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).
- Author:
Jin Yeong HAN
1
;
Tae Gyeom KIM
;
Kyeong Hee KIM
;
In Hoo KIM
;
Eun Yup LEE
;
Goon Jae CHO
;
Zhao Rui REN
;
Shu Zhen HUANG
;
Yi Tao ZENG
;
Griffin P RODGERS
Author Information
1. Department of Clinical Pathology, College of Medicine, Pusan National University, Pusan, Korea.
- Publication Type:Case Report
- Keywords:
Thalassemia intermedia;
Triplicated alpha-globin gene;
Korean family
- MeSH:
alpha-Globins*;
Anemia;
beta-Thalassemia*;
Female;
Humans;
Korea;
Phenotype;
Siblings;
Thalassemia*
- From:Korean Journal of Hematology
1999;34(2):338-343
- CountryRepublic of Korea
- Language:Korean
-
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.
