Volume 20 No 8 (2022)
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Detection of Intron1 and exon 14 Mutations in Wasit City patients with Hemophilia A
Maysoon Mohammed Hassan
Abstract
: 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 guidin
Keywords
Factor 8 gene, Hemophilia A, intron 1, exon 14. mutations
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