Clinical features and biochemical aspects of red blood cells in Hb Hirosaki.
Hb Hirosaki is a new unstable variant in which CE 1 phenylalanine of alpha-chain is substituted by leucine. Seven patients with hemolytic anemia were found in one family and Hb Hirosaki was detected in four of them. In clinical feature some differences of severity were observed between child and adult patients. The child cases showed relatively severe symptoms with repeated hemolytic crises and drug sensitivity. Otherwise most of adult cases had only mild hemolytic process throughout their past life. The variety of clinical severity suggests that the expression of abnormal gene may be various in this disorder. The mode of inheritance seemed to be autosomal dominant and all the cases in this report were heterozygous state. Macrocytic and hypochromic anemia was characteristic in most cases and red blood cells containing Heinz bodies were dominant in peripheral blood from the splenectomized patients. Accelerated glycolysis and enhanced ATPase activity were outstanding features in the metabolism of erythrocyte in this disorder. The instability of reduced glutathione was also found in three of five cases.
D000227:Adenine Nucleotides / Q000032:analysis; D000251:Adenosine Triphosphatases / Q000032:analysis; D000328:Adult; D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000097:blood* / Q000235:genetics; D002648:Child; D004912:Erythrocytes / Q000032:analysis*; D005260:Female; D005978:Glutathione / Q000032:analysis; D006366:Heinz Bodies; D006455:Hemoglobins, Abnormal / Q000032:analysis*; D006801:Humans; D008297:Male
D000227:Adenine Nucleotides; D006455:Hemoglobins, Abnormal; D000251:Adenosine Triphosphatases; D005978:Glutathione