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Home > Archives > Volume 20, No 11 (2022) > Article

DOI: 10.14704/NQ.2022.20.11.NQ66302

Determination of some genes for patients with haemophilia

Saif Abdulmahdi Owaid, Murat Çanlı, Amran M. AL-Erjan

Abstract

The present study aimed to establish a methodology for the molecular identification of changes in the F8 gene, through the indirect analysis of the mutation, seeking to identify women with 35 families of patients affected by haemophilia A, registered at the Hemotherapy and Hematology Center of Baghdad Teaching Hospital, Iraq. The results showed that the prevalence of inhibitors in severe Haemophilic A patients was higher among Thi Qar and Wasit governorate patients compared to other regional groups. The higher incidence of inhibitors among Thi Qar and Wasit governorate haemophiliacs was not associated with F8 haplotypes, as observed in North Americans. Hemophilic patients with an indigenous history had a considerably lower incidence of inhibitor development. The mutations found among patients with inhibitor were all belonging to the group of high risk mutations for inhibitor development. Screening using bio arrays in samples from related (discordant pairs of the same family) and unrelated patients resulted in 66 genes differently expressed between groups with and without inhibitors. Ten genes were selected for evaluation by the RT-PCR method, where three genes (IL-10, IL-8 and CST7) showed statistically different expression between groups. IL-10 was less expressed among patients without inhibitor. Although this result has never been described in previous clinical studies, our results are compatible with the effect of IL-10 in in vitro and animal studies. IL-8 was significantly more expressed in the group of patients with inhibitors. This is a correlation never described before. It is possible that a new mechanism is also involved in the development of inhibitors. Cystatin F was statistically more expressed in patients with inhibitors.

Keywords

gene, haemophilia, inhibitors

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