Korean J Hematol.
1999 May;34(2):338-343.
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)
- Affiliations
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- 1Department of Clinical Pathology, College of Medicine, Pusan National University, Pusan, Korea.
- 2Department of Biochemistry, Dong-A University College of Medicine, College of Medicine, Pusan National University, Pusan, Korea.
- 3Department of Clinical Pathology, College of Medicine, Pusan National University, Pusan, Korea.
- 4Department of Internal Medicine, College of Medicine, Pusan National University, Pusan, Korea.
- 5Department of Shanghai Institute of Medical Genetics, Shanghai Children's Hospital, Shanghai, China.
- 6Department of Laboratory of Chemical Biology6, NIDDK/NIH, Bethesda, Maryland, U.S.A.
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.
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