%0 Journal Article
%T Identification of the First Japanese Family Harboring a Novel Hemoglobin Variant ¡°Perpignan¡±, Which Caused Low HbA1c Measurement During Diabetic Follow-Up
%A Mami Nakamura
%A Ayako Miyazaki
%A Takayuki Takubo
%A Yoko Matsuzawa
%A Jun Saito
%A Masao Omura and Tetsuo Nishikawa
%J Japanese Clinical Medicine
%D 2012
%I 
%R 10.4137/JCM.S5971
%X Hemoglobin A1c (HbA1c) is an important parameter for evaluating long-term (6¨C8 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 ¦Â-globin chain had an amino acid replacement that corresponded to glycine to serine substitution at amino acid position 136 of the ¦Â-globin chain (Hb Perpignan). Accordingly, a heterozygotic point mutation replacing guanine by adenine at nucleotide position 406 (¦Â136G > S) was identified in the ¦Â-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 (¦Â136G > S).
%U http://www.la-press.com/identification-of-the-first-japanese-family-harboring-a-novel-hemoglob-article-a2448