Role of TMPRSS6 rs855791 (T > C) polymorphism with iron and ferritin in Iraqi adult patients with iron deficiency anemia

Abstract

Our study aimed to investigate the association between TMPRSS6 polymorphism and risk of iron deficiency anemia. In this analytical (case and control) study, venous blood samples were taken from (100) subjects, (50) patients with iron deficiency anemia and (50) healthy volunteers as a control group. Hemoglobin (Hb), mean corpuscular volume (MCV), mean corpuscular hemoglobin concentration (MCHC), mean corpuscular hemoglobin (MCH), iron, and ferritin were measured. Genomic DNA was extracted by salting out method and the TMPRSS6 C/T polymorphism and AQP1 were analyzed using polymerase chain reaction (PCR). The results showed that the frequency of TT genotype of TMPRSS6 C/T polymorphism was higher in IDA patients. The results also showed significantly low Hb concentration, MCV, MCHC, MCH, iron, and ferritin in IDA patients when compared with normal individuals (P≤0.00). The well gene and mutant gene within the IDA patients were shown to have no interaction with the CBC parameters (Hb, MCV, MCHC, MCH and RBC). The frequency of TT genotype of AQP1 polymorphism was significantly higher with mutant gene in IDA patients in comparison with the controls. In conclusion, there were statistically significant association between TMPRSS6 C/T polymorphism and risk of IDA and the same as of AQP1gene among Iraqi patients in Baghdad state. Also, There were interactions observed between TMPRSS6 C/T genotypes and AQP1 with means of Hb, MCV, MCHC, MCH, and iron in IDA patients group when compared with normal individuals. But there were no statistically significant differences between well gene and mutant gene in IDA patients.