Research Article

Genotyping of A1298C polymorphism of the MTHFR gene in patients with iron deficiency anemia at the Institute of Hematology and Hemotherapy of Amapá

Published: April 30, 2020
Genet. Mol. Res. 19(2): GMR18522 DOI: 10.4238/gmr18522


Iron deficiency anemia mostly affects children and adolescents, women of childbearing age and pregnant women due to their high iron requirements. The MTHFR enzyme helps maintain the pool of folate and methionine, avoiding the accumulation of homocysteine. Patients with elevated levels of homocysteine have a wide range of clinical features, including iron anemia, because cysteine is a protein derived from the metabolism of homocysteine and is related to iron homeostasis. The objective of our research was to determine whether the MTHFR gene A1298C polymorphism is related to the development of anemia in patients with iron deficiency anemia. We analyzed genetic polymorphisms using blood samples from blood donors who were part of the control group as well as patients with iron deficiency anemia through PCR and electrophoresis techniques. Among 42 patients, 21 had the AC genotype, 5 the CC genotype and 16 the normal AA genotype. In the control group, 58 blood donor samples were analyzed, of which 44 showed the genotype (AA) and 14 were identified as having the heterozygous (AC) genotype; no samples with the CC genotype were identified. Thus, we found a frequency of 0.62 and 0.24 of the A1298C polymorphism of the MTHFR gene for the patient group and the control group, respectively, which is a significant difference. We conclude that the A1298C polymorphism of the MTHFR gene may contribute to the development of iron deficiency anemia.