Genotipagem do polimorfismo A1298C do gene MTHFR em pacientes do HEMOAP diagnosticados com anemia ferropriva

Abstract

Introduction: Anemia, characterized by low concentration of hemoglobin levels, is caused by several factors. Iron deficiency anemia is the most common and especially affects children and adolescents, women of childbearing age and pregnant women due to the high iron requirements. MTHFR 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. Cysteine is a protein derived from the metabolism of homocysteine and is related to the regulation of iron in the body. Objective: To identify the A1298C polymorphism of the MTHFR gene in patients with iron deficiency anemia, compared with socioeconomic data. Methods: We analyzed the genetic polymorphism of the blood samples from the blood donors who were part of the control group and the patients with HEMOAP iron deficiency anemia through PCR and electrophoresis techniques. We also applied a socioeconomic questionnaire. The same questionnaire was applied to the control group and to the patients who agreed to participate in the study through the signing of the Informed Consent Term. Samples and hematological data of the patients were obtained by authorization of HEMOAP with the signature of the Term of Consent. Results and Discussion: In a total of 42 patients, 21 (50%) had the AC genotype, 5 (12%) CC genotype and 16 (38%) normal AA genotype. Regarding the socioeconomic data, the majority of the patients presented low family income and with education level up to high school completed. Conclusion: Through the results of the molecular analyzes and the comparison with the questionnaire data presented in the tables, it can be concluded that the A1298C polymorphism of the MTHFR gene and the social and economic characteristics may contribute to the development of iron deficiency anemia