Abstract

A variant of haemoglobin A, named earlier haemoglobin Hijiyama, was found in three generations of a Finnish family in connection with the determination of glycosylated haemoglobin of a diabetic patient. The biochemical abnormality is in the beta-chain at residue 120 where lysine is replaced by glutamic acid. In the heterozygote carriers of the abnormal haemoglobin there was no apparent association with clinical or haematological abnormalities. By isoelectric focusing in thin-layer polyacrylamide gels, haemoglobin Hijiyama could be distinguished with high specificity from haemoglobin A as well as from other haemoglobin variants earlier found in Finland. The glycosylated haemoglobin fractions (haemoglobin A1 and haemoglobin Hijiyama 1) in the diabetic patient sample could be determined by colorimetric and electrophoretic methods.

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