Title: A Mosaic Expression of a Hb J-Amiens (HBB: c.54G > T; p.Lys18Asn) and its Interference with Hb A1c Analysis
Authors: Schiemsky, Toon ×
Van Hoovels, Lieve
Desmet, Koen
Phylipsen, Marion
Harteveld, Cornelis L
Kieffer, Davy #
Issue Date: Dec-2015
Publisher: Marcel Dekker
Series Title: Hemoglobin vol:39 issue:6 pages:435-7
Article number: 10.3109/03630269.2015.1079218
Abstract: We report the case of a 56-year-old Caucasian woman in whom hemoglobinopathy screening was triggered following an aberrant Hb A1c analysis. Preliminary diagnosis of the hemoglobin (Hb) variant was obtained through cation exchange high performance liquid chromatography (HPLC) and gel electrophoresis. DNA analysis confirmed the presence of Hb J-Amiens [β17(A14)Lys→Asn; HBB: c.[54G > C or 54G > T)]. However, an unbalanced ratio between wild type and mutant signal after direct sequencing and a lower than expected percentage of this Hb variant led to the suggestion of a mosaic expression. Furthermore, different methods [capillary zone electrophoresis (CZE), cation exchange HPLC and boronate affinity] were tested to study the possible interference of this variant with Hb A1c measurements. These investigations showed a clinically relevant difference between the methods tested. Hb A1c analysis may lead to the discovery of new Hb variants or mosaicism for previously described Hb variants. This may have genetic consequences for the offspring of carriers and brings about the question of partner testing.
ISSN: 0363-0269
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Microbiology & Immunology - miscellaneous
Faculty of health and social work - UC Leuven
× corresponding author
# (joint) last author

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