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Techniques for the Detection of Sickle Cell Disease: A Review

Sickle cell disease (SCD) is a widespread disease caused by a mutation in the beta-globin gene that leads to the production of abnormal hemoglobin called hemoglobin S. The inheritance of the mutation could be homozygous or heterozygous combined with another hemoglobin mutation. SCD can be characteri...

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Autores principales: Arishi, Wjdan A., Alhadrami, Hani A., Zourob, Mohammed
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8148117/
https://www.ncbi.nlm.nih.gov/pubmed/34063111
http://dx.doi.org/10.3390/mi12050519
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author Arishi, Wjdan A.
Alhadrami, Hani A.
Zourob, Mohammed
author_facet Arishi, Wjdan A.
Alhadrami, Hani A.
Zourob, Mohammed
author_sort Arishi, Wjdan A.
collection PubMed
description Sickle cell disease (SCD) is a widespread disease caused by a mutation in the beta-globin gene that leads to the production of abnormal hemoglobin called hemoglobin S. The inheritance of the mutation could be homozygous or heterozygous combined with another hemoglobin mutation. SCD can be characterized by the presence of dense, sickled cells that causes hemolysis of blood cells, anemia, painful episodes, organ damage, and in some cases death. Early detection of SCD can help to reduce the mortality and manage the disease effectively. Therefore, different techniques have been developed to detect the sickle cell disease and the carrier states with high sensitivity and specificity. These techniques can be screening tests such as complete blood count, peripheral blood smears, and sickling test; confirmatory tests such as hemoglobin separation techniques; and genetic tests, which are more expensive and need to be done in centralized labs by highly skilled personnel. However, advanced portable point of care techniques have been developed to provide a low-cost, simple, and user-friendly device for detecting SCD, for instance coupling solubility tests with portable devices, using smartphone microscopic classifications, image processing techniques, rapid immunoassays, and sensor-based platforms. This review provides an overview of the current and emerging techniques for sickle cell disease detection and highlights the different potential methods that could be applied to help the early diagnosis of SCD.
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spelling pubmed-81481172021-05-26 Techniques for the Detection of Sickle Cell Disease: A Review Arishi, Wjdan A. Alhadrami, Hani A. Zourob, Mohammed Micromachines (Basel) Review Sickle cell disease (SCD) is a widespread disease caused by a mutation in the beta-globin gene that leads to the production of abnormal hemoglobin called hemoglobin S. The inheritance of the mutation could be homozygous or heterozygous combined with another hemoglobin mutation. SCD can be characterized by the presence of dense, sickled cells that causes hemolysis of blood cells, anemia, painful episodes, organ damage, and in some cases death. Early detection of SCD can help to reduce the mortality and manage the disease effectively. Therefore, different techniques have been developed to detect the sickle cell disease and the carrier states with high sensitivity and specificity. These techniques can be screening tests such as complete blood count, peripheral blood smears, and sickling test; confirmatory tests such as hemoglobin separation techniques; and genetic tests, which are more expensive and need to be done in centralized labs by highly skilled personnel. However, advanced portable point of care techniques have been developed to provide a low-cost, simple, and user-friendly device for detecting SCD, for instance coupling solubility tests with portable devices, using smartphone microscopic classifications, image processing techniques, rapid immunoassays, and sensor-based platforms. This review provides an overview of the current and emerging techniques for sickle cell disease detection and highlights the different potential methods that could be applied to help the early diagnosis of SCD. MDPI 2021-05-05 /pmc/articles/PMC8148117/ /pubmed/34063111 http://dx.doi.org/10.3390/mi12050519 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Arishi, Wjdan A.
Alhadrami, Hani A.
Zourob, Mohammed
Techniques for the Detection of Sickle Cell Disease: A Review
title Techniques for the Detection of Sickle Cell Disease: A Review
title_full Techniques for the Detection of Sickle Cell Disease: A Review
title_fullStr Techniques for the Detection of Sickle Cell Disease: A Review
title_full_unstemmed Techniques for the Detection of Sickle Cell Disease: A Review
title_short Techniques for the Detection of Sickle Cell Disease: A Review
title_sort techniques for the detection of sickle cell disease: a review
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8148117/
https://www.ncbi.nlm.nih.gov/pubmed/34063111
http://dx.doi.org/10.3390/mi12050519
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