Haemophilia:

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GS 3 – disease 

• Haemophilia is a genetic disorder in which the blood does not clot properly due to the absence or deficiency of specific clotting factors. It leads to prolonged bleeding after injuries, surgeries, or even spontaneously.

Types of Haemophilia

1. Haemophilia A:
   • Caused by a deficiency of Factor VIII.
   • Most common type (about 80% of cases).
2. Haemophilia B (Christmas Disease):
   • Caused by a deficiency of Factor IX.
   • Less common than Haemophilia A.
3. Haemophilia C:
   • Caused by a deficiency of Factor XI.
   • Rare and typically less severe.

Genetics of Haemophilia

1. Inheritance Pattern:
   • X-linked recessive disorder.
   • Primarily affects males, as they have only one X chromosome.
   • Females are typically carriers; they rarely show symptoms unless they have both affected X chromosomes.
2. Carriers:
   • Female carriers can pass the defective gene to 50% of their sons (who may have the disease) and 50% of their daughters (who may become carriers).

Symptoms

1. Prolonged Bleeding:
   • After injuries or surgeries.
2. Spontaneous Bleeding:
   • In joints, muscles, or soft tissues.
3. Joint Pain and Swelling:
   • Due to internal bleeding in joints.
4. Easy Bruising:
   • Even from minor trauma.
5. Excessive Bleeding after Dental Procedures.

Diagnosis

1. Clotting Factor Tests:
   • To measure the levels of clotting factors VIII or IX.
2. Genetic Testing:
   • Identifies mutations in the F8 or F9 genes.
3. Family History:
   • Plays a key role in identifying at-risk individuals.

Treatment

1. Replacement Therapy:
   • Regular infusions of clotting factors VIII or IX.
2. Desmopressin (DDAVP):
   • Stimulates the release of stored Factor VIII in mild cases.
3. Antifibrinolytics:
   • Help prevent the breakdown of blood clots.
4. Gene Therapy:
   • Emerging treatment to correct defective genes.
5. Physical Therapy:
   • To manage joint damage caused by repeated bleeding.

Complications

1. Joint Damage (Haemophilic Arthropathy):
   • From repeated bleeding into joints.
2. Internal Bleeding:
   • Life-threatening if it occurs in critical organs like the brain.
3. Inhibitors:
   • Some patients develop antibodies against infused clotting factors.

Haemophilia in India

1. Prevalence:
   • Estimated to affect about 1 in 5,000 male births.
   • Over 1.2 lakh patients in India, with many undiagnosed due to lack of awareness.
2. Challenges:
   • High cost of treatment.
   • Limited availability of clotting factors.
   • Low awareness and diagnostic facilities in rural areas.

Recent Advances

1. Gene Therapy:
   • Promises long-term solutions by correcting the genetic defect.
2. Extended Half-Life Clotting Factors:
   • Reduce the frequency of infusions.
3. Non-Replacement Therapies:
   • Drugs like Emicizumab mimic the action of Factor VIII.

Government Initiatives

1. National Policy for Treatment of Rare Diseases (2021):
   • Includes haemophilia under rare diseases, offering financial support for treatment.
2. Rashtriya Bal Swasthya Karyakram (RBSK):
   • Focuses on the early identification of genetic disorders in children.