Description of a rare ß-globin gene mutation, IVS-II-848 (C>A) (HBB: c.316-3C>A) in association with IVS-I-1 (G>A) (HBB: c.92 + 1G>A), observed in a Syrian family: a case report.
Hemoglobin
; 43(4-5): 283-285, 2019.
Article
in En
| MEDLINE
| ID: mdl-31718331
ABSTRACT
ß-Thalassemia (ß-thal) is a hereditary and heterogeneous group of disorders caused by mutations on the ß-globin gene that result in the reduced or non production of ß-globin chains. We report a rare ß-globin mutation, IVS-II-848 (C>A) (HBB c.316-3C>A), which was found in a female Syrian patient. This mutation was associated with the IVS-I-1 (G>A) (HBB c.92+1G>A) mutation, and the genotype is a compound heterozygote for IVS-I-1(G>A)/IVS-II-848(C>A). This combination was found for the first time in Syria.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Beta-Thalassemia
/
Beta-Globins
/
Mutation
Type of study:
Risk_factors_studies
Limits:
Female
/
Humans
Country/Region as subject:
Asia
Language:
En
Journal:
Hemoglobin
Year:
2019
Document type:
Article
Affiliation country:
Syria
Country of publication:
ENGLAND
/
ESCOCIA
/
GB
/
GREAT BRITAIN
/
INGLATERRA
/
REINO UNIDO
/
SCOTLAND
/
UK
/
UNITED KINGDOM