title: Iron overload patients with unknown etiology from national survey in Japan.
abstract: Transfusion is believed to be the main cause of iron overload in Japan. A nationwide survey on post-transfusional iron overload subsequently led to the establishment of guidelines for iron chelation therapy in this country. To date, however, detailed clinical information on the entire iron overload population in Japan has not been fully investigated. In the present study, we obtained and studied detailed clinical information on the iron overload patient population in Japan. Of 1109 iron overload cases, 93.1% were considered to have occurred post-transfusion. There were, however, 76 cases of iron overload of unknown origin, which suggest that many clinicians in Japan may encounter some difficulty in correctly diagnosing and treating iron overload. Further clinical data were obtained for 32 cases of iron overload of unknown origin; median of serum ferritin was 1860.5 ng/mL. As occurs in post-transfusional iron overload, liver dysfunction was found to be as high as 95.7% when serum ferritin levels exceeded 1000 ng/mL in these patients. Gene mutation analysis of the iron metabolism-related genes in 27 cases of iron overload with unknown etiology revealed mutations in the gene coding hemojuvelin, transferrin receptor 2, and ferroportin; this indicates that although rare, hereditary hemochromatosis does occur in Japan.
authors.affiliation: Division of Gastroenterology and Hematology/Oncology, Department of Medicine, Asahikawa Medical University, 2-1-1-1, Midorigaoka-Higashi, Asahikawa, Hokkaido, 078-8510, Japan. ikuta@asahikawa-med.ac.jp.
authors.forename: Katsuya
authors.initials: K
authors.lastname: Ikuta
authors.affiliation: Division of Gastroenterology and Hematology/Oncology, Department of Medicine, Asahikawa Medical University, 2-1-1-1, Midorigaoka-Higashi, Asahikawa, Hokkaido, 078-8510, Japan.
authors.forename: Mayumi
authors.initials: M
authors.lastname: Hatayama
authors.affiliation: Division of Gastroenterology and Hematology/Oncology, Department of Medicine, Asahikawa Medical University, 2-1-1-1, Midorigaoka-Higashi, Asahikawa, Hokkaido, 078-8510, Japan.
authors.forename: Lynda
authors.initials: L
authors.lastname: Addo
authors.affiliation: Division of Gastroenterology and Hematology/Oncology, Department of Medicine, Asahikawa Medical University, 2-1-1-1, Midorigaoka-Higashi, Asahikawa, Hokkaido, 078-8510, Japan.
authors.forename: Yasumichi
authors.initials: Y
authors.lastname: Toki
authors.affiliation: Department of Gastrointestinal Immunology and Regenerative Medicine, Asahikawa Medical University, 2-1-1-1, Midorigaoka-Higashi, Asahikawa, Hokkaido, 078-8510, Japan.
authors.forename: Katsunori
authors.initials: K
authors.lastname: Sasaki
authors.affiliation: Laboratory of Medicine, Aichi Gakuin University School of Pharmacy, Nagoya, Aichi, Japan.
authors.forename: Yasuaki
authors.initials: Y
authors.lastname: Tatsumi
authors.affiliation: Laboratory of Medicine, Aichi Gakuin University School of Pharmacy, Nagoya, Aichi, Japan.|Department of Hospital Pharmacy, Nagoya University, Nagoya, Aichi, Japan.
authors.forename: Ai
authors.initials: A
authors.lastname: Hattori
authors.affiliation: Laboratory of Medicine, Aichi Gakuin University School of Pharmacy, Nagoya, Aichi, Japan.
authors.forename: Ayako
authors.initials: A
authors.lastname: Kato
authors.affiliation: Laboratory of Medicine, Aichi Gakuin University School of Pharmacy, Nagoya, Aichi, Japan.
authors.forename: Koichi
authors.initials: K
authors.lastname: Kato
authors.affiliation: Laboratory of Medicine, Aichi Gakuin University School of Pharmacy, Nagoya, Aichi, Japan.
authors.forename: Hisao
authors.initials: H
authors.lastname: Hayashi
authors.affiliation: Division of Hematology, Department of Medicine, Jichi Medical University, Shimotsuke, Tochigi, Japan.
authors.forename: Takahiro
authors.initials: T
authors.lastname: Suzuki
authors.affiliation: Department of Medical Oncology and Hematology, Sapporo Medical University School of Medicine, Sapporo, Hokkaido, Japan.
authors.forename: Masayoshi
authors.initials: M
authors.lastname: Kobune
authors.affiliation: Division of Hematology, Department of Medicine, Juntendo University School of Medicine, Tokyo, Japan.
authors.forename: Miyuki
authors.initials: M
authors.lastname: Tsutsui
authors.affiliation: Division of Hematology, Department of Medicine, Juntendo University School of Medicine, Tokyo, Japan.
authors.forename: Akihiko
authors.initials: A
authors.lastname: Gotoh
authors.affiliation: Department of Internal Medicine, Kohsei Chuo General Hospital, Tokyo, Japan.
authors.forename: Yasuo
authors.initials: Y
authors.lastname: Aota
authors.affiliation: Department of Nephrology, Metabology and Immunology, Sakai City Medical Center, Sakai, Osaka, Japan.
authors.forename: Motoo
authors.initials: M
authors.lastname: Matsuura
authors.affiliation: Tazuke Kofukai Foundation, Medical Research Institute, Kitano Hospital, Osaka, Japan.
authors.forename: Yuzuru
authors.initials: Y
authors.lastname: Hamada
authors.affiliation: Department of Cardiovascular Medicine, Saiseikai Yokohama City Eastern Hospital, Yokohama, Kanagawa, Japan.
authors.forename: Takahiro
authors.initials: T
authors.lastname: Tokuda
authors.affiliation: Division of Hematology, Department of Medicine, Juntendo University School of Medicine, Tokyo, Japan.
authors.forename: Norio
authors.initials: N
authors.lastname: Komatsu
authors.affiliation: Division of Gastroenterology and Hematology/Oncology, Department of Medicine, Asahikawa Medical University, 2-1-1-1, Midorigaoka-Higashi, Asahikawa, Hokkaido, 078-8510, Japan.|Department of Gastroenterology, International University of Health and Welfare, Nasushiobara, Tochigi, Japan.
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Kohgo
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D005260:Female; D005293:Ferritins / Q000097:blood; D006432:Hemochromatosis / Q000175:diagnosis / Q000453:epidemiology; D006801:Humans; D007501:Iron / Q000378:metabolism; D019190:Iron Overload / Q000453:epidemiology* / Q000209:etiology* / Q000235:genetics; D007564:Japan / Q000453:epidemiology; D008107:Liver Diseases / Q000209:etiology; D008297:Male; D053858:Metabolic Networks and Pathways / Q000235:genetics; D008875:Middle Aged; D009154:Mutation; D011795:Surveys and Questionnaires; D065227:Transfusion Reaction; D055815:Young Adult
chemical_list: D005293:Ferritins; D007501:Iron
keywords: Hemochromatosis; Hereditary hemochromatosis; Iron overload; Post-transfusional iron overload