Haemophilia: the Bleeding Gene

17 April 2012

April 17 marks World Haemophilia Day. Haemophilia, a hereditary lifelong genetic disorder, is a quite rare disorder one in about 10 000 persons is born with, much more common to occur in males; it impairs the body to control blood clotting when bleeding. The disorder can appear in two forms, Haemophilia A and Haemophilia B caused by different clotting factors but concerning the same symptom: longer bleeds. Haemophilia A is the most common form present in up to 85% of haemophilia patients.

Prolonged bleeding and re-bleeding are the diagnostic haemophilia symptoms. Patients suffering from this disorder have both cases of internal and external bleeding, spontaneously or on trauma and the bleedings mostly occur in the large joints, varying in frequency from a few times a week to just a few times a year.

Treatment for haemophilia involves replacing the missing clotting factor, either sourcing it from human blood plasma or using the so-called synthetic factor VIII. Once factor replacement therapy has been carried out, patients are encouraged to undertake physical therapy and rehabilitation in order to prevent joint deformation. In case haemophiliacs don't get treatment, consequences could involve death or severe anaemia, severe deformities of joints, flexion/extension deformities, weakness of legs, shortening of leg leading to permanent damages. There is yet no cure for this particular blood condition.

According to the World Federation of Haemophilia (WFH) and the European Haemophilia Consortium (EHC), these are the most current haemophilia facts:

• Worldwide, the % of the population affected with haemophilia is estimated at 1 x 10 000 (2005)• The total number of people diagnosed with haemophilia A and B in the EU in 2004 was 33,145• Currently, the number of people with haemophilia in the United States is estimated to be about 20,000, based on expected births and deaths since 1994• In about two thirds of cases, there is a family history of hemophilia

The WFH launched the "Close the gap" campaign to raise global awareness on this rare disease and help making treatments available at a global level.

For further information about haemophilia please refer to the IntechOpen's list of publications on the subject below; all IntechOpen's publications are free to read, share and download.

Haemophilia, edited by Angelika Batorova, IntechOpen, Mar. 2012

Targets in Gene Therapy, edited by Yongping You, Intechopen, Aug. 2011

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