-transparent.png){kind=logo}
A new alpha chain variant Hb Sallanches [alpha 2 104(G11) Cys-->Tyr] associated with HbH disease in one homozygous patient. 1995
F Morlé, and
A Francina, and
R Ducrocq, and
H Wajcman, and
C Gonnet, and
N Philippe, and
G Souillet, and
J Godet
Centre de Génétique Moléculaire et Cellulaire, CNRS UMR 106, Villeurbanne, France.
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 patient is mostly related to a significant instability of alpha Sal:beta dimers rather than to the hyperinstability of the alpha Sal chain itself only.
Related Publications
F Morlé, and
A Francina, and
R Ducrocq, and
H Wajcman, and
C Gonnet, and
N Philippe, and
G Souillet, and
J Godet
November 2000,
Hemoglobin,
F Morlé, and
A Francina, and
R Ducrocq, and
H Wajcman, and
C Gonnet, and
N Philippe, and
G Souillet, and
J Godet
February 2000,
Hemoglobin,
F Morlé, and
A Francina, and
R Ducrocq, and
H Wajcman, and
C Gonnet, and
N Philippe, and
G Souillet, and
J Godet
January 2006,
Hemoglobin,
F Morlé, and
A Francina, and
R Ducrocq, and
H Wajcman, and
C Gonnet, and
N Philippe, and
G Souillet, and
J Godet
January 2009,
Hemoglobin,
F Morlé, and
A Francina, and
R Ducrocq, and
H Wajcman, and
C Gonnet, and
N Philippe, and
G Souillet, and
J Godet
January 2005,
Hemoglobin,
F Morlé, and
A Francina, and
R Ducrocq, and
H Wajcman, and
C Gonnet, and
N Philippe, and
G Souillet, and
J Godet
September 1994,
Hemoglobin,
F Morlé, and
A Francina, and
R Ducrocq, and
H Wajcman, and
C Gonnet, and
N Philippe, and
G Souillet, and
J Godet
January 1994,
Hemoglobin,
F Morlé, and
A Francina, and
R Ducrocq, and
H Wajcman, and
C Gonnet, and
N Philippe, and
G Souillet, and
J Godet
January 1989,
Hemoglobin,
F Morlé, and
A Francina, and
R Ducrocq, and
H Wajcman, and
C Gonnet, and
N Philippe, and
G Souillet, and
J Godet
January 2010,
Hemoglobin,
F Morlé, and
A Francina, and
R Ducrocq, and
H Wajcman, and
C Gonnet, and
N Philippe, and
G Souillet, and
J Godet
September 1996,
British journal of haematology,
