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The Significance of Exon 17 Mutations Within FVIII Gene in Wasit City Patients with Hemophilia A

Objective: Hemophilia A is an X chromosome-linked disorder caused by different abnormalities in F8 gene, resulting in the absence of impaired molecule production of factor VIII (FVIII) in the plasma, an important protein in the intrinsic coagulation pathway. The hereditary testing of the F8 gene encoding FVIII is utilized for confirmation of HA diagnosis, which fundamentally diminished serious confusions of this disease and at last leading to longer duration of life. Aims of study: Exon 17 mutations in the FVIII gene were detected and analyzed in 10 HA Iraqi patients. Patients and Methods: This study included 10 Iraqi patient with hemophilia A and 5 healthy members as control. This work done in medicine & science college laboratories as well as AL Zahra Hospital. These patients' prior diagnoses were based on DNA testing and family history. Results: During the screening for exon 17 among the HA patients, results showed 6 (60%) from 10 patients had this mutations. Discussion: It has been shown that the severity of F8 gene mutations is also correlated with their types and locations. Our data feature and information emphasize the prominence of exon 17 for its association with HA patients' positive family ancestry, and we are continue to operate for other exons mutations. Conclusions: Our findings are advantageous for prenatal diagnosis, carrier detection, and HA diagnosis. Our research also shows that patients with HA suspicion should undergo F8 gene mutation screening because there is an association between mutations and severity in our case studies.

Hemophilia A, Factor 8 Gene, Exon 17, Point Mutations, Frameshifts Mutations

APA Style

Maysoon Mohammed Hassan. (2023). The Significance of Exon 17 Mutations Within FVIII Gene in Wasit City Patients with Hemophilia A. International Journal of Biomedical Engineering and Clinical Science, 9(3), 60-65. https://doi.org/10.11648/j.ijbecs.20230903.15

ACS Style

Maysoon Mohammed Hassan. The Significance of Exon 17 Mutations Within FVIII Gene in Wasit City Patients with Hemophilia A. Int. J. Biomed. Eng. Clin. Sci. 2023, 9(3), 60-65. doi: 10.11648/j.ijbecs.20230903.15

AMA Style

Maysoon Mohammed Hassan. The Significance of Exon 17 Mutations Within FVIII Gene in Wasit City Patients with Hemophilia A. Int J Biomed Eng Clin Sci. 2023;9(3):60-65. doi: 10.11648/j.ijbecs.20230903.15

Copyright © 2023 Authors retain the copyright of this article.
This article is an open access article distributed under the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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