title: A new alpha chain variant Hb Sallanches [alpha 2 104(G11) Cys-->Tyr] associated with HbH disease in one homozygous patient.
abstract: 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.
authors.affiliation: Centre de Génétique Moléculaire et Cellulaire, CNRS UMR 106, Villeurbanne, France.
authors.forename: F
authors.initials: F
authors.lastname: Morlé
authors.forename: A
authors.initials: A
authors.lastname: Francina
authors.forename: R
authors.initials: R
authors.lastname: Ducrocq
authors.forename: H
authors.initials: H
authors.lastname: Wajcman
authors.forename: C
authors.initials: C
authors.lastname: Gonnet
authors.forename: N
authors.initials: N
authors.lastname: Philippe
authors.forename: G
authors.initials: G
authors.lastname: Souillet
authors.forename: J
authors.initials: J
authors.lastname: Godet
mesh_terms: 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
chemical_list: D005914:Globins; D006447:Hemoglobin H