title: A new G(gamma) chain variant: Hb F-Bron [gamma20(B2)val-->Ala].
abstract: A new G(gamma) hemoglobin (Hb) variant, Hb F-Bron [gamma20(B2)Val-->Ala] on the first exon of the G(gamma)-globin gene is described. The variant was characterized by DNA sequencing and mass spectrometry (MS). Hematological abnormalities included hypochromia and microcytosis and were probably caused by an interaction with an alpha-thalassemia (thal) (3.7 kb) deletion in the heterozygous state.
authors.affiliation: Unité de Pathologie Moléculaire, Fédération de Biochimie et de Biologie Spécialisée, Hôpital Edouard Herriot, Lyon, France.
authors.forename: Philippe
authors.initials: P
authors.lastname: Lacan
authors.forename: Nelly
authors.initials: N
authors.lastname: Burnichon
authors.forename: Michel
authors.initials: M
authors.lastname: Becchi
authors.forename: Isabelle
authors.initials: I
authors.lastname: Zanella-Cleon
authors.forename: Martine
authors.initials: M
authors.lastname: Aubry
authors.forename: Nicole
authors.initials: N
authors.lastname: Couprie
authors.forename: Alain
authors.initials: A
authors.lastname: Francina
mesh_terms: D000747:Anemia, Hypochromic / Q000235:genetics; D004252:DNA Mutational Analysis; D005319:Fetal Hemoglobin / Q000235:genetics*; D014644:Genetic Variation; D005914:Globins / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D020125:Mutation, Missense; D017085:alpha-Thalassemia / Q000235:genetics
chemical_list: D006455:Hemoglobins, Abnormal; C508164:hemoglobin F-Bron; D005914:Globins; D005319:Fetal Hemoglobin