Pitfalls in the Diagnosis of β-Thalassemia Intermedia

Perera, Shiromi, Allen, Angie, Rees, David C and Premawardhena, Anuja (2021) 'Pitfalls in the Diagnosis of β-Thalassemia Intermedia'. Hemoglobin, Vol 45, Issue 4, pp. 265-268.

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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.

Item Type:	Article
Subjects:	WH Hemic and Lymphatic Systems > Hematologic Diseases. Immunologic Factors. Blood Banks > WH 170 Hemolytic anemia (e.g., Sickle cell anemia) WH Hemic and Lymphatic Systems > Hematologic Diseases. Immunologic Factors. Blood Banks > WH 190 Hemoglobin and other hemeproteins. Porphyrins (Associated with hemoglobin) WH Hemic and Lymphatic Systems > WH 20 Research (General)
Faculty: Department:	Biological Sciences > Department of Tropical Disease Biology
Digital Object Identifer (DOI):	https://doi.org/10.1080/03630269.2021.1981370
Depositing User:	Julie Franco
Date Deposited:	14 Dec 2021 09:17
Last Modified:	06 Oct 2022 01:02
URI:	https://archive.lstmed.ac.uk/id/eprint/19642

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