A new alpha chain variant Hb Sallanches [alpha 2 104(G11) Cys-->Tyr] associated with HbH disease in one homozygous patient.
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.
Morlé
F
F
Centre de Génétique Moléculaire et Cellulaire, CNRS UMR 106, Villeurbanne, France.
Francina
A
A
Ducrocq
R
R
Wajcman
H
H
Gonnet
C
C
Philippe
N
N
Souillet
G
G
Godet
J
J
D000328:Adult; D000743:Anemia, Hemolytic / Q000235:genetics*; D001483:Base Sequence; D002675:Child, Preschool; D004586:Electrophoresis; D005260:Female; D005914:Globins / Q000235:genetics; D006447:Hemoglobin H / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data
D005914:Globins; D006447:Hemoglobin H