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Home > Archives > Volume 20, No 8 (2022) > Article

DOI: 10.14704/nq.2022.20.8.NQ44415

Detection of Intron1 and exon 14 Mutations in Wasit City patients with Hemophilia A

Maysoon Mohammed Hassan

Abstract

OBJECTIVE: A directed-search strategy for hot mutations in the factor Vlll gene causing hemophilia A, which investigates the frequency of intron 1 inversion (inv1) and exon 14 mutations in FVIII gene in Iraqi hemophilia A (HA) patients in Wasit City, which is most common X- chromosome-linked inherited bleeding disorders caused by mutations in this large gene. About 5% of the patients with severe hemophilia A affected by intron 1 inversion, and all 26 exons in the FVIII gene create a 9-kb mRNA transcript except exon 14, which is 3.1 kb and represents a "hotspot" for mutation by high GC content. Unfortunately, in Iraq, no studies were done regarding hemophilia gene detection in Intron1 and exon 14 Mutations barring this study. Aims of the study: Detection analysis of exon 14 and intron 1 mutations in the FVIII gene in 8 HA Iraqi patients. Patients and Methods: This study included 8 Iraqi patients with hemophilia A and 5 healthy members as control. This work was done in medicine science college laboratories and AL Karama Teaching Hospital from November 2021 to January 2022. These patients were previously diagnosed by family history and DNA testing. Results: During the screening for exon 14 and Inv1(intron 1 inversions) among the HA patients, results showed 4 (40%) from 8 patients had these mutations. Discussion: Our data feature and information highlight the conspicuousness of the examination of Inv1 and exon 14 for their relationship with positive family ancestry in HA patients. We are consistently looking for other exons and introns changes and continuously searching for other exons and introns mutations. Conclusions: Results indicate the bad effect of positive family history and the consanguinity of marriage. Patients of hemophilia A require special obstetric care with close liaison with the hemophilia center. Changes also demonstrate the terrible impact of positive family ancestry and marriage relationships. Patient of hemophilia A requires exceptional obstetric consideration with close contact with the hemophilia place, and the executive's rules ought to be accessible and noticed. This outcome addresses a stage for hereditary guiding.

Keywords

Factor 8 gene, Hemophilia A, intron 1, exon 14. mutations

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