Evaluation of a neonatal screening program for sickle-cell disease

Eller, Rodrigo; Silva, Denise Bousfield da

doi:10.1016/j.jped.2015.10.002

Cited by 8 publications

(12 citation statements)

References 12 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…A selective pressure with the evolution of the disease would have contributed to the increase in its prevalence. Results found in the literature indicate abnormal hemoglobin frequencies ranging from 0.22% to 31% [ 4 , 5 , 9 , 13 , 20 , 23 – 25 ]. Some of these observations are comparable to ours [ 4 , 5 ]; on the other hand, others had different results from ours [ 9 , 13 , 20 , 23 – 25 ].…”

Section: Discussionmentioning

confidence: 99%

Neonatal Screening for Sickle Cell Disease in Congo

Dokékias

Gokaba

Louokdom³

et al. 2022

Anemia

View full text Add to dashboard Cite

Introduction. Sickle cell disease is an autosomal recessive inherited disorder due to the mutation of a gene coding for the globin beta chain. The aim of this study is to update the epidemiological data on hemoglobinoses, in particular sickle cell disease in newborns in Congo. Materials and Methods. This was a descriptive cross-sectional study, conducted from October 1, 2019, to March 31, 2020, throughout the Congolese national territory. It involved all full-term newborns, without distinction of nationality, aged 5 days or less, and whose parents consented to participate in the study. The blood samples, taken at the heel and collected on Whatman blotting paper, were analyzed using the HPLC Variant NBS machine. Results. In 2897 newborns (NN) screened, hemoglobin abnormalities were found in 603 NN (20.81%). The mean age of these newborns was 1 day (extremes 0 and 5 days). The male-to-female ratio was 1.03. Abnormal hemoglobins were mainly Hb S (n = 597 (97.71%)); Hb C (n = 5 (0.82%)); and variants (n = 7 (1.15%)). The national prevalence of major sickle cell (MSC) syndromes and sickle cell trait was 1.35% and 19.43%, respectively. The prevalence ranged from 1.77% to 2.56% for MSS in four departments and from 20.5% to 25.8% for the sickle cell trait in six other departments. Conclusion. Data on homozygous sickle cell disease remain consistent with previous studies. However, further studies should clarify the molecular anomalies of the variants observed in our samples.

show abstract

Section: Discussionmentioning

confidence: 99%

Neonatal Screening for Sickle Cell Disease in Congo

Dokékias

Gokaba

Louokdom³

et al. 2022

Anemia

View full text Add to dashboard Cite

show abstract

“…The prevalence of heterozygotes was 4.7% (1:27) [23]. In a study carried out in Santa Catarina, Ellen et al reported a sickle cell trait frequency of 0.8% among 730,412 children [24].…”

Section: Discussionmentioning

confidence: 99%

Sickle Cell Anaemia Prevalence among Newborns in the Brazilian Amazon-Savanna Transition Region

Souza¹,

Neto

Santos

et al. 2019

IJERPH

View full text Add to dashboard Cite

Sickle cell anaemia is one of the most common hemoglobinopathies worldwide and an important public health problem in Brazil. This study evaluated the prevalence of sickle cell anaemia and its traits in newborns from the Amazon-Savanna Transition Region in the state of Maranhão, Brazil. A cross-sectional study was carried out, based on data from neonatal screening tests performed in 2013–2015 in Maranhão. The Hardy-Weinberg theorem was applied to analyse the frequency of expected homozygotes based on HbSS phenotype. A spatial-temporal distribution analysis was performed to delimit the regions with the greatest number of newborn cases with sickle cell anaemia. Of 283,003 newborns, 162 were found to have sickle cell anaemia, while 10,794 had a sickle cell trait, with a prevalence of 0.05% and 3.8%, respectively. The prevalence of expected homozygotes was higher in the North Region and in the state capital of Maranhão. This study may contribute to existing social and public health actions or the creation of new strategies for sickle cell disease in endemic areas in Brazil to improve the quality of life.

show abstract

“…This article aims to review the relationship between sickle cell disease and the protection it generates in malaria infection, in addition to exposing the pathophysiology, treatment and mechanism of resistance of malaria in sickle cell disease patients to achieve a broader understanding of the disease Key words: Malaria; Anemia, Sickle Cell; Hemoglobin, Sickle. (MeSH) es la enfermedad hematológica hereditaria más común con una distribución heterogénea, siendo frecuentemente encontrada en la población con ascendencia africana (12,13). El genotipo predominante es el homocigoto (HbSS) (14).…”

Section: Epidemiologíaunclassified

“…Las manifestaciones clínicas de la ECF son variadas y dependen de la gravedad y el tiempo de evolución de la misma. Los pacientes heterocigotos para la HbS (HbAS) generalmente son asintomáticos, a diferencia de los homocigotos o en combinación con otra hemoglobina anómala (12,13,16). La principal manifestación de esta enfermedad son las llamadas crisis drepanocíticas, las cuales se caracterizan por crisis vasooclusivas, dolorosas y recurrentes (30).…”

Section: Características Clínicasunclassified

Anemia falciforme y la resistencia a la malaria. Revisión narrativa

Isaza

Herrera-Almanza

Hernández-Martínez

et al. 2020

Rev. Fac. Cienc. Salud Univ. Cauca

View full text Add to dashboard Cite

La enfermedad de células falciformes (SCD, por sus siglas en inglés) es una hemoglobinopatía autosómica recesiva, producida por la mutación del gen de la cadena β-globina que genera la sustitución de valina por el ácido glutámico en la posición del sexto aminoácido de la hemoglobina. Existen diversos mecanismos moleculares y celulares por los cuales se explica su fisiopatología y gracias a su actual entendimiento, se encuentran en investigación clínica y preclínica nuevos agentes farmacológicos. La hemoglobina falciforme (HbS), que es la consecuencia de dicha mutación, se relaciona como una forma de protección contra la malaria en los heterocigotos; sin embargo, el estado homocigoto (HbSS) puede estar asociado con una mayor susceptibilidad a la malaria. Dicha relación de protección en heterocigotos se evidencia en niveles más bajos de parasitemia y de aparición más tardía, lo que se ha tratado de explicar por diversas teorías. Por tanto, este artículo tiene como objetivo revisar la relación entre la SCD y la protección que genera en infección por malaria, además de exponer la fisiopatología y el tratamiento de la SCD para lograr un entendimiento más amplio de la enfermedad.

show abstract

Evaluation of a neonatal screening program for sickle-cell disease

Cited by 8 publications

References 12 publications

Neonatal Screening for Sickle Cell Disease in Congo

Neonatal Screening for Sickle Cell Disease in Congo

Sickle Cell Anaemia Prevalence among Newborns in the Brazilian Amazon-Savanna Transition Region

Anemia falciforme y la resistencia a la malaria. Revisión narrativa

Contact Info

Product

Resources

About