β-Thalassemia pathogenic variants in a cohort of children from the East African coast.,Molecular Genetics & Genomic Medicine

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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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