A CZECHOSLOVAKIAN TEENAGER WITH HB E-BETA-DEGREES-THALASSEMIA [IVS-I-1(G-]A)] COMPLICATED BY THE PRESENCE OF AN ALPHA-GLOBIN GENE TRIPLICATION

被引：3

作者：

INDRAK, K

FEI, YJ

LI, HW

BAYSAL, E

BRABEC, V

FORTOVA, H

CERMAK, J

HUISMAN, THJ

机构：

[1] FAC HOSP OLOMOUC, DEPT CLIN HEMATOL, OLOMOUC, CZECHOSLOVAKIA

[2] INST HEMATOL & BLOOD TRANSFUS, PRAGUE, CZECHOSLOVAKIA

[3] MED COLL GEORGIA, DEPT CELL & MOLEC BIOL, AUGUSTA, GA 30912 USA

来源：

ANNALS OF HEMATOLOGY | 1991年 / 63卷 / 01期

关键词：

HB-E; BETA-THAL TRAIT; ALPHA-GLOBIN GENES; CHAIN IMBALANCE;

D O I：

10.1007/BF01714960

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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-degrees-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.

引用

页码：42 / 44

页数：3

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