Hb Lepore-Hong Kong: First Report of a Novel δ/ß-Globin Gene Fusion in a Chinese Family.
Hemoglobin
; 45(4): 220-224, 2021 Jul.
Article
em En
| MEDLINE
| ID: mdl-34309467
ABSTRACT
We describe a new δ/ß fusion gene causing ß-thalassemia (ß-thal) trait and its formation mechanism. The proband was a 39-year-old woman who presented with persistent microcytic microcytosis without iron deficiency. Molecular diagnoses revealed a 뫧 configuration within a 54 bp region between the Cap site (+22) and codon 8, causing a deletion (NG_000007.3 g.63154_70565del). This results in a variant that has been named Hb Lepore-Hong Kong and shows a decreased ß-globin mRNA in carriers compared to that of normal subjects. It is assumed that combination of this variant with ß-thal may cause severe ß-thal syndrome.
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Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Hemoglobinas Anormais
/
Talassemia beta
Tipo de estudo:
Diagnostic_studies
Limite:
Adult
/
Female
/
Humans
País como assunto:
Asia
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article