24October2017

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Haemophilia- Drug Today Medical Times

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Haemophilia is an inherited genetic bleeding disorder that badly impacts the body’s ability to make blood clots, a process required to prevent bleeding. The consequences of Haemophilia are abnormal or exaggerated bleeding and poor blood clotting.

Patients affected with this disorder have continuing bleeding after an injury, easy bruising and there is an increased risk of bleeding inside joints or the brain. It may be noted that patients with mild case of Haemophilia may have symptoms only after an accident or during surgery.

In mild cases, bleeding into a joint might result in permanent damage while bleeding in the brain can lead to long term seizures, headaches or a decreased level of consciousness.

Haemophilia is classified in two parts. Haemophilia A and Haemophilia B. Both A and B are inherited in an X-linked genetic pattern. Therefore, males are commonly affected while females are usually carriers of the disorder. The deficiency of clotting factor VIII causes Haemophilia A while deficiency of factor IX results Haemophilia B.

Treatment Pattern.

Treatment of Haemophilia involves coagulation factor replacement therapy. It is said that the formation of inhibitors to the treatment factor concentrates is a significant complication of treatment. Gene therapy treatments are a source of active research and hold promise for the future.

It is noted that a majority of patients with Haemophilia have family history of the condition. However, about one-third of cases occur in the absence of a known family history. Most of these cases without a family history arise due to a spontaneous mutation in the affected gene. Other cases may be due to the affected gene being passed through a long line of female carriers.

The prevalence of Haemophilia is rare. It is reported that Haemophilia A affects about 1 in 5,000–10,000, while Haemophilia B affects about 1 in 40,000, males at birth.