A NEW ALPHA-CHAIN VARIANT HB SALLANCHES [ALPHA-2 104(G11) CYS-]TYR] ASSOCIATED WITH HBH DISEASE IN ONE HOMOZYGOUS PATIENT

被引：48

作者：

MORLE, F

FRANCINA, A

DUCROCQ, R

WAJCMAN, H

GONNET, C

PHILIPPE, N

SOUILLET, G

GODBY, J

机构：

[1] HOP EDOUARD HERRIOT,FEDERAT BIOCHIM,UNITE PATHOL MOLEC,LYON,FRANCE

[2] HOP ROBERT DEBRE,INSERM,U120,BIOCHIM GENET LAB,PARIS,FRANCE

[3] HOP HENRI MONDOR,INSERM,U91,F-94010 CRETEIL,FRANCE

[4] HOP DEBROUSSE,SERV IMMUNOHEMATOL PEDIAT & TRANSPLANTAT MOELLE O,LYON,FRANCE

来源：

BRITISH JOURNAL OF HAEMATOLOGY | 1995年 / 91卷 / 03期

关键词：

HBB; UNSTABLE ALPHA-CHAIN VARIANT;

D O I：

10.1111/j.1365-2141.1995.tb05355.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

We identified a new alpha-chain variant (alpha(Sal)) associated with haemolytic anaemia and low level of HbH in one homozygous patient. This new mutation is located in codon 104 (TGC --> TAC) of the alpha 2 globin gene and results in a Cys --> Tyr replacement. In vitro and in vivo biosynthetic studies suggest that the mechanism leading to HbH disease in this homozygous patients is mostly related to a significant instability of alpha(Sal):beta dimers rather than to the hyperinstability of the alpha Sal chain itself only.

引用

页码：608 / 611

页数：4

共 13 条

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