Identification of a rare variant haemoglobin (Hb Sinai-Baltimore) causing spuriously low haemoglobin A(1c) values on ion exchange chromatography

• Published in: Annals of clinical biochemistry Vol. 50; no. Pt 1; p. 83
• Main Authors: Smith, Geoff, Murray, Heather, Brennan, Stephen O
• Format: Journal Article
• Language: English
• Published: England 01.01.2013
• Subjects: Aged, 80 and over; Amino Acid Substitution; Chromatography, Ion Exchange; Glycated Hemoglobin A - analysis; Glycated Hemoglobin A - chemistry; Glycated Hemoglobin A - genetics; Hemoglobinopathies - blood; Hemoglobinopathies - diagnosis; Hemoglobinopathies - genetics; Hemoglobins, Abnormal - chemistry; Hemoglobins, Abnormal - genetics; Hemoglobins, Abnormal - isolation & purification; Humans; Male; Sequence Analysis, DNA
• ISSN: 1758-1001
• DOI: 10.1258/acb.2012.012103

Commonly used methods for assay of haemoglobin A(1c) (HbA(1c)) are susceptible to interference from the presence of haemoglobin variants. In many systems, the common variants can be identified but scientists and pathologists must remain vigilant for more subtle variants that may result in spuriously high or low HbA(1c) values. It is clearly important to recognize these events whether HbA(1c) is being used as a monitoring tool or, as is increasingly the case, for diagnostic purposes. We report a patient with a rare haemoglobin variant (Hb Sinai-Baltimore) that resulted in spuriously low values of HbA(1c) when assayed using ion exchange chromatography, and the steps taken to elucidate the nature of the variant.