INTERACTION OF HETEROZYGOUS BETA-O-THALASSEMIA AND TRIPLICATED ALPHA-GLOBIN LOCI IN A SWISS-SPANISH FAMILY

被引：10

作者：

BERIS, P

DARBELLAY, R

HOCHMANN, A

PRADERVAND, E

PUGIN, P

机构：

[1] UNIV SPITAL GENF,HAMATOL ABT,GENEVA,SWITZERLAND

[2] FRIBOURG KANTONS SPITAL,INNERE MED ABT,FRIBOURG,SWITZERLAND

来源：

KLINISCHE WOCHENSCHRIFT | 1991年 / 69卷 / 15期

关键词：

THALASSEMIA-INTERMEDIA; BETA-THALASSEMIA; TRIPLICATED ALPHA-GLOBIN LOCI; BETA-GENE CODON-39 MUTATION;

D O I：

10.1007/BF01649440

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

We report a Swiss-Spanish family three members of which have the clinical picture of thalassemia intermedia. Restriction endonuclease mapping of the alpha-globin cluster and digestion with Mae I of the in vitro amplified 5' segment of the beta-globin gene shows a combination of triplicated alpha-globin locus, anti-3.7 kb type, with heterozygous codon 39 C --> T beta-0 thalassemic mutation. These, as well as 16 similar cases reported in the literature, permit the following conclusion: a single extra alpha-globin gene gives rise to a clinically significant degree of dyserythropoietic anemia only when it interacts with a severe beta+ or beta-0 thalassemic mutation.

引用

页码：710 / 714

页数：5

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