Article

Case Report: β-thalassemia major on the East African coast

2022-07-13

Abstract excerpt

<h4>Background: </h4> β-thalassemia is rare in sub-Saharan Africa and to our knowledge there has been no case of homozygous β-thalassemia major reported from this region. In a recent cohort study, we identified four β-thalassemia mutations among 83 heterozygous carriers in Kilifi, Kenya. One of the mutations identified was a rare β-globin gene initiation codon mutation (ATG➝ACG) (rs33941849). Here we present a pat...

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Literature Corpus work: c2cc55c8-bbd9-5bb7-a660-4fb21fc32042
DOI: 10.12688/wellcomeopenres.17907.1

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