Haemoglobin Etobicoke, an incidental finding in an Irish diabetic.
It is well recognized that haemoglobin variants can be detected during the measurement of HbA1c by high-performance liquid chromatography (HPLC). A number of variants have been reported as compromising the quantification of HbA1c, a marker used in the assessment of glycaemic control in diabetes. We describe a case of haemoglobin Etobicoke, a rare alpha chain variant detected in an Irish diabetic during HbA1c analysis. Its identity was confirmed using a series of investigations. These included haemoglobin electrophoresis at alkaline and acid pH, isoelectric focusing and globin chain electrophoresis. Ultimately mass spectrometry isolated the mutation at position alpha 84 (F5). Haemoglobin Etobicoke, first described in Canada in 1969 has not previously been detected on HbA1c analysis. In the presence of this rare variant, HbA1c, a standard method using HPLC to assess glycaemic control in diabetes is unreliable and alternatives such as fructosamine need to be considered. HbA1c measured by automated HPLC will effectively screen populations where haemoglobin variants were not previously known. Precise identity of these variants when they are detected is crucial to the reliable interpretation of HbA1c analyses.
O'Brien
D A
DA
Department of Haematology, St James's Hospital, Dublin, Ireland. dobrien@stjames.ie
Flynn
C M
CM
Chuk
P
P
Gorman
C
C
Wild
B
B
Browne
P V
PV
D001797:Blood Protein Electrophoresis; D002851:Chromatography, High Pressure Liquid; D003924:Diabetes Mellitus, Type 2 / Q000097:blood*; D005188:False Negative Reactions; D005914:Globins / Q000235:genetics; D006442:Glycated Hemoglobin / Q000032:analysis*; D006455:Hemoglobins, Abnormal / Q000032:analysis* / Q000235:genetics; D006801:Humans; D033162:Incidental Findings; D007494:Ireland; D007525:Isoelectric Focusing; D021241:Spectrometry, Mass, Electrospray Ionization
D005914:Globins; D006442:Glycated Hemoglobin; D006455:Hemoglobins, Abnormal; C037200:hemoglobin Etobicoke