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Case Reports
. 1991 Jul;63(1):42-4.
doi: 10.1007/BF01714960.

A Czechoslovakian teenager with Hb E-beta zero-thalassemia [IVS-I-1 (G----A)] complicated by the presence of an alpha-globin gene triplication

K Indrak  1 , Y J Fei, H W Li, E Baysal, V Brabec, H Fortova, J Cermak, T H Huisman
Affiliations
Case Reports

A Czechoslovakian teenager with Hb E-beta zero-thalassemia [IVS-I-1 (G----A)] complicated by the presence of an alpha-globin gene triplication

K Indrak et al. Ann Hematol. 1991 Jul.

Abstract

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 beta zero-thalassemia (thal) allele IVS-I-1 (G----A), and heterozygous for an alpha-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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