The prevalence of rs3811647 polymorphism among young adults in Jazan University in Saudi Arabia: A cross-sectional study

Abstract

Transferrin (TF) is a pivotal protein in maintaining systemic iron homeostasis, and genetic variations in the TF gene might affect iron metabolism. This current study aimed to examine the prevalence of rs3811647 polymorphism in the TF gene, and its association with various hematological parameters among Saudi students. The current cross-sectional was conducted on 184 students (69 males, 115 females). The tetra-primer amplification refractory mutation system-polymerase chain (t-ARMS PCR) was used to detect the rs3811647 polymorphism and the complete blood count was used to assess the hematological parameters, including red blood cells (RBCs) hemoglobin (Hb), hematocrit (Hct), mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), and red cell distribution width (RDW). The results revealed that rs3811647 polymorphism was 23.7% in females and 15% in males. In particular the frequency of the heterozygous form “AG” was 20.2% in females and 11.7% in males, while the mutated homozygous form “AA” was 3.5% in females and 3.3% in males. The frequency of wild type (GG) was 76.3% in females and 85% in males. Hematological parameters showed microcytic anemia among females, reaching 38.3%, whereas the incidence of microcytic anemia in males was significantly lower (7.3%). Demographic and health characterization data showed nutritional factors, such as skipping breakfast, irregular meal patterns, and low intake of iron-rich foods like red meat, were identified as potentially major contributors to microcytic anemia such as IDA. The study also highlighted significant differences in exercise habits and vitamin supplementation between males and females, potentially contributing to the higher anemia rates among females. In conclusion, the current study revealed the existence of rs3811647 polymorphism in the Saudi population with no significant association with the development of anemia or altering the hematological parameters. The findings provide a basis for future research aimed at improving the diagnosis and treatment of microcytic anemia including IDA through a deeper understanding of genetic contributions to iron metabolism, ultimately enhancing public health strategies in the region. Keywords: Transferrin, TF gene, polymorphism rs3811647, hematological parameters, anemia, iron.