Interference of Hb J-Sardegna on HbA1c Quantification in a Diabetic Patient

Hb J-Sardegna represents a rare hemoglobin (Hb) variant with no previously documented interference in HbA1c quantification. In this study, we report the first case of Hb J-Sardegna incidentally identified in a diabetic patient, demonstrating significant discordance between measured blood glucose levels and disproportionately elevated HbA1c values.

The patient presented to our institution for follow-up evaluation of thyroid nodules, during which diabetes screening was clinically indicated. Plasma glucose levels were measured using biochemical analyzers, while HbA1c quantification was performed by high-performance liquid chromatography (HPLC). Hb fractions analysis was conducted by capillary electrophoresis (CE), with subsequent confirmation of the suspected variant through Sanger sequencing.

Laboratory investigations revealed markedly elevated glucose levels (fasting: 8.79 mmol/L; 2-hour postprandial: 18.09 mmol/L), while HPLC analysis demonstrated a discordantly elevated HbA1c of 32.23%. CE identified an abnormal Hb fraction (Hb J peak: 31.8%), with subsequent Sanger sequencing confirming the presence of Hb J-Sardegna (HBA2:c.151C>G) and the intronic variant IVS-II-89T>C (HBA1:c.301-61T>C). Notably, all hematological parameters remained within normal ranges.

This study reports for the first time that Hb J-Sardegna can interfere with HbA1c quantification, highlighting the importance for laboratory technicians to carefully interpret chromatographic profiles when analyzing HbA1c results.