Journal
SEMINARS IN THROMBOSIS AND HEMOSTASIS
Volume 38, Issue 1, Pages 64-78Publisher
THIEME MEDICAL PUBL INC
DOI: 10.1055/s-0031-1300953
Keywords
hemophilia; genetic diagnosis; phenotype; variation; inhibitor; gene therapy
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Funding
- Department of Science of Technology, Government of India
- Department of Biotechnology, Government of Indi [2010-BT/03/IYBA/2010, BT/PR14748/MED/12/491/2010]
- Bayer Hemophilia Awards Program, Bayer Inc.
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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.
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