Identification of the First Japanese Family Harboring a Novel Hemoglobin Variant “Perpignan”, Which Caused Low HbA_1c Measurement During Diabetic Follow-Up

Abstract

Hemoglobin A1c (HbA1c) is an important parameter for evaluating long-term (6–8 weeks) control of blood glucose levels in patients with diabetes mellitus. We report a Japanese diabetic case who harbored abnormal Hb and demonstrated falsely low HbA1c levels in the regular ion exchange HPLC-based assay. His abnormal β-globin chain had an amino acid replacement that corresponded to glycine to serine substitution at amino acid position 136 of the β-globin chain (Hb Perpignan). Accordingly, a heterozygotic point mutation replacing guanine by adenine at nucleotide position 406 (β136G > S) was identified in the β-globin gene of the proband and his son. These results indicate that the patient had Hb Perpignan, and this abnormal Hb interfered with the HPLC-based HbA1c assay commonly used in the clinic. The cases presented are the first report of patients in the Japanese population harboring Hb Perpignan (β136G > S).

Study of a newly developed high-performance liquid chromatography analyser for glycosylated haemoglobin measurements in blood containing haemoglobin variants in the Japanese population

“…In almost all cases, there are no clinical symptoms associated with these variants. 7,8 HbS and HbC are frequently detected in American and African blacks, while HbE is observed in Chinese and Southeast Asian populations. However, these variants are not highly distributed in Japanese populations.…”