Imperial College London
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Professor Thomas N Williams

Faculty of Medicine, Department of Surgery & Cancer

Chair in Haemoglobinopathy Research
 
 
 
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Contact

 

tom.williams Website

 
 
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Location

 

Norfolk PlaceSt Mary's Campus

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Summary

 

Publications

Citation

BibTex format

@article{Macharia:2022:10.12688/wellcomeopenres.17907.1,
author = {Macharia, AW and Mochamah, G and Makale, J and Howard, T and Mturi, N and Olupot-Olupot, P and Färnert, A and Ware, RE and Williams, TN},
doi = {10.12688/wellcomeopenres.17907.1},
journal = {Wellcome Open Research},
title = {Case report: β-thalassemia major on the East African coast},
url = {http://dx.doi.org/10.12688/wellcomeopenres.17907.1},
volume = {7},
year = {2022}
}
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RIS format (EndNote, RefMan)

TY  - JOUR
AB  - 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 (ATGACG) (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 marked anemia, with a hemoglobin (Hb) value of 6.6 g/dL and a low mean corpuscular volume of 64 fL. High performance liquid chromatography (HPLC) revealed the absence of HbA0 and elevated levels of HbF, suggesting a diagnosis of β-thalassemia major. Sequencing revealed that the child was homozygous for the rs33941849 initiation codon mutation. Conclusions: We hope that this study will create awareness regarding the presence of β-thalassemia as a potential public health problem in the East Africa region and will prompt the development of local guidelines regarding the diagnosis and management of this condition.
AU  - Macharia,AW
AU  - Mochamah,G
AU  - Makale,J
AU  - Howard,T
AU  - Mturi,N
AU  - Olupot-Olupot,P
AU  - Färnert,A
AU  - Ware,RE
AU  - Williams,TN
DO  - 10.12688/wellcomeopenres.17907.1
PY  - 2022///
SN  - 2398-502X
TI  - Case report: β-thalassemia major on the East African coast
T2  - Wellcome Open Research
UR  - http://dx.doi.org/10.12688/wellcomeopenres.17907.1
UR  - https://wellcomeopenresearch.org/articles/7-188/v1
UR  - http://hdl.handle.net/10044/1/98336
VL  - 7
ER  -
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