Integrative review evaluation of newborn screening for the diagnosis of sickle cell anemia

Abstract

INTRODUCTION: Sickle cell anemia is a hereditary, chronic hemoglobinopathy, defined as a hemolytic anemia, caused by a deformation in the structure of erythrocytes due to the production of Hb “S”, changing the natural biconcave format, to a “sickle” or “sickle” shape. half Moon". Data show that sickle cell anemia reached in the period from 2014 to 2020, the annual average of 1,087 new cases of children diagnosed with sickle cell disease. The test for initial diagnosis is the so-called “Heel Foot Test”, which comes from neonatal screening and is performed using the High Performance Liquid Chromatography method. PURPUROSE: The objective of this work is to carry out an integrative review on the evaluation of neonatal screening for the diagnosis of sickle cell anemia. METHODS: This is an integrative literature review. The survey of scientific articles was carried out using the descriptors: “Neonatal screening”; “sickle cell anemia”; “Neonatal screening”; and “sickle cell anemia”, using the Boolean operator “AND”, in the Scientific Electronic Library Online (SciELO) and PubMed databases; in the period from April 1 to May 20, 2023 RESULTS: A total of 234 articles were found, of which 84 were excluded for not meeting the inclusion criteria (complete and free articles and temporal cut), leaving 150 publications. Of these, 100 articles were excluded, according to pre-established criteria and after reading the titles and abstracts of articles that did not meet the initial theme of this study. 50 works were submitted to readability evaluation, culminating with a quantitative of only 11 scientific articles included as object of study in this integrative review, being (2) Scielo and (9) PubMed. CONCLUSION: Therefore, all the studies analyzed in this review demonstrated the importance of the presence and performance of neonatal screening for genetic diseases, especially for sickle cell anemia, since early detection of this chronic and severe disease is essential. This screening and subsequent early clinical intervention can reduce infant mortality, minimize comorbidities, generating better quality and increased life expectancy for patients with this main type of hemoglobinopathy.