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

ABSTRACT: Background: 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 patient with β-thalassemia major resulting from this mutation, only the second homozygous patient to have been reported.  Methods: The female patient presented to Kilifi County Hospital aged two years with a one week left sided abdominal swelling. Clinical, hematological and genetic information were collected at admission and follow-up.  Results: Admission bloods revealed

SUBMITTER: Macharia AW 

PROVIDER: S-EPMC10551670 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature