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Pitfalls in the diagnosis of β-Thalassemia Intermedia

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dc.contributor.author Perera, S.
dc.contributor.author Allen, A.
dc.contributor.author Rees, DC.
dc.contributor.author Premawardhena, A.
dc.date.accessioned 2021-11-02T09:03:27Z
dc.date.available 2021-11-02T09:03:27Z
dc.date.issued 2021
dc.identifier.citation Hemoglobin.2021; 45(4):265-268. [E pub 2021 Oct 6.] en_US
dc.identifier.issn 0363-0269 (Print)
dc.identifier.issn 1532-432X (Electronic)
dc.identifier.uri http://repository.kln.ac.lk/handle/123456789/23824
dc.description Indexed in MEDLINE. en_US
dc.description.abstract We present case histories of three patients who had β-thalassemia (β-thal) trait with 'unusual severity' managed as β-thal intermedia (β-TI) where the basis of disease severity could not be explained with routine hematological and genetic investigations. The clinical diagnosis of 'thalassemia intermedia' was justifiable as they had a β-thal mutation and disease severity that did not fit in with either β-thal trait or with β-thal major (β-TM). As mutations of α, β, and γ genes could not explain the unusual severity of the disease, further analysis with next-generation sequencing (NGS) for red cell diseases was carried out, which led to the diagnosis of coexisting membranopathies. This case series highlights the inherent difficulty in the diagnosis of β-TI with certainty in some patients where the genetic basis is not clear-cut. en_US
dc.language.iso en en_US
dc.publisher Informa Healthcare en_US
dc.subject phenotypic diversity en_US
dc.title Pitfalls in the diagnosis of β-Thalassemia Intermedia en_US


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