Haemophilia: India needs more awareness, low treatment costs

Shruti Saxena

Started in 1989, World Haemophilia Day is observed each year on April 17 to raise awareness and also to raise funds for the bleeding disorder.

Haemophilia is a congenital lifelong bleeding disorder that prevents the blood from clotting properly, leading to internal bleeding; mostly in the joints, muscles and vital organs like the brain. In many cases, the disease leads to permanent disability.

Major Types

There are two major types of haemophilia, labelled type A and type B. Haemophilia A occurs in about 1 out of every 5000 live male births. Whereas Haemoplilia B occurs in about 1 out of 20-34,000 live male births.

Males more at risk

It is more likely to occur in males than females. Though females are almost exclusively asymptomatic carriers, the disorder can be inherited in case either of the parent has the defective genes.

Haemophilia lowers blood plasma clotting factor levels of the coagulation factors needed for a normal clotting process. In this case, when a blood vessel gets injured, a temporary shell does form, but the missing coagulation factors prevent fibrin formation, which is necessary to maintain the blood clot.

When injured, a haemophilic may not bleed intensely, but the blood loss can last for a longer period, varying from a few days to many weeks, depending on the severity of the condition.

Haemophilia – A royal disease

Haemophilia has been called the Royal Disease because Queen Victoria, who was ruled England from 1837 to 1901, was a carrier.

Situation in India

India is home to approximately 100,000 people affected with haemophilia, with an estimated prevalence rate of 1:10,000. The irony is that only a few patients are able to afford the high costs and rest choose to ignore it. Also, according to experts, 80% of haemophilia cases are seen among the lower income groups.

Also, there are so many social taboos associated with the disease in India as a haemophiliac child is not given admission in school, people choose to ignore the disease thinking that an evil spirit has entered the body of the patient and there is no disease as such. Also, high cost for treatment refrains people from taking treatment.

Causes, Symptoms and Treatment

Haemophilia is caused by a genetic mutation. The mutations involve genes that determine the code for the proteins that are essential in the blood clotting process. The bleeding symptoms arise because blood clotting is impaired.

Haemophilia A is a recessive X-linked genetic disorder involving a lack of functional clotting Factor VIII.

Haemophilia B is a recessive X-linked genetic disorder involving a lack of functional clotting Factor IX.

Haemophilia C is an autosomal genetic disorder (i.e. not X-linked) involving a lack of functional clotting Factor XI.

Haemophilia symptoms are generally characterised by excessive bleeding and easy bruising. Patients with more severe haemophilia suffer more severe and more frequent bleeds, while patients with mild haemophilia usually suffer more minor symptoms.

One of the mostly used treatments of Haemophilia is the replacement therapy, which involves giving or replacing of clotting factors that are too low or missing in a patient.

For replacement therapy, the clotting factor concentrates can be derived from either human donor blood or can be synthetically made in the laboratory using methods that do not use donor blood.

Apart from replacement therapy, other haemophilia treatments include the drug Desmopressin treatment which is used for moderate forms of haemophilia A.

What the government can do?

Experts believe that since it is a rare disease and only a few people register from across the country, the government should take the step of making the treatment and medicines available to haemophilia-affected patients completely free.

(Compilation)