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Molecular heterogeneity of β‐thalassemia variants in the Eastern region of Morocco

BACKGROUND: β‐thalassemia syndromes are the most common hereditary blood disorders in the world and are recognized as a major health problem in Morocco. They are characterized by the reduction or the absence of β‐globin chain synthesis. The severity of the disease depends on the nature of the varian...

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Autores principales: Belmokhtar, Ihab, Lhousni, Saida, Elidrissi Errahhali, Mounia, Ghanam, Ayad, Elidrissi Errahhali, Manal, Sidqi, Zaina, Ouarzane, Meryem, Charif, Majida, Bellaoui, Mohammed, Boulouiz, Redouane, Benajiba, Noufissa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9356555/
https://www.ncbi.nlm.nih.gov/pubmed/35615994
http://dx.doi.org/10.1002/mgg3.1970
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author Belmokhtar, Ihab
Lhousni, Saida
Elidrissi Errahhali, Mounia
Ghanam, Ayad
Elidrissi Errahhali, Manal
Sidqi, Zaina
Ouarzane, Meryem
Charif, Majida
Bellaoui, Mohammed
Boulouiz, Redouane
Benajiba, Noufissa
author_facet Belmokhtar, Ihab
Lhousni, Saida
Elidrissi Errahhali, Mounia
Ghanam, Ayad
Elidrissi Errahhali, Manal
Sidqi, Zaina
Ouarzane, Meryem
Charif, Majida
Bellaoui, Mohammed
Boulouiz, Redouane
Benajiba, Noufissa
author_sort Belmokhtar, Ihab
collection PubMed
description BACKGROUND: β‐thalassemia syndromes are the most common hereditary blood disorders in the world and are recognized as a major health problem in Morocco. They are characterized by the reduction or the absence of β‐globin chain synthesis. The severity of the disease depends on the nature of the variants affecting the β‐globin gene (HBB), and each ethnic group has its own mutation spectrum. Hereby, we present, for the first time, the molecular profile of β‐thalassemia in the Eastern region of Morocco. METHODS: This study concerns 39 cases from 33 families who were enrolled in the BRO Biobank. Nineteen were diagnosed with β‐thalassemia major and 20 with β‐thalassemia minor. To detect mutations of the β‐globin gene, we have used RFLP‐PCR and Sanger sequencing. RESULTS: Nine known β‐thalassemia variants have been identified. Among these, we reported, for the first time in the Moroccan population, the Czechoslovakian variant C38/39(‐C) at homozygous state. The C39(C > T) was the most frequent variant (72.54%), followed by FSC5(‐CT) (5.88%), FSC6(−A), IVS‐1‐110(G > A), −29(A > G), C38/39(‐C) (3.92% each), and finally by IVS‐I‐1(G > A), IVS‐II‐1(G > A), and −56(G > C) (1.96%). Of particular interest this mutational spectrum of β‐thalassemia is very different from that found in previous studies in Morocco or in other North African countries. CONCLUSION: This study is the first contribution to the description of the molecular profile of β‐thalassemia in the Eastern region of Morocco. It shows the high molecular heterogeneity of β‐thalassemia in our country. Therefore, these results can be valuable for the implementation of carrier screening, genetic counseling, and prenatal diagnosis programs.
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spelling pubmed-93565552022-08-09 Molecular heterogeneity of β‐thalassemia variants in the Eastern region of Morocco Belmokhtar, Ihab Lhousni, Saida Elidrissi Errahhali, Mounia Ghanam, Ayad Elidrissi Errahhali, Manal Sidqi, Zaina Ouarzane, Meryem Charif, Majida Bellaoui, Mohammed Boulouiz, Redouane Benajiba, Noufissa Mol Genet Genomic Med Original Articles BACKGROUND: β‐thalassemia syndromes are the most common hereditary blood disorders in the world and are recognized as a major health problem in Morocco. They are characterized by the reduction or the absence of β‐globin chain synthesis. The severity of the disease depends on the nature of the variants affecting the β‐globin gene (HBB), and each ethnic group has its own mutation spectrum. Hereby, we present, for the first time, the molecular profile of β‐thalassemia in the Eastern region of Morocco. METHODS: This study concerns 39 cases from 33 families who were enrolled in the BRO Biobank. Nineteen were diagnosed with β‐thalassemia major and 20 with β‐thalassemia minor. To detect mutations of the β‐globin gene, we have used RFLP‐PCR and Sanger sequencing. RESULTS: Nine known β‐thalassemia variants have been identified. Among these, we reported, for the first time in the Moroccan population, the Czechoslovakian variant C38/39(‐C) at homozygous state. The C39(C > T) was the most frequent variant (72.54%), followed by FSC5(‐CT) (5.88%), FSC6(−A), IVS‐1‐110(G > A), −29(A > G), C38/39(‐C) (3.92% each), and finally by IVS‐I‐1(G > A), IVS‐II‐1(G > A), and −56(G > C) (1.96%). Of particular interest this mutational spectrum of β‐thalassemia is very different from that found in previous studies in Morocco or in other North African countries. CONCLUSION: This study is the first contribution to the description of the molecular profile of β‐thalassemia in the Eastern region of Morocco. It shows the high molecular heterogeneity of β‐thalassemia in our country. Therefore, these results can be valuable for the implementation of carrier screening, genetic counseling, and prenatal diagnosis programs. John Wiley and Sons Inc. 2022-05-26 /pmc/articles/PMC9356555/ /pubmed/35615994 http://dx.doi.org/10.1002/mgg3.1970 Text en © 2022 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Articles
Belmokhtar, Ihab
Lhousni, Saida
Elidrissi Errahhali, Mounia
Ghanam, Ayad
Elidrissi Errahhali, Manal
Sidqi, Zaina
Ouarzane, Meryem
Charif, Majida
Bellaoui, Mohammed
Boulouiz, Redouane
Benajiba, Noufissa
Molecular heterogeneity of β‐thalassemia variants in the Eastern region of Morocco
title Molecular heterogeneity of β‐thalassemia variants in the Eastern region of Morocco
title_full Molecular heterogeneity of β‐thalassemia variants in the Eastern region of Morocco
title_fullStr Molecular heterogeneity of β‐thalassemia variants in the Eastern region of Morocco
title_full_unstemmed Molecular heterogeneity of β‐thalassemia variants in the Eastern region of Morocco
title_short Molecular heterogeneity of β‐thalassemia variants in the Eastern region of Morocco
title_sort molecular heterogeneity of β‐thalassemia variants in the eastern region of morocco
topic Original Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9356555/
https://www.ncbi.nlm.nih.gov/pubmed/35615994
http://dx.doi.org/10.1002/mgg3.1970
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