Pitfalls in the Diagnosis of ß-Thalassemia Intermedia.
Hemoglobin
; 45(4): 265-268, 2021 Jul.
Article
en En
| MEDLINE
| ID: mdl-34612117
We present case histories of three patients who had ß-thalassemia (ß-thal) trait with 'unusual severity' managed as ß-thal intermedia (ß-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 ß-thal mutation and disease severity that did not fit in with either ß-thal trait or with ß-thal major (ß-TM). As mutations of α, ß, 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 ß-TI with certainty in some patients where the genetic basis is not clear-cut.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Talasemia beta
/
Talasemia alfa
Tipo de estudio:
Diagnostic_studies
Límite:
Humans
Idioma:
En
Revista:
Hemoglobin
Año:
2021
Tipo del documento:
Article
País de afiliación:
Sri Lanka
Pais de publicación:
Reino Unido