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What is haemophilia?

12:00 AM Apr 17, 2024 IST | DR. ZUBAIR SALEEM

Haemophilia is a genetic disorder that affects the blood's ability to clot properly. People with haemophilia have deficient or absent clotting factors, which can lead to prolonged bleeding even from minor injuries.
Haemophilia primarily affects males and is usually diagnosed early in life, often during infancy or childhood. Females can be carriers of the haemophilia gene but are less likely to manifest symptoms. Symptoms may vary in severity and can become more apparent as individuals grow older.

Types of Haemophilia:
- Haemophilia A: This is the most common type, associated with low levels of factor VIII.
- Haemophilia B: The next most common type, linked to low levels of factor IX.
- Acquired Haemophilia: Some people develop haemophilia of the disorder. Although rare, some individuals can develop haemophilia later in life without a family history and most cases involve middle-aged or elderly people or young women who have recently given birth or are in the later stages of pregnancy.
What are the risk factors for haemophilia?
- The primary risk factor for haemophilia is inheriting the defective gene responsible for the condition. It is passed down from parents to children through an X-linked recessive pattern, meaning it is more common in males. However, in some cases, individuals may develop haemophilia due to spontaneous gene mutations.
What are the symptoms of haemophilia?
- Common symptoms of hemophilia include:
  - Prolonged bleeding from cuts or injuries
  - Easy bruising
  - Excessive bleeding following dental work or surgery
  - Joint pain and swelling, particularly in the knees, elbows, and ankles
  - Blood in the urine or stool
  - Frequent nosebleeds without apparent cause
- How is haemophilia diagnosed?
  - Haemophilia is typically diagnosed through a combination of medical history, physical examination, and blood tests to measure clotting factor levels. Genetic testing may also be performed to confirm the diagnosis and identify the specific type of haemophilia.
- Is haemophilia preventable?
  - Since haemophilia is a genetic disorder, it cannot be prevented. However, genetic counselling may be helpful for families with a history of haemophilia to understand the risk of passing the condition to future generations.
- How is haemophilia treated?
  - Treatment for haemophilia often involves replacing the deficient clotting factors through intravenous infusions of clotting factor concentrates. These infusions can help control bleeding episodes and prevent complications. Additionally, medications called desmopressin (DDAVP) may be used to stimulate the release of stored clotting factors in some cases.
- What are the potential complications of haemophilia?
  - Without proper treatment, haemophilia can lead to serious complications, including:
    - Joint damage and arthritis due to repeated bleeding into the joints
    - Intracranial haemorrhage (bleeding in the brain), which can be life-threatening
    - Anemia (low red blood cell count) from chronic bleeding
    - Development of inhibitors (antibodies) against clotting factor treatments, making them less effective
  - Can individuals with haemophilia lead normal lives?
    - With appropriate treatment and management, many individuals with haemophilia can lead relatively normal lives. However, they may need to take precautions to prevent injuries and bleeding episodes, such as avoiding contact sports and using protective gear when engaging in physical activities. Regular medical follow-ups and adherence to treatment plans are essential for maintaining optimal health and preventing complications.

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