What is Haemophilia: A Genetic Bleeding Disorder that has Affected 1,36,000 Indians

▴ A Genetic Bleeding Disorder that has Affected 1,36,000 Indians
The prevalence of haemophilia in India highlights the importance of raising awareness, improving access to treatment, and supporting affected individuals and families.

Haemophilia is a genetic bleeding disorder that affects millions of people worldwide. It is characterized by the inability of the blood to clot properly due to a deficiency in certain clotting factors. The two most common types of haemophilia are haemophilia A and haemophilia B, caused by deficiencies in clotting factor VIII and factor IX, respectively.

Symptoms of Haemophilia: The primary symptom of haemophilia is excessive bleeding, which can occur spontaneously or following injuries. Common signs of haemophilia include

- Prolonged bleeding from cuts or injuries
- Frequent bruising
- Nosebleeds that are difficult to stop
- Bleeding into joints, causing pain and swelling
- Blood in urine or stool
- Excessive bleeding after dental procedures or surgery

Precautions for Individuals with Haemophilia: Managing haemophilia requires certain precautions to prevent bleeding episodes and minimize complications:

1. Avoid Trauma: Individuals with haemophilia should take precautions to avoid injuries that can lead to bleeding. This includes wearing protective gear during physical activities and sports.

2. Regular Medical Care: Routine check-ups with a haematologist are essential to monitor clotting factor levels and overall health.


3. Medication Adherence: Patients may require regular infusion of clotting factor concentrates to prevent bleeding episodes. Adhering to prescribed treatment regimens is crucial.

4. Safe Practices: Use caution when using sharp objects such as razors and knives to minimize the risk of cuts and injuries.

Treatment and Management: While there is no cure for haemophilia, it can be managed effectively with appropriate treatment and care:

1. Clotting Factor Replacement: The mainstay of treatment involves replacing the deficient clotting factors through intravenous infusions. This helps restore normal clotting function and prevents bleeding episodes.

2. Desmopressin (DDAVP): Some individuals with mild haemophilia A can benefit from desmopressin, a medication that stimulates the release of clotting factor VIII.


3. Gene Therapy: Emerging therapies aim to correct the underlying genetic defect responsible for haemophilia, offering potential long-term benefits.

4. Joint Care: Preventing and managing joint bleeds is essential to preserve joint function. Physical therapy and joint protection techniques are recommended.


Testing for Haemophilia: Diagnosing haemophilia involves a series of tests to assess clotting function and determine the specific clotting factor deficiency:

1. Blood Tests: These include clotting factor assays to measure the levels of factor VIII and factor IX in the blood.

2. Genetic Testing: Genetic analysis can identify specific mutations responsible for haemophilia, providing valuable information for diagnosis and family planning.


Prevalence of Haemophilia in India: India has the second highest population of haemophilia patients globally, with an estimated 1,36,000 cases of haemophilia A alone. The prevalence of haemophilia in India highlights the importance of raising awareness, improving access to treatment, and supporting affected individuals and families.

Haemophilia is a complex genetic disorder characterized by impaired blood clotting, leading to excessive bleeding. While there is no cure for this condition, advancements in treatment have significantly improved outcomes for individuals with haemophilia. Early diagnosis, comprehensive care, and adherence to treatment regimens are essential for managing haemophilia effectively and improving quality of life for affected individuals. Continued research and awareness efforts are crucial to further enhance the care and support available to the haemophilia community in India and worldwide.

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About the Author


Sunny Parayan

Hey there! I'm Sunny, a passionate writer with a strong interest in the healthcare domain! When I'm not typing on my keyboard, I watch shows and listen to music. I hope that through my work, I can make a positive impact on people's lives by helping them live happier and healthier.

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