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Title: | Pitfalls in the diagnosis of β-Thalassemia Intermedia |
Authors: | Perera, S. Allen, A. Rees, DC. Premawardhena, A. |
Keywords: | phenotypic diversity |
Issue Date: | 2021 |
Publisher: | Informa Healthcare |
Citation: | Hemoglobin.2021; 45(4):265-268. [E pub 2021 Oct 6.] |
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. |
Description: | Indexed in MEDLINE. |
URI: | http://repository.kln.ac.lk/handle/123456789/23824 |
ISSN: | 0363-0269 (Print) 1532-432X (Electronic) |
Appears in Collections: | Journal/Magazine Articles |
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