INVESTIGATION OF THE INHERITED MUTATIONS RELATED TO INVERSION PROCESS OF INTRON 22 IN A SAMPLE OF IRAQI PATIENTS WITH HEMOPHILIA

Abstract

Hemophilia (also Haemophilia) is an X- linked recessive bleeding disorder, it is caused due to the deficiency of the coagulation factor eight (FVIII) causing Hemophilia A, or coagulation factor nine (FIX) causing Hemophilia B. The first type (Hemophilia A) is more frequent than the second type (Hemophilia B), representing 80 % of the total of cases of hemophiliacs. About 45% of Hemophilia A caused by inversion in intron 22 of FVIII gene. Two-third of Hemophilia casesare due to inherited mutations, therefore, patients with a family history of this disease. The aim of this study was to detection of mutations of FVIII gene in 18 families ((18 Carriers (patients’ mother) and 18 patients) of hemophilia A patients. Polymerase chain reaction (PCR) and direct sequencing was performed for specific regions in intron 22 of the FVIII gene.