Abstract

The background: Is to detection of intron 22 mutations in the FVIIIgene inIraqi carriers in Wasit city with hemophilia A which is an X- chromosome linked recessive bleeding disorders caused by defect of the clotting factor VIII (FVIII), mainly related to F8 mutations which intron 22 inversion is the most common mutations type that occur in hemophilia over the worldt hat about half of the patients with severe hemophilia A have this mutations and by intron 1 inversion in 5% of the patients with severe HA. Both inversion mutations occur only in male and rare in females as a result of intrachromosomal recombination between homologous regions, in intron 1 or 22, and their extragenic copy located telomeric to the FVIII gene. Unfortunately regrettably in Iraq no studies were done regarding hemophilia gene detection in carriers with intron22 mutations barring this study. Aims of study: Detection analyze the presence of intron 22 mutations in the FVIII gene in 10 HA Iraqi carriers families with Importantly, there is a small risk for recurrence even when the familial F8 mutation is not identified in the mother of the affected patient due to the possibility of germline mosaicism in the community. Patients and Methods: This study included 10 Iraqi carriers with hemophilia A and 5 healthy members as control. This work done in medicine & science college laboratories as well as AL Karama Teaching Hospital from November, 2016 to January, 2017. These carriers previously diagnosed by family history, DNA testing. Results: During the screening for Inv22 (intron 22 inversions) among the HA carriers, results showed 4 (40%) from 10 carriers had this mutations. Discussion: Our data highlight the prominence of the analysis of Inv22 for their association with positive family history in the HA carriers and we are continuous searching of Inv1 mutations. Conclusions: Results indicate the bad effect of positive family history and the consanguinity marriage. Carriers of haemophilia A require spec

How to Cite
MOHAMMED HASSAN, Maysoon. Detection of Intron22 Mutations in Iraqi Female Carriers in Wasit City with Hemophilia A. Global Journal of Medical Research, [S.l.], mar. 2017. Available at: <https://medicalresearchjournal.org/index.php/GJMR/article/view/1266>. Date accessed: 24 nov. 2017.