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Carrier frequency and molecular basis of hemoglobinopathies among blood donors in eastern Morocco: Implications for blood donation and genetic diagnosis

•In Morocco, hemoglobinopathies represent a significant public health problem.•We provide for the first-time in Morocco the carrier frequency and molecular basis of hemoglobinopathies among healthy blood donors.•Our findings are valuable for the implementation of carrier screening and genetic diagno...

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Published in:Clinical biochemistry 2025-01, Vol.135, p.110840, Article 110840
Main Authors: Belmokhtar, Ihab, Belmokhtar, Karam Yahya, Lhousni, Saida, Charif, Majida, Sidqi, Zaina, Seddik, Rachid, Choukri, Mohammed, Bellaoui, Mohammed, Boulouiz, Redouane
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container_start_page 110840
container_title Clinical biochemistry
container_volume 135
creator Belmokhtar, Ihab
Belmokhtar, Karam Yahya
Lhousni, Saida
Charif, Majida
Sidqi, Zaina
Seddik, Rachid
Choukri, Mohammed
Bellaoui, Mohammed
Boulouiz, Redouane
description •In Morocco, hemoglobinopathies represent a significant public health problem.•We provide for the first-time in Morocco the carrier frequency and molecular basis of hemoglobinopathies among healthy blood donors.•Our findings are valuable for the implementation of carrier screening and genetic diagnosis for hemoglobinopathies in Morocco.•Predonation screening for hemoglobinopathies is needed to ensure blood donors’ and recipients’ safety in Morocco. Hemoglobinopathies represent the most commonly inherited autosomal recessive blood disorders in the world. The aim of this study was to determine the carrier frequency and molecular basis of hemoglobinopathies among blood donors in eastern Morocco. This is the first study of its kind for this country. Healthy blood donors of the BRO Biobank were included in this study. Blood samples were analyzed using an automatic blood cell analyzer for complete blood counts. Hemoglobin fractions were analyzed by capillary electrophoresis and serum ferritin was measured on a chemical and immunological analyzer. Suspected hemoglobinopathy carriers were further characterized by Sanger sequencing, Gap PCR and PCR-RFLP. The study involved 2013 blood donors, of whom 1063 were male and 950 were female (sex ratio male-to-female of 1.1). The median age of these donors was 35 years. The overall carrier frequency of hemoglobinopathies was 1.84 %, with β-thalassemia carriers being the most prevalent (0.65 %) followed by HbAC (0.55 %), α-thalassemia carriers (0.30 %), HbAS (0.1 %), HbAG-Philadelphia (0.1 %), HbAD-Ouled Rabah (0.05 %) and HbAO-Arab (0.05 %). Additionally, novel β-thalassemia variants (C6(−G) and −83(A > G)) and a structural variant (Hb D-Ouled Rabah) were discovered for the first time in Morocco. This study provided the first report on carrier frequency and molecular basis of hemoglobinopathies among healthy donors in Morocco. These findings are valuable for the implementation of carrier screening and genetic diagnosis for hemoglobinopathies. Furthermore, these results justify the need to introduce pre-donation screening for hemoglobinopathy carriers in Morocco, particularly in areas with a high prevalence of carriers to enhance the overall quality of the national blood supply.
doi_str_mv 10.1016/j.clinbiochem.2024.110840
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Hemoglobinopathies represent the most commonly inherited autosomal recessive blood disorders in the world. The aim of this study was to determine the carrier frequency and molecular basis of hemoglobinopathies among blood donors in eastern Morocco. This is the first study of its kind for this country. Healthy blood donors of the BRO Biobank were included in this study. Blood samples were analyzed using an automatic blood cell analyzer for complete blood counts. Hemoglobin fractions were analyzed by capillary electrophoresis and serum ferritin was measured on a chemical and immunological analyzer. Suspected hemoglobinopathy carriers were further characterized by Sanger sequencing, Gap PCR and PCR-RFLP. The study involved 2013 blood donors, of whom 1063 were male and 950 were female (sex ratio male-to-female of 1.1). The median age of these donors was 35 years. The overall carrier frequency of hemoglobinopathies was 1.84 %, with β-thalassemia carriers being the most prevalent (0.65 %) followed by HbAC (0.55 %), α-thalassemia carriers (0.30 %), HbAS (0.1 %), HbAG-Philadelphia (0.1 %), HbAD-Ouled Rabah (0.05 %) and HbAO-Arab (0.05 %). Additionally, novel β-thalassemia variants (C6(−G) and −83(A &gt; G)) and a structural variant (Hb D-Ouled Rabah) were discovered for the first time in Morocco. This study provided the first report on carrier frequency and molecular basis of hemoglobinopathies among healthy donors in Morocco. These findings are valuable for the implementation of carrier screening and genetic diagnosis for hemoglobinopathies. 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Hemoglobinopathies represent the most commonly inherited autosomal recessive blood disorders in the world. The aim of this study was to determine the carrier frequency and molecular basis of hemoglobinopathies among blood donors in eastern Morocco. This is the first study of its kind for this country. Healthy blood donors of the BRO Biobank were included in this study. Blood samples were analyzed using an automatic blood cell analyzer for complete blood counts. Hemoglobin fractions were analyzed by capillary electrophoresis and serum ferritin was measured on a chemical and immunological analyzer. Suspected hemoglobinopathy carriers were further characterized by Sanger sequencing, Gap PCR and PCR-RFLP. The study involved 2013 blood donors, of whom 1063 were male and 950 were female (sex ratio male-to-female of 1.1). The median age of these donors was 35 years. 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Hemoglobinopathies represent the most commonly inherited autosomal recessive blood disorders in the world. The aim of this study was to determine the carrier frequency and molecular basis of hemoglobinopathies among blood donors in eastern Morocco. This is the first study of its kind for this country. Healthy blood donors of the BRO Biobank were included in this study. Blood samples were analyzed using an automatic blood cell analyzer for complete blood counts. Hemoglobin fractions were analyzed by capillary electrophoresis and serum ferritin was measured on a chemical and immunological analyzer. Suspected hemoglobinopathy carriers were further characterized by Sanger sequencing, Gap PCR and PCR-RFLP. The study involved 2013 blood donors, of whom 1063 were male and 950 were female (sex ratio male-to-female of 1.1). The median age of these donors was 35 years. The overall carrier frequency of hemoglobinopathies was 1.84 %, with β-thalassemia carriers being the most prevalent (0.65 %) followed by HbAC (0.55 %), α-thalassemia carriers (0.30 %), HbAS (0.1 %), HbAG-Philadelphia (0.1 %), HbAD-Ouled Rabah (0.05 %) and HbAO-Arab (0.05 %). Additionally, novel β-thalassemia variants (C6(−G) and −83(A &gt; G)) and a structural variant (Hb D-Ouled Rabah) were discovered for the first time in Morocco. This study provided the first report on carrier frequency and molecular basis of hemoglobinopathies among healthy donors in Morocco. These findings are valuable for the implementation of carrier screening and genetic diagnosis for hemoglobinopathies. 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identifier ISSN: 0009-9120
ispartof Clinical biochemistry, 2025-01, Vol.135, p.110840, Article 110840
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1873-2933
language eng
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source ScienceDirect Freedom Collection
subjects Adult
Blood Donation
Blood Donors
BRO Biobank
Female
Hemoglobinopathies
Hemoglobinopathies - blood
Hemoglobinopathies - diagnosis
Hemoglobinopathies - epidemiology
Hemoglobinopathies - genetics
Heterozygote
Humans
Male
Middle Aged
Molecular investigation
Morocco
Morocco - epidemiology
Young Adult
title Carrier frequency and molecular basis of hemoglobinopathies among blood donors in eastern Morocco: Implications for blood donation and genetic diagnosis
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