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Chapter: Biochemistry: Inborn Errors of Metabolism

Hemophilia: Causes, Symptoms

The process of blood coagulation is a vital mechanism of defence against excessive loss of blood.

Hemophilia

 

The process of blood coagulation is a vital mechanism of defence against excessive loss of blood. There are nearly 13 factors involved in the mechanism of blood clotting. If any one or more of these factors are not synthesised adequately and properly that results in defect in blood clotting and thereby hemorrhage.

 

A number of inherited deficiency of the blood clotting factors are found in human and are collectively called as hemophilias.

 

Causes

 

Hemophilia is an inherited disease, where clotting occurs at an abnormally slow rate due to the absence of one or more of the blood clotting factors. The sufferers are known as ‘ hemophiliacs ’ or ‘ bleeders’. It is peculiar that it affects only males. The most common deficiency is that deficiency of the factor VIII, causes hemophilia A. Deficiency of factor IX causes hemophilia B. Deficiency of factor XI causes hemophilia C.

 

Symptoms

 

The characteristic findings of this disease are:

·              Bleeding which does not stop. These individuals should be extremely careful not to contract even minor injuries like trauma or extraction of tooth, since this may result in severe hemorrhage ( blood loss ).

 

·              Marked prolongation of the coagulation time of the blood, while prothrombin time being normal.

 

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Biochemistry: Inborn Errors of Metabolism : Hemophilia: Causes, Symptoms |


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