Detection of Intron22 Mutations in Iraqi Female Carriers in Wasit Province with Hemophilia A
The background: One of the prevalent main concerns in the medical world is the identification of Intron22 mutations in the Factor VIII gene carried by Iraqi patient in Wasit town, in Iraq suffering Hemophilia A ( classical hemophilia) which is related to a X-hromosome recessive haemorrhage afflictions as the result of a flaw in the coagulation factor VIII (FVIII). It is essentially related with F8 mutations of Intron22 inversion which forms the most typical kind of 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 intrachromosomal 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. Patients and Methods: The current research involved 10 Iraqi Hemophilia A carrier, and 5 healthy sampling to act as the control.This study had utilized medicine and science school labs, with the inclusion of AL Karama Teaching Hospital over a time period from November, 2016 up to January, 2017. The aforementioned respective carriers have a previous history of diagnosed case history and DNA testing. Results: During the whole of the screening duration for Inv22(intron twenty two inversions) amongst the Hemophilia A carriers, the outcomes indicated that 4 out of the 10 carriers (40%) suffer from these mutations. Discussion: The research findings highlights on the significance of the Inv22 analysis and their relationship with positive hereditary case history within the Hemophilia A carriers, in addition to our ongoing pursuit of seeking for Inv1 mutations. Conclusions: The outcomes defines the detrimental influence of a diagnosed positive family case history and the proximal affinity lineage in marriage. There is a dire necessity for Hemophilia A carriers to be given specialized and dedicated obstetrical attention with close contact with the haemophilia centre, in addition the management processes concerning the case should be available ought and identified. The outcome manifests the pathway towards a genetic guideline. Having the information pertaining the gender of the foetus gender is significantly crucial to assist in the supervision of labor, in addition to diagnostic processes.
