A Novel Missense Mutation, E1623G, in the Human Factor VIII Gene Associated With Moderate Haemophilia A.

ABSTRACT:

Introduction

Haemophilia A is the most common inherited X-linked recessive bleeding disorder. The severity of the resultant bleeding diathesis depends on the FVIII levels associated with the mutation. Analysis of carrier state can be made indirectly by DNA linkage analysis or directly by identifying the mutation that leads to the disease. The aim of this study was to identification of the causal mutation of the FVIII gene in a haemophilic patient.

Case report

Our case is a 16-year-old male haemophilia A patient with some symptoms such as recurrent hemarthrosis in left knee. In this study, we used single-stranded conformational polymorphism (SSCP) and conformational sensitive gel electrophoresis (CSGE) methods and direct sequencing to identify the mutation responsible for hae

SUBMITTER: Onsori H 

PROVIDER: S-EPMC3964430 | biostudies-literature | 2014 Jan

REPOSITORIES: biostudies-literature