An investigation of the association between rs۳۶۸۶۹۸۷۸۳ variant and Xmn۱ (rs۷۴۸۲۱۴۴) polymorphism with levels of fetal hemoglobin in β thalassemia carriers

Thalassemia, a prevalent genetic disorder worldwide, affects numerous individuals. One of the implicated genes is the gammaglobin gene, responsible for fetal hemoglobin synthesis, with various studies indicating that polymorphisms in this gene can modulate fetal hemoglobin production. This study aims to assess the impact of two polymorphisms, rs۳۶۸۶۹۸۷۸۳ and XMN۱, on fetal hemoglobin levels. Blood samples were collected from ۶۲ patients, categorized into two groups based on fetal hemoglobin levels: HbF<۲ (n=۲۱) and HbF>۳ (n=۴۱). DNA extraction was performed using the Salting out method, followed by Tetra ARMS PCR primer design for rs۳۶۸۶۹۸۷۸۳ and XMN۱ polymorphisms. PCR was conducted separately for each polymorphism, and the results were visualized on agarose gel. Statistical analysis was employed to determine the significance of the results. The comparison of polymorphisms between these two patient groups did not yield statistically significant differences. Despite the lack of association between the investigated polymorphisms and gammathalassemia in this study, further research with larger sample sizes and additional molecular techniques is recommended to enhance understanding of the molecular mechanisms underlying this disorder.

کلیدواژه ها:

rs۳۶۸۶۹۸۷۸۳ ، XMN۱ ، gammathalassemia ، gammaglobin gene ، Tetra ARMS PCR