Summary
We have examined the molecular basis of three inherited hemoglobin (Hb) disorders present in a Czechoslovakian girl with a severe, transfusion-dependent, hemolytic anemia. She is heterozygous for Hb E (on a genetic background specific for Czechoslovakian families), heterozygous for the β∘-thalassemia (thal) allele IVS-I-1 (G → A), and heterozygous for an α-globin gene triplication. The combination of these three undesirable traits results in a severe chain imbalance that is the basis of the serious hemolytic disorder observed in this teenager.
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This study was supported in part by USPHS Research Grant HLB-41544. This is contribution 1282 from the Department of Cell and Molecular Biology at the Medical College of Georgia in Augusta
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Indrak, K., Fei, Y.J., Li, H.W. et al. A Czechoslovakian teenager with Hb E-β∘-thalassemia [IVS-I-1 (G → A)] complicated by the presence of an α-globin gene triplication. Ann Hematol 63, 42–44 (1991). https://doi.org/10.1007/BF01714960
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DOI: https://doi.org/10.1007/BF01714960