A novel missense mutation, E1623G, in the human factor VIII gene associated with moderate Haemophilia A

Abstract EN

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 haemophilia A in our patient.

Conclusions : we reported a novel missense mutation (GAA→GGA), E1623G, in exon 14 of FVIII gene that is associated with moderate haemophilia A.

This new mutation was recorded in GenBank (NCBI) with accession number JF916726.1.

This study showed that the use of PCR-CSGE and PCR-SSCP may be useful in detecting most of genetic defects such as point mutations of FVIII gene in haemophilic patients.