A Czechoslovakian Teenager with Hb E-beta Zero-thalassemia [IVS-I-1 (G----A)] Complicated by the Presence of an Alpha-globin Gene Triplication

Overview

Journal Ann Hematol

Specialty Hematology

Date 1991 Jul 1

PMID 1878422

Authors

K Indrak

Y J Fei

H W Li

E Baysal

V Brabec

H Fortova

J cermak

T H HUISMAN

Affiliations

Soon will be listed here.

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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