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

Background: HemoTypeSC is a rapid, point-of-care testing (POCT) device for sickle cell disease (SCD) that traditionally uses the capillary blood from heel stick collected at the point of testing, a procedure that makes mass screening cumbersome and less cost-effective. Using dried blood spots (DBS)...

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Autores principales: Okeke, Chinwe O., Chianumba, Reuben I., Isa, Hezekiah, Asala, Samuel, Nnodu, Obiageli E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9644131/
https://www.ncbi.nlm.nih.gov/pubmed/36386848
http://dx.doi.org/10.3389/fgene.2022.1013858
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author Okeke, Chinwe O.
Chianumba, Reuben I.
Isa, Hezekiah
Asala, Samuel
Nnodu, Obiageli E.
author_facet Okeke, Chinwe O.
Chianumba, Reuben I.
Isa, Hezekiah
Asala, Samuel
Nnodu, Obiageli E.
author_sort Okeke, Chinwe O.
collection PubMed
description Background: HemoTypeSC is a rapid, point-of-care testing (POCT) device for sickle cell disease (SCD) that traditionally uses the capillary blood from heel stick collected at the point of testing, a procedure that makes mass screening cumbersome and less cost-effective. Using dried blood spots (DBS) on HemoTypeSC could mitigate this challenge. Therefore, this study aimed to determine the feasibility of eluting blood from DBS to read on HemoTypeSC. Methods: DBS and fresh samples from heel sticks were collected from 511 newborns at the immunization clinics of six Primary Health Centers in Abuja, Nigeria. The two samples from each newborn were analyzed using HemoType SC and then compared with the result of the isoelectric focusing (IEF) test. Results: Of the 511 newborns, 241 were males and 270 were females. Standard HemoTypeSC (using fresh samples collected from heel sticks) and HemoTypeSC using DBS identified 404 (79.0%) HbAA, 100 (19.6%) HbAS, 6 (1.2%) HbSS, and 1 (0.2%) HbAC phenotypes. The IEF tests identified 370 (72.4%) HbAA, 133 (26.0%) HbAS, 5 (1.0%) HbSS, and 3 (0.6%) HbAC phenotypes. The sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV) and overall accuracy of HemoTypeSC using DBS, compared to standard HemoTypeSC POCT was 100%. IEF method showed for AA, AS, AC phenotypes; sensitivity; 84.7%, 67%,100% respectively, specificity; 67.6%, 86%, 99% respectively, PPV; 91.2%, 53%, 50% respectively, NPV; 52.7%, 91%, 100% respectively. For SS phenotype, IEF showed 100% specificity, sensitivity, PPV and NPV. Conclusion: HemoTypeSC test using dried blood spot is as accurate as the standard point-of-care HemoTypeSC test. The use of DBS on HemoTypeSC could ensure better efficiency and cost-effectiveness in mass newborn screening for SCD.
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spelling pubmed-96441312022-11-15 Using dried blood spot on HemoTypeSC™, a new frontier for newborn screening for sickle cell disease in Nigeria Okeke, Chinwe O. Chianumba, Reuben I. Isa, Hezekiah Asala, Samuel Nnodu, Obiageli E. Front Genet Genetics Background: HemoTypeSC is a rapid, point-of-care testing (POCT) device for sickle cell disease (SCD) that traditionally uses the capillary blood from heel stick collected at the point of testing, a procedure that makes mass screening cumbersome and less cost-effective. Using dried blood spots (DBS) on HemoTypeSC could mitigate this challenge. Therefore, this study aimed to determine the feasibility of eluting blood from DBS to read on HemoTypeSC. Methods: DBS and fresh samples from heel sticks were collected from 511 newborns at the immunization clinics of six Primary Health Centers in Abuja, Nigeria. The two samples from each newborn were analyzed using HemoType SC and then compared with the result of the isoelectric focusing (IEF) test. Results: Of the 511 newborns, 241 were males and 270 were females. Standard HemoTypeSC (using fresh samples collected from heel sticks) and HemoTypeSC using DBS identified 404 (79.0%) HbAA, 100 (19.6%) HbAS, 6 (1.2%) HbSS, and 1 (0.2%) HbAC phenotypes. The IEF tests identified 370 (72.4%) HbAA, 133 (26.0%) HbAS, 5 (1.0%) HbSS, and 3 (0.6%) HbAC phenotypes. The sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV) and overall accuracy of HemoTypeSC using DBS, compared to standard HemoTypeSC POCT was 100%. IEF method showed for AA, AS, AC phenotypes; sensitivity; 84.7%, 67%,100% respectively, specificity; 67.6%, 86%, 99% respectively, PPV; 91.2%, 53%, 50% respectively, NPV; 52.7%, 91%, 100% respectively. For SS phenotype, IEF showed 100% specificity, sensitivity, PPV and NPV. Conclusion: HemoTypeSC test using dried blood spot is as accurate as the standard point-of-care HemoTypeSC test. The use of DBS on HemoTypeSC could ensure better efficiency and cost-effectiveness in mass newborn screening for SCD. Frontiers Media S.A. 2022-10-26 /pmc/articles/PMC9644131/ /pubmed/36386848 http://dx.doi.org/10.3389/fgene.2022.1013858 Text en Copyright © 2022 Okeke, Chianumba, Isa, Asala and Nnodu. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Genetics
Okeke, Chinwe O.
Chianumba, Reuben I.
Isa, Hezekiah
Asala, Samuel
Nnodu, Obiageli E.
Using dried blood spot on HemoTypeSC™, a new frontier for newborn screening for sickle cell disease in Nigeria
title Using dried blood spot on HemoTypeSC™, a new frontier for newborn screening for sickle cell disease in Nigeria
title_full Using dried blood spot on HemoTypeSC™, a new frontier for newborn screening for sickle cell disease in Nigeria
title_fullStr Using dried blood spot on HemoTypeSC™, a new frontier for newborn screening for sickle cell disease in Nigeria
title_full_unstemmed Using dried blood spot on HemoTypeSC™, a new frontier for newborn screening for sickle cell disease in Nigeria
title_short Using dried blood spot on HemoTypeSC™, a new frontier for newborn screening for sickle cell disease in Nigeria
title_sort using dried blood spot on hemotypesc™, a new frontier for newborn screening for sickle cell disease in nigeria
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9644131/
https://www.ncbi.nlm.nih.gov/pubmed/36386848
http://dx.doi.org/10.3389/fgene.2022.1013858
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