Genetic study of hemophilia A in Iraqi teenager

Hemophilia A (HA) is caused by a deficiency in FVIII, an essential cofactor in the activation of the FX complex. In DNA, SNPs have a major role in gene alterations that disturb gene product sequencing. In this thesis, blood samples were taken to tube with EDTA from 60 patients ranging in age (6-24) years with severe, moderate, and mild deficiency of factor VIII. The samples were stored at -20℃ until using. All samples were obtained from the Medical City of Baghdad between the 13th of Jun 2021 to 28th of September of 2021. This research aims to study the clinical and biological factors and the extent of their impact on the F8 gene that causes HA. All were examined by conventional PCR and then sequencing for intron 18 specifically at SNP (rs4898352) located at chrX:154903815 (GRCh38.p13). The results showed severe HA 75% (45/60), moderate 15% (9/60), and mild 10% (6/60). The ages between (20-29) years (n=25) (41.6%) showed the major age range of severe HA. PCR sequencing confirmed the causative mutation for the hemophilic patients showed A>T Nucleotide Location (123909) transversion mutation. There is a strong relationship between family history and HA that caused traits to be passed to children, especially mothers. Our results indicated a big correlation among young ages with HA. Furthermore, early clinical examinations should be performed for early treatment.