Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.12104/64970
Title: Frequency of intron 1 and 22 inversions of factor VIII gene in Mexican patients with severe hemophilia A
Author: Mantilla-Capacho, J.M.
Beltran-Miranda, C.P.
Luna-Zaizar, H.
Aguilar-Lopez, L.
Esparza-Flores, M.A.
Lopez-Guido, B.
Troyo-Sanroman, R.
Jaloma-Cruz, A.R.
Issue Date: 2007
Abstract: Hemophilia A (HA) is one of the most common inherited bleeding disorders caused by FVIII gene mutations. Inversion of intron 22 (inv22) originates 50% of cases of severe HA and is a major risk factor for inhibitor development. Inversion of intron 1 (inv1) has been reported to occur in 2-3% of severe HA patients. We studied both inversions to determine their frequencies in Mexican patients with severe HA and to compare these data with other HA populations. The inv22 was evaluated as a risk factor for FVIII inhibitor development in severe HA patients. We studied 44 patients from 31 severe HA families for the detection of inv22 and 94 patients from 65 families to detect inv1. We used the subcycling long-distance PCR to detect inv22 and rapid PCR in duplex reactions to detect inv1. We found a frequency of 45% for the inv22 and no inv1-positive patients (0%). These frequencies were not statistically different from other populations, although haplotype analyses of FVIII gene and telomeric regions should be incorporated to explore population-specific variation of inv1 frequencies. Inv22-positive patients showed 1.88X higher risk for developing inhibitors with respect to patients carrying other severe mutations; however, this OR value was not significant. Our findings confirm inv22 as a hot-spot for severe HA and evidence the low frequency of inv1 in a Mexican population. The non-significant risk for developing inhibitors among inv22-positive patients agrees with the variety of genetic and non-genetic factors involved in such a complication. © 2007 Wiley-Liss, Inc.
URI: http://hdl.handle.net/20.500.12104/64970
Appears in Collections:Producción científica UdeG (prueba)

Files in This Item:
There are no files associated with this item.


Items in RIUdeG are protected by copyright, with all rights reserved, unless otherwise indicated.