GENETIC DIAGNOSTICS OF HEMOPHILIA A

Abstract

Background. Hemophilia A is a chromosome X-linked bleeding disorder due to mutations in the FVIII gene. There are 163 hemophilia A patients in Slovene registry for Hemophilia. 74 have severe hemophilia A and 50% of patients with severe hemophilia A have inversion of intron 22 that is detected using the LD-PCR method. Point mutations are detected by amplification of exons of the factor VIII gene followed with a direct sequencing technique.Results. In the Slovene population we managed to determine a genetic mutation in 67/163 patients, 36/67 have inversion of intron 22 and another 31/67 have 12 different point mutations in the FVIII gene which cause hemophilia A. Three of them are so far found only among Slovene patients.Conclusions. The identification of hemophilia mutations is of great importance for the timely discovery of the hemophilia carriers and the pre-natal diagnostics of hemophilia A.

Keywords

• hemophilia A
• coagulation factor VIII
• intron 22 inversion mutation