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

IF 2.5 3区医学 Q2 MEDICAL LABORATORY TECHNOLOGY

Clinical biochemistry Pub Date : 2024-11-06 DOI:10.1016/j.clinbiochem.2024.110840

Ihab Belmokhtar , Karam Yahya Belmokhtar , Saida Lhousni , Majida Charif , Zaina Sidqi , Rachid Seddik , Mohammed Choukri , Mohammed Bellaoui , Redouane Boulouiz

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引用次数: 0

Abstract

Background

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.

Methods

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.

Results

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.

Conclusions

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.

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摩洛哥东部献血者中血红蛋白病的携带者频率和分子基础：对献血和基因诊断的影响。

背景：血红蛋白病是世界上最常见的常染色体隐性遗传血液病。这项研究的目的是确定摩洛哥东部献血者中血红蛋白病的携带者频率和分子基础。方法：本研究纳入了 BRO 生物库的健康献血者。使用自动血细胞分析仪对血样进行全血细胞计数分析。用毛细管电泳分析血红蛋白组分，用化学和免疫分析仪测量血清铁蛋白。通过桑格测序、Gap PCR 和 PCR-RFLP 对疑似血红蛋白病携带者进行进一步鉴定：研究涉及 2013 名献血者，其中男性 1063 人，女性 950 人（男女性别比为 1.1）。这些献血者的年龄中位数为 35 岁。血红蛋白病的总携带率为 1.84%，其中β-地中海贫血携带者最多（0.65%），其次是 HbAC（0.55%）、α-地中海贫血携带者（0.30%）、HbAS（0.1%）、HbAG-费城（0.1%）、HbAD-Ouled Rabah（0.05%）和 HbAO-阿拉伯（0.05%）。此外，摩洛哥还首次发现了新型β地中海贫血变异体（C6(-G)和-83(A > G)）和一种结构变异体（Hb D-Ouled Rabah）：本研究首次报告了摩洛哥健康捐献者中血红蛋白病的携带者频率和分子基础。这些发现对实施血红蛋白病的携带者筛查和基因诊断很有价值。此外，这些结果证明有必要在摩洛哥对血红蛋白病携带者进行献血前筛查，尤其是在携带者高发地区，以提高全国血液供应的整体质量。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Clinical biochemistry 医学-医学实验技术

CiteScore

5.10

自引率

0.00%

发文量

151

审稿时长

25 days

期刊介绍： Clinical Biochemistry publishes articles relating to clinical chemistry, molecular biology and genetics, therapeutic drug monitoring and toxicology, laboratory immunology and laboratory medicine in general, with the focus on analytical and clinical investigation of laboratory tests in humans used for diagnosis, prognosis, treatment and therapy, and monitoring of disease.