What is Haemophilia?

Last Updated: Apr 18, 2013, 10:31 AM IST

What is Haemophilia?

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.

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.

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

India has nearly over 100,000 haemophilia patients, most of who face severe problems in treatment, with only a few able to afford the high costs.


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.

Compilation by: Shruti Saxena