title: Hb Trollhättan [beta 20(B2)Val-->Glu]--a new haemoglobin variant with increased oxygen affinity causing erythrocytosis.
abstract: Erythrocytosis is sometimes caused by the presence of haemoglobin (Hb) variants with increased oxygen affinity. Here we describe a beta-globin variant found by isoelectric focusing (IEF) of Hb from a 23-year-old Swedish male with moderate erythrocytosis. Amplification of DNA corresponding to the beta-globin gene and subsequent nucleotide sequencing revealed heterozygosity for a GTG-->GAG mutation at codon 20, thus suggesting a Val-->Glu substitution, which was confirmed at the protein level. This mutation occurs at the same position as Hb Olympia [beta 20(B2)Val-->Met], another variant associated with erythrocytosis due to increased oxygen affinity. The novel variant, Hb Trollhättan [beta 20(B2)Val-->Glu], which was also associated with increased oxygen affinity, was shown to be present in three generations of the patient's family.
authors.affiliation: Department of Clinical Chemistry, University of Lund, Malmö General Hospital, Sweden.
authors.forename: B
authors.initials: B
authors.lastname: Landin
authors.forename: S
authors.initials: S
authors.lastname: Berglund
authors.forename: B
authors.initials: B
authors.lastname: Lindoff
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D003062:Codon; D004247:DNA / Q000737:chemistry; D005914:Globins / Q000235:genetics; D005971:Glutamates; D018698:Glutamic Acid; D006239:Haplotypes; D006455:Hemoglobins, Abnormal / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010100:Oxygen / Q000097:blood*; D011086:Polycythemia / Q000097:blood* / Q000235:genetics; D013548:Sweden; D014633:Valine
chemical_list: D003062:Codon; D005971:Glutamates; D006455:Hemoglobins, Abnormal; C088867:hemoglobin Trollhattan; D018698:Glutamic Acid; D005914:Globins; D004247:DNA; D014633:Valine; D010100:Oxygen