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β-Thalassemia pathogenic variants in a cohort of children from the East African coast.
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2020-05-11 , DOI: 10.1002/mgg3.1294
Alexander W Macharia 1 , George Mochamah 1 , Sophie Uyoga 1 , Carolyne M Ndila 1 , Gideon Nyutu 1 , Metrine Tendwa 1 , Emily Nyatichi 1 , Johnstone Makale 1 , Russell E Ware 2 , Thomas N Williams 1, 3
Affiliation  

β‐Thalassemia is rare in sub‐Saharan Africa. Previous studies have suggested that it is limited to specific parts of West Africa. Based on hemoglobin A2 (HbA2) concentrations measured by HPLC, we recently speculated that β‐thalassemia might also be present on the East African coast of Kenya. Here, we follow this up using molecular methods.

中文翻译:


来自东非海岸的一组儿童中的β-地中海贫血致病变异。



β-地中海贫血在撒哈拉以南非洲地区很少见。先前的研究表明,它仅限于西非的特定地区。根据 HPLC 测量的血红蛋白 A 2 (HbA 2 ) 浓度,我们最近推测肯尼亚东非海岸也可能存在 β 地中海贫血。在这里,我们使用分子方法来追踪这一点。
更新日期:2020-07-06
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