Screening for sickle cell disease in newborns: a systematic review

Runkel, B.; Klüppelholz, Birgit; Rummer, Anne; Sieben, Wiebke; Lampert, Ulrike; Bollig, Claudia; Markes, Martina; Paschen, Ulrike; Angelescu, Konstanze

doi:10.1186/s13643-020-01504-5

Cited by 15 publications

(11 citation statements)

References 31 publications

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“…This investigation discovered changes in hematological parameters, primarily among SCA patients, due to Hb abnormalities, recurrent infection-induced hemolytic processes, and coagulopathy. 11 MCV and RDW were both significantly increased in SCA patients compared with the national norm. MCV was higher in the majority of patients with the HbSS and HbAS genotypes, which could be attributable to enhanced hemolysis.…”

Section: Discussionmentioning

confidence: 75%

Hematological and molecular analyses of the HbS allele among the Sudanese population

et al. 2022

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Objective The purpose of this study was to perform hematological and molecular analyses of the HbS allele of the hemoglobin subunit beta gene in the Sudanese population. Methods This was a descriptive cross-sectional study. Hematological parameters and fetal hemoglobin (HbF) levels were assessed in all participants. Data were gathered through the use of questionnaires and laboratory investigations. The βS-globin haplotypes, S allele distributions, and hematological parameters with HbF levels were investigated using PCR-restriction fragment length polymorphism, gel electrophoresis, and a Sysmex hematology analyzer, respectively. Results According to our findings, the Bantu (BA) haplotype was found in 10.8% of participants with homozygous uncontested haplotypes, followed by Benin (BA) and Sudan (SU), each in 9.8% of participants. This Sudanese group from Northern Kordofan lacked the Arab-Indian haplotype. Two heterozygous versions of undisputed haplotypes were found in 17.3% of participants: SU/BA in 10.8% and CA/BE in 6.5%. Conclusion As a result of sickle cell anemia, this investigation found changes in hematological parameters. In the Sudanese population, a new haplotype of the S gene was discovered.

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Section: Discussionmentioning

confidence: 75%

Hematological and molecular analyses of the HbS allele among the Sudanese population

et al. 2022

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“…A study in the United States identified a reduction in the mortality rate of children and adolescents from 1983 to 2002, more pronounced among children under three years of age (68% reduction, 95%CI: 58; 75) and progressively lower in children aged 4-14 years 22 . Although the authors had attributed this reduction to the universal access to the newborn screening programs for hemoglobinopathies and the prophylactic penicillin, only one retrospective cohort study conducted in Jamaica provided robust evidence on the performance of newborn screening, followed by measures to prevent infection and orient parents about the disease 38,39 .…”

Section: Discussionmentioning

confidence: 99%

Social inequalities in the temporal trend of mortality from sickle cell disease in Brazil, 1996-2019

et al. 2023

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Contrary to international trends, the mortality rate of sickle cell disease increased in Brazil after the implementation of the neonatal screening program, probably due to improving access to diagnosis. This study aimed to assess differences in the temporal trend of the mortality rate and median age at death from sickle cell disease in Brazil, considering implemented measures to expand diagnosis, and improve health care access in-country and in the international scenario. Time series were extracted from the Brazilian Mortality Information System from 1996 to 2019. Changes in the mortality rate and median age at death were verified via segmented regression models, which were stratified by sex, region of residence, and age. Most deaths occurred in non-white people, young adults, and the Southeast and Northeast population. Sickle cell disease mortality rate increased until 2010 (13.31%; 95%CI: 6.37; 20.70), particularly in individuals aged 30 years or more (12.78%; 95%CI: 2.98; 23.53) and in the Northeast (12.27%; 95%CI: 8.92; 15.72). Most deaths occurred in the second decade of life (3.01 deaths/million), with a 59% increase in the median age of death in Brazil, from 27.6 to 30.3 years, more pronounced in females and the North Region. The observed gain in the survival of sickle cell disease in Brazil is still much lower than in developed countries and presents regional disparities, probably due to the lack of access to health care and recent treatments, such as hydroxyurea, still restricted to hematological referral centers in Brazilian capitals.

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“…Newborn screening (NBS) coupled with comprehensive care is proven to reduce mortality and morbidity caused by SCD (18)(19)(20). Unfortunately, most African countries have not been able to establish national NBS programs due to various reasons including cost and limited human and logistical resources (21).…”

Section: Discussionmentioning

confidence: 99%

Building research capacity for sickle cell disease in Africa: Lessons and challenges from establishing a birth cohort in Tanzania

et al. 2022

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Sickle Cell Disease (SCD) is a known public health burden in sub-Saharan Africa (SSA). The manifestation of SCD starts in early childhood and if not well-managed may lead to early death (before the age of 5 years). Understanding the underlying mechanisms that influence early SCD manifestation is of great importance for early disease and intervention management which will in turn, reduce both morbidity and mortality rates in children. One approach of achieving this is by establishing SCD birth cohorts that can be followed for a period of time (3–5 years) whilst documenting necessary information related to early childhood illnesses. To date, there are few SCD birth cohorts in Africa. To address this gap, we have established a birth cohort of babies with and without SCD (with sickle cell trait and healthy babies). These babies are followed up for 3 years with their study visits synchronized to the immunization schedule. During enrollment and follow-up visits, information on demographic, clinical, and laboratory parameters are collected. To date, we have enrolled a total of 341 babies with and without SCD. Out of these, a total of 311, 186, 133, 81, 44, and 16 babies have returned for their 1st, 2nd, 3rd, 4th, 5th, and 6th visits, respectively. We have collected both demographic and clinical information for these babies at enrollment and during follow-up. We have also utilized this platform to learn on the best approaches of establishing and maintaining a research birth cohort in an African context. We have analyzed the practical issues pertaining to the integration of the birth cohort with the immunization platform which seems to be the most effective and sustainable strategy for maintaining a birth cohort in our context.

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Screening for sickle cell disease in newborns: a systematic review

Cited by 15 publications

References 31 publications

Hematological and molecular analyses of the HbS allele among the Sudanese population

Hematological and molecular analyses of the HbS allele among the Sudanese population

Social inequalities in the temporal trend of mortality from sickle cell disease in Brazil, 1996-2019

Building research capacity for sickle cell disease in Africa: Lessons and challenges from establishing a birth cohort in Tanzania

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