Article
β-Thalassemia pathogenic variants in a cohort of children from the East African coast.
Molecular genetics & genomic medicine - 1 Jul 2020
Macharia Alexander W, Mochamah George, Uyoga Sophie, Ndila Carolyne M, Nyutu Gideon, Tendwa Metrine, Nyatichi Emily, Makale Johnstone, Ware Russell E, Williams Thomas N
Abstract excerpt
BACKGROUND: 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. METHODS: We used raised hemoglobin A2 (HbA2 ) values (> 4.0%...
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