.

Frequently Asked Questions (FAQs)

What is Haemophilia?
A genetic disorder that impairs blood clotting.

What are the types of Haemophilia?
Haemophilia A and Haemophilia B.

What causes Haemophilia?
Deficiency of clotting factor VIII or IX.

How is Haemophilia inherited?
X-linked recessive pattern.

What are the symptoms of Haemophilia?
Prolonged bleeding, bruising, and joint pain.

How is Haemophilia diagnosed?
Blood tests to measure clotting factor levels.

Can Haemophilia be cured?
No, but symptoms can be managed.

What is the treatment for Haemophilia?
Replacement therapy with clotting factors.

Can people with Haemophilia lead normal lives?
Yes, with proper management and care.

Is Haemophilia a rare condition?
Yes, affecting about 1 in 10,000 males.