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.
India is home to approximately 100,000 people affected with haemophilia, with an estimated prevalence rate of 1:10,000
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.
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
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