First report of molecular diagnosis of Tunisian hemophiliacs A: identification of 8 novel causative mutations.

ABSTRACT:

Introduction

Hemophilia A is an X linked recessive hemorrhagic disorder caused by mutations in the F8 gene that lead to qualitative and/or quantitative deficiencies of coagulation factor VIII (FVIII). Molecular diagnosis of hemophilia A is challenging because of the high number of different causative mutations that are distributed throughout the large F8 gene. Molecular studies of these mutations are essential in order to reinforce our understanding of their pathogenic effect responsible for the disorder.

Aim

In this study we have performed molecular analysis of 28 Tunisian hemophilia A patients and analyzed the F8 mutation spectrum.

Methods

We screened the presence of intron 22 and intron 1 inversion in severe hemophilia A patients by southern blotting and polymerase

SUBMITTER: Elmahmoudi H 

PROVIDER: S-EPMC3487796 | biostudies-literature | 2012 Aug

REPOSITORIES: biostudies-literature