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Case Report: ß-thalassemia major on the East African coast.
Macharia, Alexander W; Mochamah, George; Makale, Johnstone; Howard, Thad; Mturi, Neema; Olupot-Olupot, Peter; Färnert, Anna; Ware, Russell E; Williams, Thomas N.
Afiliação
  • Macharia AW; Epidemiology and Demography Department, KEMRI/Wellcome Trust Kilifi, Kilifi, 254, Kenya.
  • Mochamah G; Epidemiology and Demography Department, KEMRI/Wellcome Trust Kilifi, Kilifi, 254, Kenya.
  • Makale J; Epidemiology and Demography Department, KEMRI/Wellcome Trust Kilifi, Kilifi, 254, Kenya.
  • Howard T; Division of Hematology, Cincinnati Children's Hospital Medical Center, OH, USA.
  • Mturi N; Epidemiology and Demography Department, KEMRI/Wellcome Trust Kilifi, Kilifi, 254, Kenya.
  • Olupot-Olupot P; Mbale Clinical Research Institute, Mbale, Uganda.
  • Färnert A; Busitema University Faculty of Health Sciences, Mbale, Uganda.
  • Ware RE; Karolinska Institute, Stockholm, Sweden.
  • Williams TN; Division of Hematology, Cincinnati Children's Hospital Medical Center, OH, USA.
Wellcome Open Res ; 7: 188, 2022.
Article em En | MEDLINE | ID: mdl-37811313
ABSTRACT

Background:

ß-thalassemia is rare in sub-Saharan Africa and to our knowledge there has been no case of homozygous ß-thalassemia major reported from this region. In a recent cohort study, we identified four ß-thalassemia mutations among 83 heterozygous carriers in Kilifi, Kenya. One of the mutations identified was a rare ß-globin gene initiation codon mutation (ATG➝ACG) (rs33941849). Here we present a patient with ß-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 ß-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 ß-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.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Guideline / Observational_studies / Prognostic_studies Idioma: En Revista: Wellcome Open Res Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Quênia

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Guideline / Observational_studies / Prognostic_studies Idioma: En Revista: Wellcome Open Res Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Quênia