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Korean J Hematol. 1999 May;34(2):338-343. Korean. Case Report.
Han JY , Kim TG , Kim KH , Kim IH , Lee EY , Cho GJ , Ren ZR , Huang SZ , Zeng YT , Rodgers GP .
Department of Clinical Pathology, College of Medicine, Pusan National University, Pusan, Korea.
Department of Biochemistry, Dong-A University College of Medicine, College of Medicine, Pusan National University, Pusan, Korea.
Department of Clinical Pathology, College of Medicine, Pusan National University, Pusan, Korea.
Department of Internal Medicine, College of Medicine, Pusan National University, Pusan, Korea.
Department of Shanghai Institute of Medical Genetics, Shanghai Children's Hospital, Shanghai, China.
Department 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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