Abstract

Hemophilia A is an X-linked recessive bleeding disorder caused by a quantitative or qualitative deficiency of blood coagulation factor VIII (FVIII). The FVIII gene is 186 kb long, comprises 26 exons and maps to Xq28 [1]. Besides the great variety of mutations that has been described, FVIII gene markers could be used to trace any mutations in families afflicted with familiar forms of Hemophilia A [2–9]. The objective of this study was to determine allele frequencies of the extragenic, multiallelic St14 (DXS52) VNTR (Variable Number of Tandem Repeat) [4] in an Iranian population in order to test its efficacy in the genetic diagnosis of patients with Hemophilia A.

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