title: A novel base change leading to Hb Vanderbilt [β89(F5)Ser→Arg, AGT>AGA].
abstract: We describe a high oxygen affinity hemoglobin (Hb) variant (Hb Vanderbilt) as a result of a heterozygous novel base change from T to A at codon 89 (AGT>AGA) leading to an amino acid change from serine to arginine.
authors.affiliation: Department of Haematology, University College Hospital, Galway, Republic of Ireland. mjgoodyer@yahoo.com
authors.forename: Matthew J
authors.initials: MJ
authors.lastname: Goodyer
authors.forename: Ezzat I
authors.initials: EI
authors.lastname: Elhassadi
authors.forename: Melanie J
authors.initials: MJ
authors.lastname: Percy
authors.forename: Mary F
authors.initials: MF
authors.lastname: McMullin
mesh_terms: D000328:Adult; D001667:Binding, Competitive; D004252:DNA Mutational Analysis; D006455:Hemoglobins, Abnormal / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010100:Oxygen / Q000378:metabolism; D011485:Protein Binding; D055544:beta-Globins / Q000235:genetics* / Q000378:metabolism
chemical_list: D006455:Hemoglobins, Abnormal; D055544:beta-Globins; C568630:hemoglobin Vanderbilt; D010100:Oxygen