Genetic Analysis of Coagulation Factor IX (FIX) Gene in Sample of Iraqi Patients With Hemophilia B.

Abstract

Hemophilia B (HB) is an X-linked recessive bleeding disorder caused by mutations in the coagulation factor IX (FIX) gene. Genotyping patients with HB is essential for genetic counseling and provides useful information for patient management. The aim of this study was to characterize the factor IX gene mutations in 20 unrelated Iraqi males hemophilia B patients from Thi-qar provence. This study  was carried  out  in the Institute of Genetic  Engineering  and  Biotechnology  –University  of  Baghdad, during the period from April, 2016 to April, 2017.Their ages  ranged from 4 -30 years .Polymerase chain reaction (PCR) and direct sequencing was performed to detect the  mutations in  patients. Three functionally regions of the gene (exon 4,exon 5 and exon 7)were screened. Twenty four point mutations were identified, including two missense variant (g15340  del G , p.Aspartic acid convert to Methionine acid) and (.22639 del A, p. Asparagine convert to Threonine) , two mutations were silent (g. 22632  del A, g. 22635  del A), while the rest of mutations were intronic mutations. These results conclude  that mutations  related with of  haemophilia B disease.