title: Identification of the First Japanese Family Harboring a Novel Hemoglobin Variant "Perpignan", Which Caused Low HbA1c 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).
authors.affiliation: Department of Medicine, Yokohama Rosai Hospital, 3211 Kozukue-cho, Kohoku-ku, Yokohama City, 222-0036, Japan.
authors.forename: Mami
authors.initials: M
authors.lastname: Nakamura
authors.forename: Ayako
authors.initials: A
authors.lastname: Miyazaki
authors.forename: Takayuki
authors.initials: T
authors.lastname: Takubo
authors.forename: Yoko
authors.initials: Y
authors.lastname: Matsuzawa
authors.forename: Jun
authors.initials: J
authors.lastname: Saito
authors.forename: Masao
authors.initials: M
authors.lastname: Omura
authors.forename: Tetsuo
authors.initials: T
authors.lastname: Nishikawa
keywords: Perpignan; diabetic; hemoglobin variant