title: Two new hemoglobin variants: Hb Brem-sur-Mer [beta9(A6)Ser-->Tyr] and Hb Passy [alpha81(F2)Ser-->Pro (alpha2)].
abstract: Two new hemoglobin (Hb) variants: Hb Brem-sur-Mer [codon 9 (TCT-->TAT); beta9(A6)Ser-->Tyr] on the first exon of the beta-globin gene and Hb Passy [codon 81 (TCC-->CCC); alpha81(F2)Ser-->Pro (alpha2)] on the second exon of the alpha2-globin gene, are described. The two variants were characterized by DNA sequencing and mass spectrometry (MS). Hematological abnormalities: microcytosis and hypochromia were found only in the carrier of Hb Passy. In the absence of an association with an alpha-thalassemic deletion or mutation, the mutation 81(F2)Pro could induce a possible alpha-thalassemia (thal).
authors.affiliation: Unité de Pathologie Moléculaire, Fédération de Biochimie et de Biologie Spécialisée, Hôpital Edouard Herriot, Lyon Cedex 03, France.
authors.forename: Philippe
authors.initials: P
authors.lastname: Lacan
authors.forename: Mathieu
authors.initials: M
authors.lastname: Moreau
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: Jean-Jacques
authors.initials: JJ
authors.lastname: Louis
authors.forename: Nicole
authors.initials: N
authors.lastname: Couprie
authors.forename: Alain
authors.initials: A
authors.lastname: Francina
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics*; D000596:Amino Acids / Q000235:genetics; D000747:Anemia, Hypochromic / Q000235:genetics; D003062:Codon / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D005260:Female; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008297:Male; D017354:Point Mutation / Q000235:genetics*; D017085:alpha-Thalassemia / Q000235:genetics
chemical_list: D000596:Amino Acids; D003062:Codon; D006455:Hemoglobins, Abnormal; C502561:hemoglobin Brem-sur-Mer; C502562:hemoglobin Passy