A family with hemoglobin Hirosaki.
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.
Tanaka
Yoshinori
Y
Division of Hematology, Department of Medicine, Yamaguchi Prefecture Central Hospital, Hofu, Japan.
Matsui
Kumiko
K
Matsuda
Kazuhiro
K
Shinohara
Kenji
K
Haranob
Keiko
K
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
D006455:Hemoglobins, Abnormal; C505812:hemoglobin Hirosaki