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

Background: β-thalassemia is rare in sub-Saharan Africa and to our knowledge there has been no case of homozygous major reported from this region. In a recent cohort study, we identified four mutations among 83 heterozygous carriers Kilifi, Kenya. One the was β-globin gene initiation codon mutation (ATG➝ACG) (rs33941849). Here present patient with resulting mutation, only second have reported. Methods: The female presented Kilifi County Hospital aged two years one week left sided abdominal swelling. Clinical, hematological genetic information were collected at admission follow-up. Results: Admission bloods revealed marked anemia, hemoglobin (Hb) value 6.6 g/dL low mean corpuscular volume 64 fL. High performance liquid chromatography (HPLC) absence HbA0 elevated levels HbF, suggesting diagnosis major. Sequencing that child for rs33941849 mutation. Conclusions: We hope study will create awareness regarding presence as potential public health problem East region prompt development local guidelines management condition.