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

Authors
MORLE F FRANCINA A DUCROCQ R WAJCMAN H GONNET C PHILIPPE N SOUILLET G GODBY J
Citation
F. Morle et al., A NEW ALPHA-CHAIN VARIANT HB SALLANCHES [ALPHA-2 104(G11) CYS-]TYR] ASSOCIATED WITH HBH DISEASE IN ONE HOMOZYGOUS PATIENT, British Journal of Haematology, 91(3), 1995, pp. 608-611
Citations number
13
Categorie Soggetti
Hematology
Journal title
British Journal of Haematology → ACNP
ISSN journal
00071048
Volume
91
Issue
3
Year of publication
1995
Pages
608 - 611
Database
ISI
SICI code
0007-1048(1995)91:3<608:ANAVHS>2.0.ZU;2-B
Abstract
We identified a new alpha-chain variant (alpha(Sal)) associated with h aemolytic anaemia and low level of HbH in one homozygous patient. This new mutation is located in codon 104 (TGC --> TAC) of the alpha 2 glo bin gene and results in a Cys --> Tyr replacement. In vitro and in viv o biosynthetic studies suggest that the mechanism leading to HbH disea se in this homozygous patients is mostly related to a significant inst ability of alpha(Sal):beta dimers rather than to the hyperinstability of the alpha Sal chain itself only.