Biomedical Genomics and Oncogenetics Research Laboratory, Faculty of Sciences and Techniques of Tangier, University Abdelmalek Essaâdi, Tangier 90000, Morocco.
Pediatric Hemato-Oncology Service, Children's Hospital, CHU Rabat 10010, Morocco.
Biomed Res Int. 2019 Mar 13;2019:2080352. doi: 10.1155/2019/2080352. eCollection 2019.
Unlike the other hemoglobinopathies, few researches have been published concerning -thalassemia in Morocco. The epidemiological features and the mutation spectrum of this disease are still unknown. This regional newborn screening is the first to study -thalassemia in the north of Morocco. During the period from January 2015 to December 2016, 1658 newborns umbilical blood samples were investigated. Suspected newborns were screened for -globin defects using Gap-PCR and Multiplex Ligation-dependent Probe Amplification technique. The prevalence of -thalassemia, its mutation spectrum, and its allelic frequencies were described for the first time in Morocco. Six different -globin genetic disorders were detected in 16 neonates. This screening valued the prevalence of -thalassemia in the studied population at 0.96% and showed the wide mutation spectrum and the heterogeneous geographical distribution of the disease. A high rate of carriers was observed in Laouamra, a rural commune in Larache province. Heterogeneity of -globin alleles in Morocco explains the high variability of -thalassemia severity. This diversity reflects the anthropological history of the country. These results would contribute to the prevention of thalassemia in Morocco directing the design of a nationwide screening strategy and awareness campaign.
与其他血红蛋白病不同,摩洛哥的β-地中海贫血症相关研究较少。该疾病的流行病学特征和突变谱尚不清楚。这项区域性新生儿筛查是首次对摩洛哥北部的β-地中海贫血症进行研究。在 2015 年 1 月至 2016 年 12 月期间,共检测了 1658 名新生儿的脐血样本。采用 Gap-PCR 和多重连接依赖性探针扩增技术对疑似新生儿进行β-球蛋白缺陷筛查。首次在摩洛哥描述了β-地中海贫血症的流行情况、突变谱及其等位基因频率。在 16 名新生儿中检测到了六种不同的β-球蛋白遗传疾病。这项筛查评估了研究人群中β-地中海贫血症的患病率为 0.96%,并显示了该疾病广泛的突变谱和异质的地理分布。在拉罗什省的一个农村公社拉乌阿姆拉,发现了大量的携带者。摩洛哥的β-球蛋白等位基因异质性解释了β-地中海贫血症严重程度的高度可变性。这种多样性反映了该国的人类学历史。这些结果将有助于在摩洛哥预防地中海贫血症,指导全国性筛查策略和宣传活动的设计。