title: A family with hemoglobin Hirosaki.
abstract: A 48-year-old man had a 30-year history of hemolytic anemia of undetermined cause. Spherocytes were not observed, osmotic fragility was normal, and red cell enzyme activities were normal. His brother and daughter also had hemolytic anemia. The brother had previously undergone splenectomy, and the anemia had been ameliorated. In the proband and daughter, no abnormal hemoglobin was apparent in the results of isoelectric focusing and DEAE anion-exchange high-performance liquid chromatography analyses. On evaluation with the isopropanol test, unstable hemoglobin was not observed in the proband but was detected in the daughter. There was also a decreased ratio of 3 globin/3 globin chain production. Analysis of the 32 gene demonstrated the presence of a mutation (alpha43 [CE1] Phe --> Leu), hemoglobin Hirosaki.
authors.affiliation: Division of Hematology, Department of Medicine, Yamaguchi Prefecture Central Hospital, Hofu, Japan.
authors.forename: Yoshinori
authors.initials: Y
authors.lastname: Tanaka
authors.forename: Kumiko
authors.initials: K
authors.lastname: Matsui
authors.forename: Kazuhiro
authors.initials: K
authors.lastname: Matsuda
authors.forename: Kenji
authors.initials: K
authors.lastname: Shinohara
authors.forename: Keiko
authors.initials: K
authors.lastname: Haranob
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics*; D000743:Anemia, Hemolytic / Q000097:blood / Q000235:genetics*; D005260:Female; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D017354:Point Mutation; D013102:Spherocytes
chemical_list: D006455:Hemoglobins, Abnormal; C505812:hemoglobin Hirosaki