Triagem neonatal de hemoglobinopatias no município de São Carlos, São Paulo, Brasil: análise de uma série de casos

Abstract

OBJECTIVE: To analyze the neonatal screening program for hemoglobinopathies in São Carlos, Southeast Brazil, by investigating a series of cases in which the screening test was abnormal. More specifically, it was aimed to know the information regarding the neonatal screening received by mothers at the hospital and at primary health care, in addition to information related to genetic counseling. METHODS: A descriptive study that enrolled 119 mothers, accounting for 73% of all children born between 2010 and 2011 with abnormal results of neonatal screening for hemoglobinopathies. The mothers completed a questionnaire that assessed the information received at hospital and primary health care, and issues related to genetic counseling. Descriptive statistics was performed. RESULTS: Of the 119 participating mothers, 69 (58%) had children with sickle cell trait, 22 (18.5%) with hemoglobin C trait, 18 (15.1%) with alpha thalassemia trait and, in 10 cases (8.4%), the result was inconclusive. At the hospital, 118 mothers (99.2%) received information about where to go to collect the test and 115 (96.6%) were informed about the correct time to collect the test. Only 4 mothers (3.4%) were informed about which diseases are investigated and the risks of not performing the screening. Seventeen mothers (14.3%) recognized the difference between trait and disease, and 42 (35.3%) considered that a positive screening test could have implications for future pregnancies. In 70 cases (58.8%), the child's physician was not informed about the screening test results. CONCLUSIONS: The neonatal screening program needs further improvement. In both scenarios investigated, health professionals demonstrated a lack of training in providing information to mothers and families.

Conhecimento Das Puérperas Sobre O Teste Do Pezinho

“…An alarming result was the fact that only 3% of those mothers received adequate guidance on the Guthrie test. However, a recent survey showed that, in 93.3% of cases, the nurse was the health care professional responsible for the provision of information about neonatal screening to mothers, and the physicians were responsible for only 5.9% of the cases 21 . In another study in the city of Cáceres, Mato Grosso, Brazil, 51% of mothers reported having received information from nurses and 22.4% of them from physicians 17 …”

Distribuição geográfica das hemoglobinopatias em recém-nascidos em Teresina, Piauí

“…A informação de prevalência das hemoglobinas S e C demostra relação entre as populações estabelecendo resultados semelhantes, não diferem comparado a pesquisas realizadas anteriormente em diversas regiões do País. Ressaltando a importância da realização e do PNTN com objetivo de reduzir a morbimortalidade por hemoglobinopatias, assim, possibilitando a implementação de programas mais efetivos de aconselhamento genético Lopes, et al, 2011;Cardoso, Macedo, Diedrich, Magalhães, & Castro, 2017;Silva, Baldim, Nhoncanse, Estevão, & Melo, 2015 de Teresina, que registrou alto Research, Society and Development, v. 9, n. 3, e01932259, 2020(CC BY 4.0) | ISSN 2525-3409 | DOI: http://dx.doi.org/10.33448/rsd-v9i3.2259 7 número de casos provavelmente decorrentes do município de Teresina ser o mais populoso do Estado. A Figura 1 apresenta a distribuição de ocorrência de hemoglobinas variantes por zona no município.…”

“…As hemoglobinopatias são doenças hereditárias mais frequentes a nível mundial, estimando-se que atinjam cerca de 7% da população no mundo (Marcão, Lopes, Sousa, Fonseca, & Rocha, 2016). Composta de um grupo heterogêneo de mais 100 doenças hereditárias, que em sua maioria é autossômicas recessivas, apresentando mais de 1.000 alelos mutantes, representadas principalmente pelas hemoglobinas S e C (HbS e HbC) em menor aparecimentos hemoglobinas D (HbD), hemoglobina fetal (HbF) e as talassemias, que se divide em alfa (α) e beta (β) é a segunda doença mais frequente e com maior importância clínica, a sua forma mais grave é chama de talassemia maior (portador homozigoto) e talassemia menor, ou traço talassêmico característico da herança de um único gene mutante (Silva, Baldim, Nhoncanse, Estevão, & Melo, 2015;Rosenfeld, et al, 2019).…”

“…No país, a doença genética mais frequente é a AF (HbS) dando destaque na população negra e parda, com incidência estimada em 1-3:1.000 nascidos vivos. É estimado a existência de cerca de 2 milhões de indivíduos com o traço falciforme (HbAS) e 8 mil com AF, as regiões Sudeste e Nordeste apresentam a maior incidência (Silva, Baldim, Nhoncanse, Estevão, & Melo, 2015). Dados revelam que, na Bahia a cada 1:650 nascem com HbSS e cerca de 1:17…”

Mortality by sickle cell disease in Brazil

“…For couples in whom both individuals have the SCT, identification of the condition and genetic counseling are important before starting a family 11 . Difficulty in distinguishing between the terms carrier and affected individuals was reported in two recent researches 12, 13. One showed that only 17 (14.3%) of the 119 mothers whose children presented an abnormal result in the screening test for hemoglobinopathies could acknowledge the difference between the trait and the disease 13 .…”