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 β globin/a globin chain production. Analysis of the α2 gene demonstrated the presence of a mutation (α43 [CE1] Phe → Leu), hemoglobin Hirosaki.
Key wordsHemolytic anemia Hemoglobinopathy Hb Hirosaki
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- 1.Yokoyama M, Nakamura H, Takabe Y, Nagata K, Izumi Y Hereditary nonspherocytic hemolytic anemia with high activity of erythrocyte ATPase. XII International Congress of Pediatrics; November-December, 1968; Mexico City, Mexico.Memoir. 1968;3:697.Google Scholar
- 2.Ohba Y, Miyaji T, Matsuoka M, Yokoyama M, Numakra H. Hemoglobin Hirosaki (α43 [CE 1] Phe → Leu), a new unstable variant.Biochem Biophys Acta. 1975;405:155–160.Google Scholar
- 7.Matsuda S, Yoshinaka H, Yanagihara T, et al. Two cases of hereditary nonspherocytic hemolytic anemia in a family [in Japanese].Naika. 1978;41:312–315.Google Scholar