title: A new high affinity variant Hb Aurillac (β141Leu→Val).
abstract: Hemoglobin (Hb) variant β141(H19)Leu→Val (HBB:c.424C>G), one of the two mutations defining Hb Kochi [the other one being β144(HC1)Lys-Tyr-His→0 (HBB:c.433A>T)], was found as an isolated mutation. In contrast to what was suggested for Hb Kochi, the new variant was not clinically silent. It displayed increased oxygen affinity and was associated with mild erythrocytosis.
authors.affiliation: Laboratory of Hematology, Saint-Eloi Hospital , CHU de Montpellier, Montpellier , France.
authors.forename: Guilaine
authors.initials: G
authors.lastname: Boursier
authors.forename: Sébastien
authors.initials: S
authors.lastname: Trouillier
authors.forename: Muriel Giansily
authors.initials: MG
authors.lastname: Blaizot
authors.forename: Hélène
authors.initials: H
authors.lastname: Igual
authors.forename: Jean-François
authors.initials: JF
authors.lastname: Schved
authors.forename: Patricia Aguilar
authors.initials: PA
authors.lastname: Martinez
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D003062:Codon; D004252:DNA Mutational Analysis; D004909:Erythrocyte Indices; D005091:Exons; D006455:Hemoglobins, Abnormal / Q000235:genetics* / Q000378:metabolism*; D006801:Humans; D008297:Male; D009154:Mutation; D010100:Oxygen / Q000378:metabolism; D011485:Protein Binding; D055544:beta-Globins / Q000235:genetics* / Q000378:metabolism*
chemical_list: D003062:Codon; D006455:Hemoglobins, Abnormal; D055544:beta-Globins; C000588846:hemoglobin Aurillac; C557563:hemoglobin Cambridge-MA; C502557:hemoglobin Kochi; D010100:Oxygen