Hemophilia clinical features and management

Hemophilia is an inherited disease which affects normal clotting of blood. Normally the blood is maintained in fluid form as it has to circulate continuously inside the blood vessels.

But when there is an injury a series of chemical reactions take place resulting in clotting of the blood. That is why bleeding stops after a while following injury.

Several proteins are needed for normal clotting of blood. They are called clotting factors. Two types of the disease are described-A and B. A type results from deficiency of factor VIII and B type results from deficiency of factor IX.

The disease is hereditary and is an X linked recessive disorder. It results from a genetic abnormality on the X chromosome.

As females have 2 X chromosomes the disease can manifest in a female only if both X chromosomes are affected. (In a dominant condition the disease can manifest if one of the pair of chromosomes is affected).

Hence females are usually carries of the disease. As men have only one X chromosome the disease always manifests in them.

The disease manifests with bleeding into joints (hemathrosis), muscles, easy bruising and prolonged bleeding after injuries.

Laboratory investigations reveal prolonged clotting time. Estimation of factor VIII is confirmatory.

It is possible to diagnose the condition in the fetus during pregnancy by demonstrating the abnormal gene.

Treatment consists of regular administration of factor VIII. The factor can be obtained either from human plasma or by recombinant techniques.

Bleeding can be controlled in most of the patients with regular factor VIII replacement. However some patients develop neutralizing antibodies which decrease the effectiveness of replacement therapy.

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