Inventors: Assist. Prof. Dr. Ismail Hussein Aziz, Prof. Dr. Ismail Abdul Ridha Abdul Hassan/Institute of Genetic Engineering and Biotechnology, University of Baghdad
Abstract
Hemophilia (also Haemophilia ) is an X- linked recessive bleeding disorder, it is caused due to deficient of the coagulation factor eight (FVIII) that is causing Hemophilia A ,or coagulation factor nine (FIX) that causing Hemophilia B. The first type (Hemophilia A) is more than second type (Hemophilia B), represent 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 cases were cause due to inherited mutations, therefore, a patients have 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 ) with hemophilia A patients. Polymerase chain reaction (PCR) and direct sequencing was performed for a specific regions in intron 22 of the FVIII gene.
The results showed 13 of 18 patients mothers(carriers) were shared a mutations with their child, the proportion 72.2% of hemophilia was inherited from the mothers (inherited mutation, with family history), while 27.8% were new (spontaneous) genetic mutations and this corresponded with many international studies. these mutations may be caused the fragile fragments that lead to inversion presses which responsible for about 45% of hemophilia A causes. New base-level inversion regions (g.144368 G> T and g.144369 T> G) as well as g.144431 A> C and g.144432 C> A) have been identified 4 to 13 times in the studied families, It can be used as markers of hemophilia. This is the first specialized qualitative study in the diagnosis of hemophilia at the level of Iraq.