Association between Trans-Membrane Protease Serine 6 Gene (C5971T) Polymorphism and Risk of Iron Deficiency Anemia in Khartoum State

Abstract

This analytical study (case and control) aimed to investigate the association between TMPRSS6 gene C5775T on uncoded region intron15 polymorphism and risk of iron deficiency anemia. Two hundred subjects were recruited for this study, 100 patients affected with iron deficiency anemia and 100 healthy volunteers as a control group. Patients data (age, gender, hemoglobin, mean corpuscular volume and red cell distribution width) was collected from patient’s medical files by questionnaire, three ml of blood were collected from all participants in EDTA anticoagulant containers, genomic DNA was extracted by salting out method and the TMPRSS6 C/T polymorphism was analyzed using polymerase chain reaction. Amplified fragments separated on 2% agarose gel stained with ethidium promide and demonstrated by gel documentation system, which produce single band at 249 bp represented C homozygous (CC). The data analyzed by computer program SPSS version16. TMPRSS6 gene investigated by PCR, The TT genotype of TMPRSS6 C/T polymorphism was higher frequent in IDA patients (71.4%). The results showed low hemoglobin concentration and MCV while RDW was increase significant difference (P≤0.00) in IDA patients when compere with normal individuals. But the well gene and mutant gene within the IDA patients had no interaction with the CBC parameters (Hb, MCV and RDW). In conclusion, there were statistically significant association between TMPRSS6 C/T polymorphism and risk of IDA among Sudanese patients in Khartoum state. The Further studies should be use other techniques (RFLP and DNA sequencing) to detect TMPRSS6 gene.