The Association of TMPRSS6rs4820268 Polymorphism with Iron Deficiency Anemia among the Population of Kurdistan: A Case Control Study

Anemia is a condition in which the concentration of hemoglobin (Hb) or red blood cell count (RBC) is lower than normal and is not sufficient to meet the physiological needs of the individual. Several genetic polymorphisms associated with iron status have been identified. The aim of this study was to investigate the relationship between rs4820268G > A polymorphism and iron deficiency anemia in Sanandaj. 

In this case-control study, 120 individuals including 40 patients with iron deficiency anemia (based on the results of ferritin test; hemoglobin, CBC and MCV) alongside 80 healthy individuals were studied. After DNA extraction, genotypes of individuals were examined by RFLP-PCR technique and the effect of HPY99I enzyme.

The frequency of AA, AG and GG genotypes among patients were (25) 25, (4) 10 and (26) 65% and in healthy group (57) 71.25, (17) 21.25 and (6) 5/ 7%, respectively. The odds ratio (OR) of the genotype, GG, is 22 times higher than that of AA. Also, the Hardy-Weinberg test showed a balanced population in this analysis.

The results showed a significant relationship between GG and AA genotypes with disease and health, respectively (P < 0.001). In other words, individual with GG genotype had lower Hb, MCV and Ferritin than people with AA and AG genotypes.