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Semin Thromb Hemost. 2012 Feb;38(1):64-78. doi: 10.1055/s-0031-1300953. Epub 2012 Feb 7.

Role of molecular genetics in hemophilia: from diagnosis to therapy.

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Department of Hematology/Centre for Stem Cell Research, Christian Medical College, Vellore, India.


Despite significant advancements, state-of-the-art care remains inaccessible to patients with hemophilia, especially those from developing countries. Thus, innovative approaches in the management of this condition are needed to improve their quality of life. In this context, genetic studies in hemophilia have contributed to the better understanding of its biology, the detection of carriers, and prenatal diagnosis, and even fostering newer therapeutic strategies. This article reviews the applications of molecular genetics in hemophilia, in general, and how such techniques can be useful for optimizing patient care, in particular.

[Indexed for MEDLINE]

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