Prospective Newborn Screening for Sickle Cell Disease and Other Inherited Blood Disorders in Central Malawi

Tegha, Gerald; Topazian, Hillary M.; Kamthunzi, Portia; Howard, Thad A.; Tembo, Zondwayo; Mvalo, Tisungane; Chome, Nelecy; Kumwenda, Wiza; Mkochi, Tawonga; Hernandez, Arielle G.; Ataga, Kenneth I.; Hoffman, Irving; Ware, Russell E.

doi:10.3389/ijph.2021.629338

Cited by 9 publications

(7 citation statements)

References 42 publications

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“…Hence, future studies must include the study of more developing African countries or other countries with higher child mortality rates. Other non-nutritional factors including sickle cell disease, alpha thalassemia, and parasitic infections can aggravate the anaemia of malnutrition and iron deficiency and affect growth [ 35 , 36 ]. Thus, future studies need to incorporate these factors into the future models as a part of exploring other avenues to intervene in an attempt to reduce anaemia.…”

Section: Discussionmentioning

confidence: 99%

Copula Geo-Additive Modeling of Anaemia and Malnutrition among Children under Five Years in Angola, Senegal, and Malawi

Khulu

Ramroop

Habyarimana

2022

IJERPH

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Notwithstanding the interventions implemented to address child mortality, anaemia and malnutrition remain a concern for the future of developing countries. Anaemia and malnutrition contribute a high proportion of the causes of childhood morbidity in Africa. The objective of this study is to jointly model anaemia and malnutrition using a copula geo-additive model. This study is a secondary data analysis where a Demographic and Health Survey of 2016 data from Angola, Malawi, and Senegal was used. The descriptive analysis was conducted in SPSS and the copula geo-additive model analysis was performed in R 3.63. The results showed that female children are notably associated with anaemia and a malnourished status (female estimate = 0.144, p-value = 0.027 for anaemia; female estimate = −0.105, p-value = 000 for malnutrition). The probability of each result decreased with an improvement in the mother’s level of schooling. This indicates an urgent requirement for interventions to be implemented by policymakers in order to manage children’s mortality rates. These interventions can include the introduction of educational programs for older adults, children’s dietary programs, and income generation initiatives (starting a small business, etc.). It is hoped that this paper can foster the utilization of copula methodology in this field of science with the use of cross-sectional data.

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Section: Discussionmentioning

confidence: 99%

Copula Geo-Additive Modeling of Anaemia and Malnutrition among Children under Five Years in Angola, Senegal, and Malawi

Khulu

Ramroop

Habyarimana

2022

IJERPH

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“…SCD is associated with unacceptable morbidity and mortality rates in the absence of diagnosis and care. 4,11 Several pilot programmes for NBS for SCD have been initiated in sub-Saharan Africa, [28][29][30] later in the neonatal period 23,31 or in older children 22,32 and raised major challenges with missed opportunities in reaching reliably the targeted affected population. 23,33,34 Because SCD is prevalent in these resourcelimited countries, simple, inexpensive RDTs offer new opportunities particularly in new-borns to improve SCD diagnosis and survival, if combined with appropriate care.…”

Section: Highmentioning

confidence: 99%

“…Several SCD screening programmes were launched in Africa for infants alongside immunization programmes using RDTs on dried blood spots from heel stick samples. [22][23][24] To our knowledge, no study has specifically assessed their diagnostic performances using cord blood.…”

Section: Introductionmentioning

confidence: 99%

“…Furthermore, the neonatal period, characterized by high blood fetal haemoglobin concentrations, constitutes a diagnostic challenge. Several SCD screening programmes were launched in Africa for infants alongside immunization programmes using RDTs on dried blood spots from heel stick samples 22–24 . To our knowledge, no study has specifically assessed their diagnostic performances using cord blood.…”

Section: Introductionmentioning

confidence: 99%

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Potential for a large‐scale newborn screening strategy for sickle cell disease in Mali: A comparative diagnostic performance study of two rapid diagnostic tests (SickleScan® and HemotypeSC®) on cord blood

Guindo,

Cisse,

Keita

et al. 2023

Br J Haematol

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SummarySickle cell disease (SCD) is a life‐threatening disease requiring reliable early diagnosis. We assessed the acceptability and diagnostic performances of two rapid diagnostic tests (RDTs) to identify SCD (HbSS, HbSC, HbS/β‐thalassaemia) or SCD carrier (HbS/HbC) in a pilot SCD newborn screening (NBS) strategy in Mali. All consenting delivering women were offered SCD NBS using cord blood sampling on two RDTs (SickleScan® and HemotypeSC®) compared to the high‐performance liquid chromatography (HPLC) gold standard to detect SCD states. From April 2021 to August 2021, 4333 delivering women were eligible of whom 96.1% were offered NBS: 1.6% refused, 13.8% delivered before consenting and 84.6% consented; 3648 newborns were diagnosed by HPLC; 1.64% had SCD (0.63% HbSS, 0.85% HbSC, 0.16 HbS/β‐plus‐thalassaemia); 21.79% were SCD carrier. To detect accurately SCD, SickleScan® had a sensitivity of 81.67% (95% confidence interval [CI]: 71.88–91.46) and a negative predictive value (NPV) of 99.69% (95% CI: 99.51–99.87); HemotypeSC® had a sensitivity of 78.33% (95% CI: 67.91–88.76) and a NPV of 99.64% (95% CI: 99.44–99.83). To detect SCD carrier: SickleScan® sensitivity was 96.10% (95% CI: 94.75–97.45) and NPV, 98.90% (95% CI: 98.51–99.29); HemotypeSC® sensitivity was 95.22% (95% CI: 93.74–96.70) and NPV, 98.66% (95% CI: 98.24–99.03). Routine SCD NBS was acceptable. Compared with HPLC, both RDTs had reliable diagnostic performances to exclude SCD‐free newborns and to identify SCD carriers to be further confirmed. This strategy could be implemented in large‐scale NBS programmes.

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“…Sickle cell anemia (SCA) is a disease in which hemoglobin S exists in a homozygous state, with prominent clinical features and a wide range of phenotypes [1]. In sub-Saharan Africa, it is very prevalent, affecting 1-4% of newborns [2]. It is also very prevalent in India, the Middle East and the Mediterranean.…”

Section: Introductionmentioning

confidence: 99%

Evaluation of the Serum Status of E-Selectin and Its Correlation with Disease Severity among Steady State Patients with Sickle Cell Anaemia

Onochie

Chide

Benedette

et al. 2022

JAMMR

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Introduction: Sickle cell anemia (SCA) is a disease in which hemoglobin S exists in a homozygous state, with prominent clinical features and a wide range of phenotypes. This study aimed to determine the levels of E-selectin and how it correlated with the severity of disease in sickle cell anemia patients. Methodology: This was a comparative cross-sectional study. Socio-demographic characteristics, full blood count, body mass index and serum E-selectin levels of patients with Sickle cell anemia (HbSS) in steady state as well as age and sex-matched controls of HbAA of HbAS phenotype were obtained. Results: Ninety individuals participated in the study and were made up of 30 HbSS, 30 HbAS and 30 HbAA subjects with age range of 10 to 50 years and mean age of 27.3 ±6 years, 27.1 ±6years and 26 ± 6 years respectively. Mean E-selectin level in patients with HbSS was 434.3 ±306ng/l which was significantly higher than those of HbAS and HbAA with mean value of 203.4 ±120ng/l and 238.9 ±171ng/l respectively (p<0.05). There was a positive correlation between mean level of E-selectin with disease severity among patients with HbSS, although it was not significant statistically Conclusion: E-selectin level was significantly higher in patients with HbSS when compared to the control group (HbAA and HbAS). However, the positive correlation of E-selectin with disease severity in patients with HbSS, did not reach statistical significance. Further studies should be carried out on a wider scale to determine the actual effect of E-Selectin as a biomarker for early detection of disease severity in patients with HbSS.

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Prospective Newborn Screening for Sickle Cell Disease and Other Inherited Blood Disorders in Central Malawi

Cited by 9 publications

References 42 publications

Copula Geo-Additive Modeling of Anaemia and Malnutrition among Children under Five Years in Angola, Senegal, and Malawi

Copula Geo-Additive Modeling of Anaemia and Malnutrition among Children under Five Years in Angola, Senegal, and Malawi

Potential for a large‐scale newborn screening strategy for sickle cell disease in Mali: A comparative diagnostic performance study of two rapid diagnostic tests (SickleScan® and HemotypeSC®) on cord blood

Evaluation of the Serum Status of E-Selectin and Its Correlation with Disease Severity among Steady State Patients with Sickle Cell Anaemia

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