Molecular diagnosis of sickle cell anemia in children treated at the Manuel de Jesús Rivera Children's Hospital, Nicaragua

Abstract

Sickle cell anemia (SCF) is an autosomal recessive disease caused by point mutations in the HBB gene. Individuals with altered hemoglobin S can be heterozygous or homozygous. Objective: The present work aimed to know the genotype of patients clinically diagnosed with SCF through PCR-RFLP, as an alternative method to hemoglobin electrophoresis, to be used for the diagnosis of SCF. Method: The study sample was 63 patients with a clinical diagnosis of SCF, from whom 5 ml of blood were taken for DNA extraction, amplification and digestion with restriction enzyme Eco81I (Bsu36I). The fragments were run in 2% Agarose electrophoresis and the genotype of the patients under study was identified. Results: 34.4% of children were aged 0-5 years, predominantly male with 61%, 53% came from Managua. In relation to their genotype, 82.5% of patients had SCD in its homozygous state, 3.2% heterozygous SCD, and in 14.3% of cases, the electropherograms were not compatible with SCD. Conclusions: In this study, most children seeking care for sickle cell anemia at Manuel de Jesus Rivera Hospital "La Mascota" are homozygous (82.5%), while only 3.2% are heretozygous, which is expected, knowing the clinical presentation of both states. 14.3% of the electropherograms were not consistent with SCD, which leads us to the need to examine other types of hemoglobinopathies.