Haemophilia

Context: Poor diagnosis of haemophilia and lack of accessible prophylaxis treatment in India, despite the high global burden of disease, remains a cause of concern for experts.

UPSC Relevance:

Prelims , UPSC has been asking common disease and treatment therapies in Prelims.

PYQ: 

Prelims 2021

 In the context of hereditary diseases, consider the following statements: 

1. Passing on mitochondrial diseases from parent to child can be prevented by mitochondrial replacement therapy either before or after in vitro fertilization of the egg. 

2. A child inherits mitochondrial diseases entirely from mother and not from father. 

Which of the statements given above is/are correct? 

a) 1 only 

b) 2 only 

c) Both 1 and 2 

d) Neither 1 nor 2

Prelims 2014

Consider the following diseases:

1. Diphtheria

2. Chickenpox

3. Smallpox

Which of the above diseases has/have been eradicated in India?

a) 1 and 2 only

b) 3 only

c) 1, 2 and 3

d) None

What Is Haemophilia?

• It is an inherited, rare bleeding disorder where blood doesn’t clot properly.
• Cause: A lack or deficiency of clotting factors, which are proteins essential for blood to clot,  most often Factor VIII.
• Haemophilia is more common in males because it is an X-linked recessive disorder. Males have one X chromosome and one Y chromosome, so if their single X chromosome carries the gene for haemophilia, they will develop the disorder. Females are typically only carriers because they can have one normal X chromosome to compensate for the affected X chromosome. 
• Types of Haemophilia
  • Haemophilia A: This is the most common type, also known as classic Haemophilia. It results from a deficiency of clotting Factor VIII in the blood.
  • Haemophilia B: Also called Christmas Disease (named after the first patient diagnosed with it, Stephen Christmas), this type is caused by a lack of clotting Factor IX.
  • Haemophilia C: This very rare form of Haemophilia is due to a deficiency in clotting Factor XI. 
• Symptoms: Excessive bleeding from small injuries and, more seriously, spontaneous internal bleeding in joints, muscles, or even the brain.
• Complications: Can cause chronic pain, permanent disability, and can be life-threatening.
• Haemophilia gained the nickname “Royal Disease” due to its widespread appearance in the royal families of Europe during the 19th and 20th centuries. 
• According to a global survey conducted by the World Federation for Haemophilia, India has the second-highest load of patients with Haemophilia A in the world, and is the only developing country amongst the top five countries.

The Challenge of Diagnosis and Treatment in India

• Undiagnosed Cases: Only about 29,000 of an estimated 1-1.5 lakh patients have been diagnosed in India. Almost 80% of patients remain undiagnosed in India.
• Reasons for Low Diagnosis: Lack of awareness, limited diagnostic facilities, and socio-economic barriers.
• Impact of Undiagnosed Cases: Puts patients at risk for bleeds, leading to disability and a reduced life expectancy.
• Socio-economic Burden: Undiagnosed and untreated Haemophilia leads to school absenteeism, unemployment, and loss of productivity.

Prophylaxis: The Gold Standard of Care

• It is a regular replacement therapy of the deficient clotting factors to prevent bleeds before they occur.The ultimate goal is to achieve “zero bleeds,” allowing patients to live a more active and independent life.
• Methods: Frequent intravenous injections of clotting factors or newer non-factor products via subcutaneous injections.
• Benefits Over On-Demand Therapy:

• Prevents Joint Damage: Maintains clotting factor levels to reduce or eliminate joint bleeds, preserving mobility and limiting disability.
• Enhances Quality of Life: Patients have fewer bleeds and less pain, enabling them to attend school and work more consistently.
• Reduces Healthcare Burden: Decreases the need for urgent care and hospitalization, reducing long-term healthcare costs.
• Global vs. Indian Context:

India: On-demand therapy is still the primary treatment, though some states have begun to offer regular replacement for children.

Developed Nations: Approximately 90% of Haemophilia patients are on prophylaxis, leading to a near-normal life expectancy.