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Poster: 43
Visits: 19
Title: Systematic molecular analysis in Hemophilia A patients in a cohort from Bogotá, Colombia
Authors: Luz Yunis , Luz Yunis, Adriana Linares, Edgar Cabrera, Juan J. Yunis
Centre: Universidad Nacional de Colombia
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SYSTEMATIC MOLECULAR ANALYSIS IN HEMOPHILIA A PATIENTS IN A COHORT FROM BOGOT, COLOMBIA
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 | | Luz Yunis |
Thread initiator
Subspeciality
Reg: 6/25/2016 11:13:00 PM
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Comment# 1
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Hemophilia A (HA) is the most common bleeding disorder with a global incidence of 1 in 5,000 live born males. It is an X-linked recessive disorder. Worldwide, there are approximately 172,000 individuals who have the condition and of these, 60 have the severe form of the disease (plasma level of FVIII activity below 1). Intron 22 and intron 1 inversions (Inv22 and Inv1) represent the most frequent molecular alterations found in severe HA patients with a frequency of 45-50 and 0.5-5, respectively. Individuals with Inv22, Inv1, deletions and non-sense mutations usually have the severe form of the disease and increased risk for developing inhibitors during treatment. Here we propose a cost-effective systematic approach for the identification of molecular alterations in HA patients. : By this cost-effective systematic approach, we identified for the first time in Colombia, that 91 of our patients carried Inv22, Inv1, deletions or variations in coding sequence.
Comment added on 6/25/2016 11:13:00 PM
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