A Korean Family with Thalassemia Intermedia due to Co-inheritance of Triplicated alpha-Globin Genes (alphaalpha/alphaalphaalphaanti3.7) and beta-Thalassemia Trait (IVSII-1 G -> A) / 대한혈액학회지
Korean Journal of Hematology
;
: 338-343, 1999.
Article
in Korean
| WPRIM
| ID: wpr-720905
ABSTRACT
We report a Korean family in which the interaction of a triplicated alpha-globin locus and a heterozygous beta-thalassemia gives rise to a clinical phenotype of thalassemia intermedia. The propositus, a 36year-old woman, was evaluated because of moderately severe chronic anemia. Molecular analysis revealed heterozygosity for a single beta-thalassemia mutation, IVSII-1 (G->A). Additionally, she was found to have co-inherited a triplicated alpha-globin gene (alphaalpha/alphaalphaalphaanti3.7). In contrast, her brother heterozygous for the same triplicated alpha-locus and beta-thalassemia was clinically normal, suggesting that the delicate balance between alpha- and beta-chains is controlled by other currently not identified factors. Thalassemia intermedia due to co-inheritance of alphaalpha/alphaalphaalphaanti3.7 and IVSII-1 (G->A) was rare, and in Korea, this patient is the first case of thalassemia intermedia attributable to this combined abnormalities.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Phenotype
/
Thalassemia
/
Beta-Thalassemia
/
Siblings
/
Alpha-Globins
/
Anemia
/
Korea
Type of study:
Prognostic study
Limits:
Female
/
Humans
Country/Region as subject:
Asia
Language:
Korean
Journal:
Korean Journal of Hematology
Year:
1999
Type:
Article
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