Molecular understanding of unusual HbE-ß+-thalassemia with Hb phenotype similar to HbE heterozygote: simple and rapid differentiation using HbE levels.
Ann Med
; 55(2): 2267054, 2023.
Article
en En
| MEDLINE
| ID: mdl-37816374
HbE-ß+-thalassemia displays a wide range of HbF expression, which may lead to the misdiagnosis of HbE heterozygosity in patients whose Hb analysis shows HbE and HbA. α-Thalassemia may be a major factor associated with decreased secondary activation of HbF expression in the disease.HbE may be a potential indicator for effectively differentiating HbE-ß+-thalassemia from HbE heterozygotes.The high proportion and heterogeneity of α-thalassemia mutations found in patients with HbE-ß+-thalassemia evoke a complex thalassemia syndrome, requiring complete DNA analysis.
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Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
Hemoglobina E
/
Talasemia beta
/
Talasemia alfa
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Idioma:
En
Revista:
Ann Med
Asunto de la revista:
MEDICINA
Año:
2023
Tipo del documento:
Article