Evaluación comparativa de técnicas genotipado de SNP’s para el diagnóstico de drepanocitosis en Sudamérica

Abstract

Sickle cell anemia is a hematological disorder resulting from a point mutation that leads to the substitution of glutamic acid by valine at the sixth position of the β-globin gene. This mutation causes the erythrocytes to acquire a sickle-like shape, severely compromising their function and leading to significant health complications. Due to globalization and migratory movements, the condition has become a worldwide concern, contributing to an increased prevalence of heterozygous and homozygous individuals carrying the hemoglobin S allele. In South America, 14 genotyping methods have been identified for the detection of this mutation, among which Single Nucleotide Polymorphism (SNP) analysis stands out for its diagnostic utility. One of the most widely used and specific SNPs for the detection of sickle cell hemoglobin (HbS) is rs334, which offers high specificity and sensitivity, is cost-effective, and minimizes the risk of false positives and false negatives. This method is often used in conjunction with Sanger sequencing, which allows for the analysis of the full DNA sequence. This comprehensive approach enables the detection of multiple genetic variants, thereby supporting personalized treatment strategies based on individual genetic profiles. Given the phenotypic variability and the potential for misdiagnosis with other pathologies, the objective of the present study is to compare SNP genotyping techniques for the diagnosis of sickle cell disease in South America. Data were obtained through a systematic literature review of studies published within the last five years, selected based on article reliability, content quality, and methodological robustness. A total of 95 relevant articles were identified across various scientific databases.