Association of transmembrane protease serine 6 (TMPRSS6) gene Polymorphism with iron deficiency anemia in Iraqi women

Iron deficiency anemia (IDA) is a widespread health problem, particularly among women of reproductive age. While physiological demands and nutritional deficiency are common causes, genetic factors such as TMPRSS6 gene polymorphisms may play a significant role in development of IDA. This study aimed to evaluate the relationship between the TMPRSS6 rs855791 (C/T) polymorphism and the risk of IDA in Iraqi women. The current investigation was including IDA patient’s women as well as healthy control. Hematological parameters have been measured, along with genotyping distributions of the TMPRSS6 rs855791 variant was performed using PCR-RFLP. Quality control and IDA groups included blinded sample coding and random re-genotyping of 10% of samples. Statistical analysis was used to evaluate allele and genotype frequency and Genetic models and their correlation with Iron deficiency anemia. Hardy–Weinberg equilibrium was assessed using the chi-square test, and no significant deviation was observed (P > 0.05).
Demonstrate A case-control study was conducted involving (82) women diagnosed with IDA and (75) age-matched healthy women aged 18–45 years. Participants were recruited from Al Yarmouk Teaching Hospital in Baghdad. In this study, Women carrying the C/C genotype had a lower risk of IDA compared to T allele carriers (OR =0.346, 95% CI = (0.163-0.733), p = (0.0067). therefore, it is considered a protective effect against IDA. While T/T genotype indicate More frequent in IDA group . Hemoglobin, serum iron, and ferritin levels were markedly lower among individuals carrying the T allele. Multiple inheritance models confirmed the significant association between the polymorphism and IDA susceptibility. The TMPRSS6 rs855791 polymorphism appears to influence iron metabolism and may serve as a genetic risk contributors for IDA in Iraqi women. Screening for this variant could enhance early detection and allow for more tailored nutritional and therapeutic interventions.