title: Hemoglobin hafnia: alpha 2 (beta 116 (G18) His----Gln)2; a new hemoglobin variant mistaken for glycated hemoglobin.
abstract: Isoelectric focusing of hemolysate from patients with diabetes mellitus is routinely performed to measure their level of HbA1c (glycated hemoglobin). For a 6 year old boy with diabetes mellitus this analysis showed an HbA1c fraction of approx. 50%, which is very unlikely to occur. The possibility of a hemoglobin variant was considered, and by HPLC-separation the presence of two different beta-chains was shown. One tryptic fragment was found to deviate from the normal, and amino-acid analysis and sequence determination revealed the following amino-acid substitution: beta 116 His----Gln. It is the first reported mutation at this position. Functional studies showed almost normal behaviour, consistent with the fact that the affected persons are without any symptoms. In a family survey we found five nondiabetic members with an abnormality similar to the proband. For the variant we chose the name Hafnia, which is Latin for Copenhagen.
authors.affiliation: Department of Clinical Chemistry, Rigshospitalet, University of Copenhagen, Denmark.
authors.forename: S
authors.initials: S
authors.lastname: Blanke
authors.forename: A
authors.initials: A
authors.lastname: Johnsen
authors.forename: P D
authors.initials: PD
authors.lastname: Wimberley
authors.forename: H B
authors.initials: HB
authors.lastname: Mortensen
mesh_terms: D000595:Amino Acid Sequence; D002648:Child; D002851:Chromatography, High Pressure Liquid; D003922:Diabetes Mellitus, Type 1 / Q000097:blood / Q000235:genetics; D006442:Glycated Hemoglobin / Q000032:analysis*; D006455:Hemoglobins, Abnormal / Q000032:analysis*; D006801:Humans; D007525:Isoelectric Focusing; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree
chemical_list: D006442:Glycated Hemoglobin; D006455:Hemoglobins, Abnormal; C056690:hemoglobin Hafnia