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DC Field | Value | Language |
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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 |
Appears in Collections: | Journal/Magazine Articles |
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