Haemophilia is caused by a genetic defect that affects the body's ability to make certain proteins called clotting factors. These clotting factors are needed for normal blood clotting

Haemophiloa Disease is one of the most important topics for the UPSC IAS exam. It covers a significant part of the Science and technology subject in the General Studies Paper-3 syllabus. Register for affordable UPSC online classes on the coaching platform to further improve your IAS preparation.

Definition of Haemophilia 

Haemophilia is a hereditary condition characterized by an inability to produce normal blood clots. This lack of clotting factors renders individuals with haemophilia unable to coagulate blood properly. As a result, even minor wounds, bruises or impacts can result in prolonged or excessive bleeding that is difficult to stop.

In keeping with the world Federation of Haemophilia’s Annual global Survey 2017, there were over 1.96 lakh persons living with haemophilia across the world in 2017.India emerges with the highest count at almost 19,000.It is estimated that 80% cases cross unregistered, so that the real depend is close to 2 lakh.

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Types of Haemophilia

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Symptoms of Haemophilia Disease

Early recognition of haemophilia symptoms is crucial for timely diagnosis and management. Some common signs of haemophilia include:

• Excessive Bleeding: Individuals with haemophilia may experience prolonged bleeding after minor injuries, dental procedures, or surgeries. They may also bleed for a longer duration than usual.
• Easy Bruising: Bruising easily, even from minor bumps or injuries, is another characteristic symptom of haemophilia. The bruises may be large, painful, and take longer to heal.
• Joint Pain and Swelling: Repeated bleeding into the joints, particularly the knees, elbows, and ankles, can lead to pain, swelling, stiffness, and limited mobility. This condition is known as haemophilic arthropathy.
• Spontaneous Bleeding: In severe cases, spontaneous bleeding can occur without any apparent cause. This internal bleeding may manifest as abdominal pain, blood in urine or stool, or prolonged nosebleeds.

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Causes of Haemophilia Disease

• Haemophilia is caused by a genetic mutation in the genes responsible for producing clotting factors.
• The most common types of haemophilia, A and B, are caused by mutations in the genes for factor VIII and factor IX, respectively.
• These mutations lead to a deficiency or absence of the specific clotting factor in the blood.
•  Haemophilia is an inherited condition, which means it is passed down from parents to their children through their genes.
• The defective gene is carried on the X chromosome, making haemophilia more common in males.
• Females can be carriers of the haemophilia gene and pass it on to their children, even if they don't experience symptoms themselves.
• Rarely, haemophilia can occur due to spontaneous genetic mutations, without a family history of the condition.
• It's important to note that haemophilia is not caused by any specific actions or lifestyle choices, but rather by genetic factors.

Treatment of Haemophilia Disease

• Factor replacement therapy: Missing clotting factors are replaced through intravenous infusions.
• Gene therapy: Emerging treatment option that aims to correct the faulty gene responsible for haemophilia.
• Regular monitoring: Close monitoring of clotting factor levels and overall health.
• Physical therapy: Helps manage joint pain and improve mobility.
• Medications: Certain medications may be prescribed to control bleeding or prevent complications.
• Protective measures: Taking precautions to avoid injuries and minimize the risk of bleeding.
• Education and support: Learning about haemophilia management, joining support groups, and accessing resources for emotional and practical support.
• Comprehensive care: Collaborating with a multidisciplinary team of healthcare professionals for personalized treatment plans.

World Haemophilia Day

World Haemophilia Day is observed annually on April 17th to raise awareness about haemophilia and other bleeding disorders. It serves as an opportunity to promote better diagnosis, treatment, and care for individuals living with haemophilia worldwide. This day also aims to educate the general public and healthcare professionals about the challenges faced by people with haemophilia and the importance of accessible treatment options.

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Importance of World Haemophilia Day

• Promoting global awareness: World Haemophilia Day helps shed light on the condition, reducing stigma and misconceptions surrounding haemophilia.
• Advocating for better care: It serves as a platform to advocate for improved access to treatment, therapies, and comprehensive care services for individuals with haemophilia.
• Strengthening the community: World Haemophilia Day brings together patients, families, healthcare providers, and organizations to share experiences, knowledge, and support.

Conclusion

Haemophilia is a complex genetic disorder that requires careful management and understanding. By recognizing the symptoms and raising awareness through initiatives like World Haemophilia Day, we can ensure better care for individuals living with haemophilia. It is essential to promote research, education, and support systems to improve the quality of life for those affected by this condition. UPSC aspirants can benefit from gaining knowledge about haemophilia as it helps in understanding broader health-related topics and demonstrates a well-rounded understanding of public health issues.

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