Using dried blood spot on HemoTypeSC™, a new frontier for newborn screening for sickle cell disease in Nigeria

Okeke, Chinwe O.; Chianumba, Reuben; Isa, Hezekiah; Asala, Samuel; Nnodu, Obiageli

doi:10.3389/fgene.2022.1013858

Cited by 11 publications

(9 citation statements)

References 24 publications

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“…Instrumental platforms typically used for such purposes as mentioned in the introduction (e.g., CE, HPLC, or MS/MS) are usually complex and costly. However, in this respect, qPCR-based primary screening for HbS alleles and thus reducing the sample size to a group of specimens relevant to further investigations might be a promising approach to open SCD screening to less complicated and/or inexpensive methods, such as chip-based microelectrophoresis, aqueous multi-phase systems based on cell density measurements, lateral flow immunoassays, or even classical electrophoresis [23,[36][37][38].…”

Section: Plos Onementioning

confidence: 99%

A high-throughput newborn screening approach for SCID, SMA, and SCD combining multiplex qPCR and tandem mass spectrometry

Tesorero

Janda²,

Hörster³

et al. 2023

PLoS ONE

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Early diagnosis of severe combined immunodeficiency (SCID), spinal muscular atrophy (SMA), and sickle cell disease (SCD) improves health outcomes by providing a specific treatment before the onset of symptoms. A high-throughput nucleic acid-based method in newborn screening (NBS) has been shown to be fast and cost-effective in the early detection of these diseases. Screening for SCD has been included in Germany’s NBS Program since Fall 2021 and typically requires high-throughput NBS laboratories to adopt analytical platforms that are demanding in terms of instrumentation and personnel. Thus, we developed a combined approach applying a multiplexed quantitative real-time PCR (qPCR) assay for simultaneous SCID, SMA, and 1st-tier SCD screening, followed by a tandem mass spectrometry (MS/MS) assay for 2nd-tier SCD screening. DNA is extracted from a 3.2-mm dried blood spot from which we simultaneously quantify T-cell receptor excision circles for SCID screening, identify the homozygous SMN1 exon 7 deletion for SMA screening, and determine the integrity of the DNA extraction through the quantification of a housekeeping gene. In our two-tier SCD screening strategy, our multiplex qPCR identifies samples carrying the HBB: c.20A>T allele that is coding for sickle cell hemoglobin (HbS). Subsequently, the 2nd tier MS/MS assay is used to distinguish heterozygous HbS/A carriers from samples of patients with homozygous or compound heterozygous SCD. Between July 2021 and March 2022, 96,015 samples were screened by applying the newly implemented assay. The screening revealed two positive SCID cases, while 14 newborns with SMA were detected. Concurrently, the qPCR assay registered HbS in 431 samples which were submitted to 2nd-tier SCD screening, resulting in 17 HbS/S, five HbS/C, and two HbS/β thalassemia patients. The results of our quadruplex qPCR assay demonstrate a cost-effective and fast approach for a combined screening of three diseases that benefit from nucleic-acid based methods in high-throughput NBS laboratories.

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Section: Plos Onementioning

confidence: 99%

A high-throughput newborn screening approach for SCID, SMA, and SCD combining multiplex qPCR and tandem mass spectrometry

Tesorero

Janda²,

Hörster³

et al. 2023

PLoS ONE

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“…A study by Olatunya et al, 2021 found that HemotypeSC had perfect concordance with PCR and 100% accuracy in diagnosing SCD, while Nnodu et al, 2019 reported a sensitivity of 93.4% and a speci city of 99.9% for SCD (26,33). In addition, Okeke, 2022 further demonstrated the feasibility of using dried blood spots with HemotypeSC, with a sensitivity and speci city of 100% compared to the standard test (31). A further study by Adegoke et al 2022,(34) also found high sensitivity of HemotypeSC when compared to alkaline cellulose acetate hemoglobin electrophoresis.…”

Section: Introductionmentioning

confidence: 99%

Determination of birth prevalence of sickle cell disease using point of care test HemoTypeSC TM at Rundu hospital, Namibia

Mano,

Kuona,

Misihairabgwi

2023

Preprint

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Background: Sickle cell disease (SCD), a non-communicable disease has its highest burden in Sub Saharan Africa. The majority of children (50-90%), with SCD die before their 5th birthday with approximately 150,000–300,000 annual SCD child deaths in Africa. In developed countries, newborn screening (NBS) has been shown to improve survival of children with sickle cell disease with under 5 childhood mortality reduced 10 fold due to interventions done before development of complications. Point of care tests have been developed for resource limited settings to expand newborn screening. The aim of the study was to determine the birth prevalence of sickle cell disease using the point of care test HemoTypeSC in Namibia. Methods: A cross sectional descriptive study was carried out at Rundu Intermediate hospital in Kavango East Region. Two hundred and two (202) well newborns within 72 hours of birth were recruited in the study from 22 of February to the 28th of March 2023. Descriptive statistics was used to compute the hemoglobin types of the study participants. Results: The majority of the participants (n=105) (52%) were females and (n= 97) ,(48%) males. The median age of the participants was 23 hours interquartile range (IQR), (11-33 hours) with the age range of 2-98 hours. One hundred and eight three (183) ( 90.6%) had normal haemoglobin HbAA; 19 (9.4%) sickle cell trait (HbAS) and no participant was found to have sickle cell disease (HbSS). Conclusions: The study is the first to carry out birth prevalence for SCD and sickle cell trait as well as the first application of HemotypeSC as screening method in Namibia. There was a high prevalence of sickle cell trait but no SCD. This is a baseline study that can inform policy on the possible adoption of sickle cell disease newborn screening in Namibia.

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“… 16 Two of these POC tests, Sickle SCAN and HemoTypeSC, have demonstrated promise and accuracy in high- and low-resource settings and are now being distributed across Africa. 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 These 2 POC tests have not yet been compared directly to one another in a real-world setting and there remains a debate as to whether either of these tests can serve as a standalone diagnostic method for screening infants and newborns in the high prevalence regions of sub-Saharan Africa. In this study, we aimed to evaluate and compare the accuracy of Sickle SCAN and HemoTypeSC with the gold standard IEF as primary diagnostic methods to screen newborns and young infants in Luanda, Angola.…”

Section: Introductionmentioning

confidence: 99%

Early diagnosis of sickle cell disease at birth hospitals and vaccination centers in Angola using point-of-care tests

Olaniyan

Briscoe²,

Muhongo³

et al. 2023

Blood Advances

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Sickle cell disease (SCD) is a life-threatening blood disorder affecting >300,000 infants annually, mostly in sub-Saharan Africa. Most infants do not have access to an early diagnosis and die early from treatable complications of SCD. Universal NBS is not yet available in any African country for a variety of reasons, including lack of laboratory capacity, difficulty in tracking affected infants, and the relatively short stay of mothers and newborns at maternity hospitals. Several point-of-care (POC) tests for SCD have been recently developed and validated, but the two most well-established tests (Sickle SCAN and HemoTypeSC) have not been rigorously compared to one another. In this study, we aimed to evaluate and compare these two POC tests to screen infants ≤6 months of age in Luanda, Angola. Challenging the traditional NBS paradigm, we performed testing not only at maternity centers, but also at vaccination centers across Luanda. We enrolled 2,000 babies and performed 1,000 tests with each POC test. Both tests demonstrated diagnostic accuracy, with 98.3% of Sickle SCAN results and 95.3% of HemoTypeSC results aligning with the gold standard isoelectric focusing hemoglobin pattern. When the result was provided at the POC, 92% of infants were linked to SCD care compared to 56% in the pilot Angolan NBS program, which used centralized laboratory testing. This study demonstrates the real-world feasibility and accuracy of POC tests to screen infants for SCD in Angola. This study also suggests that including vaccination centers may improve the capture rate for early infant SCD screening programs.

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Using dried blood spot on HemoTypeSC™, a new frontier for newborn screening for sickle cell disease in Nigeria

Cited by 11 publications

References 24 publications

A high-throughput newborn screening approach for SCID, SMA, and SCD combining multiplex qPCR and tandem mass spectrometry

A high-throughput newborn screening approach for SCID, SMA, and SCD combining multiplex qPCR and tandem mass spectrometry

Determination of birth prevalence of sickle cell disease using point of care test HemoTypeSC TM at Rundu hospital, Namibia

Early diagnosis of sickle cell disease at birth hospitals and vaccination centers in Angola using point-of-care tests

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