Case Report: ß-thalassemia major on the East African coast.
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 (ATGâACG) (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.
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