
Detection of Intron22 Mutations in Iraqi Female Carriers in Wasit City with Hemophilia A
Author(s) -
Maysoon Mohammed Hassan
Publication year - 2017
Publication title -
global journal of medical research
Language(s) - English
Resource type - Journals
eISSN - 2249-4618
pISSN - 0975-5888
DOI - 10.34257/gjmrfvol17is1pg13
Subject(s) - genetics , intron , germline mutation , gene , germline , mutation , medicine , biology
The background:One of the prevalent main concerns in the medical world is the identification of Intron22 mutations in the Factor VIII gene carriedby Iraqi patient in Wasit town, in Iraq suffering Hemophilia A (classical hemophilia) which is related to a X-chromosome recessive haemorrhage afflictions as the result of a flaw in the coagulation factor VIII (FVIII). It is essentially related with F8 mutations of Intron22 in version whichformsthemosttypicalkindof mutations of blood afflictions worldwide involving half the patients suffering from severe Hemophilia A that possesses mutations, in addition to Intron 1 inversion suffered by 5% of severe Hemophilia A patients.All of the inversion mutations are suffered mainly by males,and uncommonly by females due to the intra chromosomal recombination among the homologous areas, in inversion 1 or 22, with extragenic copy posited the telomeric to the Factor VIII gene. Unfortunately, there is an absence in Iraq on researches pertaining blood affliction gene identification in persons who carries the Intron22 mutations exception in the current research.Aims of study:The objectives of the research is to to analyze through the detection mechanisms, the existence of Intron 22 mutations in the Factor VIII gene of 10 Hemophilia A Iraqi carriers cohort families. The hypothesis and anticipated result is that there will be a minimal margin of hazardous possibility for the recurrence. The hereditary F8 mutation is unknown to be present on the maternal side of the patient sufferer due to the possibilty of germline mosaics that exists within the community.