title: A case of hemoglobin Hiroshima (β146 histidine to aspartic acid) with compensatory erythremia and undetectable HbA₁c.
abstract: Hemoglobin (Hb) Hiroshima is an Hb variant that travels rapidly on electrophoresis and shows a fourfold increase in oxygen affinity and a decreased Bohr effect. We encountered a 40-year-old male patient with erythremia and an undetectable HbA(1c) level. The presence of an abnormal hemoglobin molecule was suggested by the results of high-performance liquid chromatography analysis. Subsequent gene analysis by direct sequencing confirmed Hb Hiroshima (β146 histidine → aspartic acid). Caution should be exercised when diagnosing erythremia.
authors.affiliation: Department of Internal Medicine, Teraoka Memorial Hospital, Fukuyama, Japan. n-mori@md.okayama-u.ac.jp
authors.forename: Hisakazu
authors.initials: H
authors.lastname: Nishimori
authors.forename: Keiko
authors.initials: K
authors.lastname: Harano
authors.forename: Hideho
authors.initials: H
authors.lastname: Wada
authors.forename: Satoshi
authors.initials: S
authors.lastname: Takano
authors.forename: Shinji
authors.initials: S
authors.lastname: Fukuda
authors.forename: Yukihito
authors.initials: Y
authors.lastname: Takehara
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Matsumoto
authors.forename: Isao
authors.initials: I
authors.lastname: Kumagai
authors.forename: Mitsune
authors.initials: M
authors.lastname: Tanimoto
authors.forename: Sho
authors.initials: S
authors.lastname: Takeda
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D001483:Base Sequence; D006442:Glycated Hemoglobin / Q000378:metabolism*; D006455:Hemoglobins, Abnormal / Q000032:analysis / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D011087:Polycythemia Vera / Q000175:diagnosis / Q000235:genetics*
chemical_list: D006442:Glycated Hemoglobin; D006455:Hemoglobins, Abnormal