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Iron overload patients with unknown etiology from national survey in Japan

International Journal of Hematology Aims and scope Submit manuscript

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.

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Acknowledgements

The authors thank Dr. Kazuo Notsumata (Fukui-ken Saiseikai Hospital, Fukui, Japan), Dr. Yasuo Miura (Japanese Red Cross Osaka Hospital, Osaka, Japan), Dr. Fumiaki Kimura (Tamano City Hospital, Okayama, Japan), Dr. Satoru Akazawa (Nagasaki University Hospital, Nagasaki, Japan), Dr. Yoshiyasu Karino (Sapporo-Kosei General Hospital, Hokkaido, Japan), Dr. Junichi Koyama (Kin-ikyo Chuo Hospital, Hokkaido, Japan), Dr. Masako Takemoto (Nissay Hospital, Osaka, Japan), Dr. Yoshihiko Kitada (Gifu University Hospital, Gifu, Japan), Dr. Akashi Togawa (Shizuoka Saiseikai General Hospital, Shizuoka, Japan), Dr. Kazuaki Chayama (Hiroshima University Hospital, Hiroshima, Japan), Dr. Shinichi Miyazaki (Tottori Medical Care & Cooperative Society, Tottori, Japan), Dr. Ryushi Tazawa (Niigata University Medical & Dental Hospital, Niigata, Japan), Dr. Mineaki Kitamura (National Hospital Nagasaki Medical Center, Nagasaki, Japan), and Dr. Sachiko Ezoe (Graduate School of Medicine/Faculty of Medicine, Osaka University, Osaka, Japan) for enrollments of iron overloaded patients and obtaining informed consent and explaining the results of gene analysis to their patients.

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Correspondence to Katsuya Ikuta.

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This study was partly supported by the Grants-in-Aid for Scientific Research, Ministry of Health, Labor and Welfare of Japan; Asahikawa Medical University (Yutaka Kohgo, Katsuya Ikuta, Katsunori Sasaki, Mayumi Hatayama, Lynda Addo, Yasumichi Toki), Aichi Gakuin University School of Pharmacy (Yasuaki Tatsumi, Ai Hattori, Ayako Kato, Koichi Kato, Hisao Hayashi), Jichi Medical University (Takahiro Suzuki), Sapporo Medical University School of Medicine (Masayoshi Kobune) received this Grant. Katsuya Ikuta, Mayumi Hatayama, Lynda Addo, Yasumichi Toki, Yutaka Kohgo (Division of Gastroenterology and Hematology/Oncology, Department of Medicine, Asahikawa Medical University), and Katsunori Sasaki (Department of Gastrointestinal Immunology and Regenerative Medicine, Asahikawa Medical University) received collaborative research funding from Shino-Test Corporation, Sysmex Corporation, Ushio Inc., Novartis Pharma K.K., Asahi Kasei Medical Co. Ltd., and Chugai Pharmaceutical Co. Ltd. for iron metabolism research work. Masayoshi Kobune (Department of Medical Oncology and Hematology, Sapporo Medical University School of Medicine) received research funding from Ono Pharmaceutical Co. Ltd. for consignment study. Takahiro Suzuki (Division of Hematology, Department of Medicine, Jichi Medical University) received fees for lectures from Nippon Shinyaku Co. Ltd., fees for lectures and a Grant from Kyowa Hakko Kirin Co. Ltd. Miyuki Tsutsui, Akihiro Gotoh, Yasuo Aota, Motoo Matuura, Yuzuru Hamada, Takahiro Tokuda, and Norio Komatsu have nothing to disclose.

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Ikuta, K., Hatayama, M., Addo, L. et al. Iron overload patients with unknown etiology from national survey in Japan. Int J Hematol 105, 353–360 (2017). https://doi.org/10.1007/s12185-016-2141-9

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  • DOI: https://doi.org/10.1007/s12185-016-2141-9

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