Importância do diagnóstico precoce do traço falciforme no contexto da triagem neonatal

Abstract

OBJECTIVE: The importance of early diagnosis of sickle cell trait through neonatal screening, and its relationship with genetic counseling and public health actions. METHODOLOGY: This is an integrative literature review with a qualitative and descriptive approach. RESULTS: After filtering the studies found, it was evident that sickle cell trait appears quite frequently in Brazil, ranging from 2% to 8% in the total population, especially among black and brown people and in the North and Northeast regions. Although neonatal screening reaches a large part of newborns, coverage still varies greatly from one region to another. In addition, many families do not receive the results clearly and have little access to genetic counseling, which makes it difficult to understand and provide adequate care. DISCUSSION: It points out that the effectiveness of Neonatal Screening fails to guarantee Genetic Counseling for parents, due to communication failures. This perpetuates the high mortality from Sickle Cell Disease. It is urgent to implement humanized and comprehensive counseling for HbAS patients, which is crucial for public health and family planning. FINAL CONSIDERATIONS: This work makes it clear that early diagnosis of sickle cell trait through neonatal screening is a fundamental strategy for reducing morbidity and mortality from sickle cell disease and for providing better guidance to the affected population.