title: PIEZO1 gene mutation in a Japanese family with hereditary high phosphatidylcholine hemolytic anemia and hemochromatosis-induced diabetes mellitus.
abstract: Hereditary xerocytosis (HX) or dehydrated hereditary stomatocytosis (DHS) [OMIM 194380], in which PIEZO1 gene mutation has recently been identified, is difficult to diagnose. We report here the discovery of a PIEZO1 gene mutation in a Japanese family (father, daughter, and son) who were previously diagnosed with hereditary high phosphatidylcholine hemolytic anemia (HPCHA). All of the affected family members had non-spherocytic hemolytic anemia associated with severe hemochromatosis-related diabetes mellitus. Although the causative correlation between HPCHA and PIEZO1-gene mutated HX/DHS remains to be clarified, our findings raise an important question as to whether any of the HPCHA cases previously diagnosed in Japan may have in fact been the form of hemolytic anemia known as HX/DHS with PIEZO1 gene mutation.
authors.affiliation: Divisions of Laboratory Medicine or Internal Medicine, Uji-Tokushukai Medical Center, Uji-Tokushukai Medical Center, 145 Ishibashi, Makishima-cho, Uji, Kyoto, 611-0041, Japan. shinim95@mbox.kyoto-inet.or.jp.
authors.forename: Shinsaku
authors.initials: S
authors.lastname: Imashuku
authors.affiliation: Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.
authors.forename: Hideki
authors.initials: H
authors.lastname: Muramatsu
authors.affiliation: Department of Hematology, Kawasaki Medical School, Kurashiki, Japan.
authors.forename: Takashi
authors.initials: T
authors.lastname: Sugihara
authors.affiliation: Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.|Center for Advanced Medicine and Clinical Research, Nagoya University Hospital, Nagoya, Japan.
authors.forename: Yusuke
authors.initials: Y
authors.lastname: Okuno
authors.affiliation: Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.
authors.forename: Xinan
authors.initials: X
authors.lastname: Wang
authors.affiliation: Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
authors.forename: Kenichi
authors.initials: K
authors.lastname: Yoshida
authors.affiliation: Laboratory of Medicine, Aichi Gakuin University School of Pharmacy, Nagoya, Japan.
authors.forename: Ayako
authors.initials: A
authors.lastname: Kato
authors.affiliation: Laboratory of Medicine, Aichi Gakuin University School of Pharmacy, Nagoya, Japan.
authors.forename: Koichi
authors.initials: K
authors.lastname: Kato
authors.affiliation: Laboratory of Medicine, Aichi Gakuin University School of Pharmacy, Nagoya, Japan.
authors.forename: Yasuaki
authors.initials: Y
authors.lastname: Tatsumi
authors.affiliation: Department of Hospital Pharmacy, Nagoya University, Nagoya, Japan.
authors.forename: Ai
authors.initials: A
authors.lastname: Hattori
authors.affiliation: Divisions of Laboratory Medicine or Internal Medicine, Uji-Tokushukai Medical Center, Uji-Tokushukai Medical Center, 145 Ishibashi, Makishima-cho, Uji, Kyoto, 611-0041, Japan.
authors.forename: Shinya
authors.initials: S
authors.lastname: Kita
authors.affiliation: Divisions of Laboratory Medicine or Internal Medicine, Uji-Tokushukai Medical Center, Uji-Tokushukai Medical Center, 145 Ishibashi, Makishima-cho, Uji, Kyoto, 611-0041, Japan.
authors.forename: Keishi
authors.initials: K
authors.lastname: Oe
authors.affiliation: Divisions of Laboratory Medicine or Internal Medicine, Uji-Tokushukai Medical Center, Uji-Tokushukai Medical Center, 145 Ishibashi, Makishima-cho, Uji, Kyoto, 611-0041, Japan.
authors.forename: Atsushi
authors.initials: A
authors.lastname: Sueyoshi
authors.affiliation: Clinical Research Institute, National Hospital Organization Kyoto Medical Center, Kyoto, Japan.
authors.forename: Takeshi
authors.initials: T
authors.lastname: Usui
authors.affiliation: Laboratory of DNA Information Analysis, Human Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo, Japan.
authors.forename: Yuichi
authors.initials: Y
authors.lastname: Shiraishi
authors.affiliation: Laboratory of DNA Information Analysis, Human Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo, Japan.
authors.forename: Kenichi
authors.initials: K
authors.lastname: Chiba
authors.affiliation: Laboratory of Sequence Analysis, Human Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo, Japan.
authors.forename: Hiroko
authors.initials: H
authors.lastname: Tanaka
authors.affiliation: Laboratory of DNA Information Analysis, Human Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo, Japan.|Laboratory of Sequence Analysis, Human Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo, Japan.|Health Intelligence Center, Institute of Medical Science, The University of Tokyo, Tokyo, Japan.
authors.forename: Satoru
authors.initials: S
authors.lastname: Miyano
authors.affiliation: Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
authors.forename: Seishi
authors.initials: S
authors.lastname: Ogawa
authors.affiliation: Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.
authors.forename: Seiji
authors.initials: S
authors.lastname: Kojima
authors.affiliation: Department of Transfusion Medicine and Cell Processing, Tokyo Women's Medical University, Tokyo, Japan.
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Kanno
mesh_terms: D000745:Anemia, Hemolytic, Congenital / Q000175:diagnosis* / Q000235:genetics*; D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000175:diagnosis / Q000235:genetics*; D044466:Asian People; D003920:Diabetes Mellitus / Q000209:etiology*; D005192:Family Health; D005260:Female; D006432:Hemochromatosis / Q000150:complications; D006801:Humans; D015160:Hydrops Fetalis / Q000175:diagnosis; D007473:Ion Channels / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree; D010713:Phosphatidylcholines
chemical_list: D007473:Ion Channels; C515204:PIEZO1 protein, human; D010713:Phosphatidylcholines
keywords: Hemochromatosis; Hereditary high phosphatidylcholine hemolytic anemia; Macrocytic hemolytic anemia; PIEZO1 gene mutation; Stomatocytosis