, Volume 92, Issue 7, pp 999-1000
Date: 23 Dec 2012

Factor VIII haplotypes in severe hemophilia A patients in India

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Dear Editor,

Alloantibodies against infused factor VIII (FVIII) or “FVIII inhibitors” can develop in some hemophiliacs, especially those with severe hemophilia A, which makes clinical management very difficult, especially in India, where expensive treatment products are not readily available. The incidence of FVIII inhibitors has been reported to be 8.2 %, with an increased tendency following surgical procedures (up to 19 %), among Indian severe hemophilia A patients [1, 2]. FVIII inhibitor development appears to be influenced by various genetic and nongenetic risk factors [3].

Recently, four exonic non-synonymous F8 single-nucleotide polymorphisms (SNPs), G1679A [R484H], A2554G [R776G], C3951G [D1241E], and A6940G [M2238V], whose haplotypes encode six wild-type FVIII proteins (H1–H6), have been implicated as risk factors for the higher incidence of FVIII inhibitors in African-Americans, due to mismatched FVIII transfusions [4]. The Caucasian group was found to have only the H1 and H2 ha