Prevalencia al nacimiento de hemoglobinopatías en un hospital privado de la Ciudad de México: reporte de 7 años de tamizaje

Abstract

Introduction: hemoglobinopathies are autosomal recessive hereditary diseases caused by quantitative or qualitative alterations in the globin chains. Neonatal screening allows their detection. Objective: to report on the birth prevalence of hemoglobinopathies in a private hospital seven years after its implementation. Material and methods: this is a descriptive study on the results of the screening for hemoglobinopathies performed on all newborns over a seven-year period. Results: of 10,698 newborns studied, 48 were confirmed to have hemoglobinopathy, which gave a rate of 46 per 10,000 (95% CI: 30 to 59). One patient was confirmed with hemoglobin H disease and another at risk for alpha-thalassemia. The rest were heterozygous for structural hemoglobinopathies. Conclusion: although the prevalence of hemoglobinopathy is low, the rate is within what is expected at national and global levels.