Jornal de Síndromes Genéticas e Terapia Gênica
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Hemophilia: Disease, Diagnosis and Treatment

Giridhara Rao Jayandharan and Alok Srivastava

Hemophilia A and hemophilia B are hereditary X-linked disorders of blood coagulation caused by a deficiency of factor (F) VIII or FIX, respectively. Affected males suffer from joint and muscle bleeds and other serious internal bleeding, the severity of which is correlated with the level of the coagulation protein in their blood. Early diagnosis and cloffing factor (CF) replacement therapy has remarkably improved the outlook of patients with hemophilia, so that they can live near normal lives. However, major issues such as compliance due to need for frequent venous access and treatment failure due to development of alloantibody (inhibitors) to the replaced factor remain. Furthermore, due to cost and availability of CF3, state of the art care is inaccessible to a vast majority of patients in developing countries. Molecular genetic studies of the FVIII and FIX genes have not only allowed better understanding of the disease and its diagnosis but also led to the development of recombinant therapeutic products as well as gene therapy. Genetic evaluation is also becoming increasingly important for predicting the development of inhibitors, apart from carrier detection and genetic counseling.