title: Molecular characterization of a rare hemoglobin variant: Hb-Hinsdale: beta139(H17)ASN-->Lys.
abstract: The authors describe the characteristics of a rare hemoglobin mutant found in a young female. She carries the aminoacid replacement of Hb-Hinsdale:beta139(H17)ASN-->Lys, which was identified at molecular level. This case, clinically and hematologically symptomless, is identical, but genetically independent, to the cases first described in an American family.
authors.affiliation: Laboratorio di Ematologia, Ospedale Infantile Regina Margherita, Università degli Studi, Torino, Italy.
authors.forename: V
authors.initials: V
authors.lastname: Degani
authors.forename: D
authors.initials: D
authors.lastname: Leone
authors.forename: R
authors.initials: R
authors.lastname: Murtas
authors.forename: S
authors.initials: S
authors.lastname: De Angelis
authors.forename: E
authors.initials: E
authors.lastname: Rabino-Massa
mesh_terms: D001216:Asparagine / Q000235:genetics; D005260:Female; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008239:Lysine / Q000235:genetics; D017354:Point Mutation
chemical_list: D006455:Hemoglobins, Abnormal; C062069:hemoglobin Hinsdale; D001216:Asparagine; D008239:Lysine