J Thromb Haemost. 2012 Jul 3. doi: 10.1111/j.1538-7836.2012.04843.x. [Epub ahead of print]
Utility of multiplex ligation-dependent probe amplification (mlpa) for hemophilia mutation screening.
Source
Centers for Disease Control and Prevention, National Center on Birth Defects and Developmental Disabilities, Division of Blood Disorders, Atlanta, Georgia.Abstract
Hemophilia A (HA) and B (HB) are estimated to affect 1 in 5,000 male births in the United States each year.[1] Inheritance of mutations in the Factor VIII (F8) gene or Factor IX (F9) gene causes these bleeding disorders. Identification of mutations causing a patient's hemophilia can lead to better understanding of risk of complications [2], as well as aid in carrier detection in family members [3]. Mutation screening for HA has involved testing for inversions of introns 1 and 22 of F8, as approximately 45% of severe HA patients carry an inversion as their causative mutation [2], and sequencing of the coding regions of F8 to identify point mutations, deletions, or splice-site mutations. © 2012 International Society on Thrombosis and Haemostasis.© 2012 International Society on Thrombosis and Haemostasis.
- PMID:
- 22759210
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