Abstract
Sickle cell disease (SCD) is the most common inherited hematological disease worldwide. The benefits of diagnosis and early intervention have led to the wide dissemination of public health programs worldwide. Through neonatal screening programs, it is possible to reduce morbidity and mortality in the first 5 years of life. The prophylactic use of penicillin, the anti-pneumococcal vaccine and other intensive care, increase the survival and quality of life of people with SCD. The aim of this study is to present the 20-year history of screening for hemoglobinopathies in Brazil and its challenges. From 2001 to 2019, an average of 2,400,000 children were screened per year nationwide, with the coverage being of 82,16%. The screening of 54,9% of newborns is collected up to their 5th day of life. The prevalence of SCD was 1:2,263 newborns; therefore, it was the second most-common disease detected by the program of Brazil, being only after hypothyroidism (1/2,175 live births). The healthcare system should provide the necessary infrastructure to confirm the diagnosis of newborns and to provide appropriate counseling and treatment. The early diagnosis and treatment, as well as the follow-up with a multidisciplinary team, are fundamental to the survival rate and the quality of life of patients.
Highlights
Hemoglobins are genetically determined, changes to their genes, a disorder that can lead to the production of proteins with characteristics different from the ones expected and can result in the formation of a pathological hemoglobin, in several cases, it offers pathophysiological consequences to its carrier
The sickle cell disorder (SCD) has been discovered more than 100 years ago; it was mainly in the past decades that the world has advanced towards its prognosis, certainly in virtue of the results provided by Neonatal Screening Programs, its diagnostic benefits and early prophylaxis, which can reduce morbidity and mortality
Incorporation of hemoglobinopathies in Brazilian neonatal screening programs Due to the extensive arrival of the African population, resulted from the slave trade in the 16th-18th centuries, the World Health Organization recommends the implementation of programs for hemoglobinopathies prevention and control in Latin America.[10]
Summary
Hemoglobins are genetically determined, changes to their genes, a disorder that can lead to the production of proteins with characteristics different from the ones expected and can result in the formation of a pathological hemoglobin, in several cases, it offers pathophysiological consequences to its carrier. The SCD has been discovered more than 100 years ago; it was mainly in the past decades that the world has advanced towards its prognosis, certainly in virtue of the results provided by Neonatal Screening Programs, its diagnostic benefits and early prophylaxis, which can reduce morbidity and mortality This early diagnosis has provided a greater knowledge on the early complications of SCD, leading to the creation of prophylactic measures, such as the use of penicillin, the administration of pneumococcal vaccines and other precautions, including the use of hydroxyurea.[2] These actions significantly increase survival rates and improve the quality of life of patients with SCD, reducing sequelae and complications, such as painful crises and splenic sequestration, resulting in a better quality of life.[3] In neonatal screening, Received january 15, 2021, and in revised form april 11, 2021.
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