Haemophilia is a disorder characterized by uncontrolled bleeding and inability of the blood to clot properly. Even a small cut or a minor injury can result in severe bleeding. Haemophilia is one among the many X-linked recessive inherited genetic disorders, where the gene causing the disorder or dysfunction is located on the X-chromosome.

Body:

It results in massive internal bleeding (known as haemorrhaging) in the joints such as the knees, elbows, ankles, and also in the tissues and muscles. This can lead to considerable consequences, such as swelling and pain in the affected areas. It can even cause permanent damage to the affected body parts. When bleeding happens in a vital organ, especially in the brain, it has the potential to turn fatal.

Haemophilia in India:

• Haemophilia A, occurs in about 1 in 5,000 births, while Haemophilia B is even rarer at about 1 in about 20,000 births.
• According to the World Federation of Haemophilia’s Annual Global Survey 2017, with nearly two lakh cases, India is estimated to have the second highest number of haemophilia patients in the world.

Reasons for high incidence of Haemophilia in India:

• The disorder can be acquired sometimes because of a spontaneous genetic mutation. It is estimated that about one-third of new cases are caused by a new mutation of the gene in the mother or the child.
• Haemophilia tends to affect men more than women as the gene can be passed from mother to son. It is estimated that 1 in every 5,000 males is born with this condition.
• There is an erratic supply of medicines (for blood clotting factors 8 and 9) which are required for treatment.
• Given the low volumes at which the drugs needed to treat such diseases would be consumed, pharmaceutical companies have little commercial incentive to produce them.
• High cost of treatment owing to the unavailability of free services with the Haemophilia Society of India (HSI) and government hospitals also contribute to the lack of treatment options.
• Unavailability of haematologists in the state
• A lack of effective alternate treatment.
• Lack of awareness especially among rural and tribal people about the blood disorder result in patients remaining unregistered.

Measures to tackle the issue:

• Currently, there’s no known cure for haemophilia, however, treatment can help a person with the condition enjoy a good quality of life.
• Though factor replacement therapy is the treatment of haemophilia there may be complications. Earlier the risk was viral infection- like hepatitis B and C or HIV. However with better purification and safety measures this has reduced in plasma derived factor and is not present in recombinant factor.
• Antifibrinolytic medicines (such as tranexamic acid and epsilon aminocaproic acid) may be used along with replacement therapy. They can be used alone for minor bleeds especially mouth bleeds.
• State has responsibility for providing affordable, accessible and reliable health-care services to every citizen. In fact constitution also mentions importance of health-care services under articles like 21, 38 and 47 and thus state cannot evade this responsibility under the pretext of non-justifiability of articles.
• A nationwide policy on orphan drugs could incentivize Pharma companies.
• Blood testing centres at PHCs and Secondary Health centres can help diagnose the disorder at the earliest and take necessary care.
• Genetic counselling of the families having history of haemophilia can help prevent further occurrences in offsprings.
• Gene therapy: Researchers are trying to find ways to correct the defect in the genes that cause haemophilia. Gene therapy has not yet developed to the point that it’s an accepted treatment for haemophilia. However, researchers continue to test gene therapy in clinical trials for haemophilia B
• Precautions: Avoid injury as much as possible, children should be watched for falls, avoid intramuscular injections. Most children’s vaccines can be given in the skin with a thin needle
• Strong muscles may help to protect the joint, so physical therapy is part of treatment for haemophilia. The benefit of physical therapy may not be immediate, it is important for long term mobility.

Conclusion:

There is a major lack of awareness of haemophilia in India. It is important that parents get timely information about this lifelong disorder so that they can get the best help for their children and handle their lives in a better way when they are well aware of the condition, including the impact of disease on the lives of individuals.