Hemoglobin Pyrgos (beta83 Gly replaced by Asp) in a Japanese family.
A screening survey for abnormal hemoglobins at a hospital in Mizunami city, Gifu prefecture, Japan detected a fast-moving variant of hemoglobin in a family of Japanese origin. The abnormal hemoglobin constitutes about 45 percent of the total hemoglobin from the propositus and another carrier in the family, but neither of these persons had anemia, jaundice, cyanosis or splenomegaly. Structural analysis of this hemoglobin revealed that the amino acid substitution was at residue 83 in the beta chain, where a glycine was replaced by an aspartic acid. This hemoglobin variant has been previously reported in a Greek child (hemoglobin Pyrgos) (1). Oxygen affinity of hemoglobin Pyrgos was found to be normal.
D000368:Aged; D000596:Amino Acids / Q000032:analysis; D001224:Aspartic Acid; D005260:Female; D005998:Glycine; D006455:Hemoglobins, Abnormal / Q000032:analysis* / Q000378:metabolism; D006801:Humans; D010101:Oxygen Consumption; D010446:Peptide Fragments / Q000032:analysis
D000596:Amino Acids; D006455:Hemoglobins, Abnormal; D010446:Peptide Fragments; D001224:Aspartic Acid; D005998:Glycine