Sökning: onr:"swepub:oai:prod.swepub.kib.ki.se:237811313" >
Case Report: β-thal...
Case Report: β-thalassemia major on the East African coast
-
Macharia, AW (författare)
-
Mochamah, G (författare)
-
Makale, J (författare)
-
visa fler...
-
Howard, T (författare)
-
Mturi, N (författare)
-
Olupot-Olupot, P (författare)
-
- Färnert, A (författare)
- Karolinska Institutet
-
Ware, RE (författare)
-
Williams, TN (författare)
-
visa färre...
-
(creator_code:org_t)
- 2022-07-13
- 2022
- Engelska.
-
Ingår i: Wellcome open research. - : F1000 Research Ltd. - 2398-502X. ; 7, s. 188-
- Relaterad länk:
-
http://kipublication...
-
visa fler...
-
https://doi.org/10.1...
-
visa färre...
Abstract
Ämnesord
Stäng
- 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 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.
Publikations- och innehållstyp
- vet (ämneskategori)
- art (ämneskategori)
Hitta via bibliotek
Till lärosätets databas