Pathological analysis of congenital hemolytic anemia due to mitochondrial selective autophagy disorder

• Project/Area Number: 16K10041
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Tokyo Women's Medical University
• Principal Investigator: KANNO HITOSHI 東京女子医科大学, 医学部, 教授 (70221207)
• Co-Investigator(Kenkyū-buntansha): 小原 洋志 東京大学, 医科学研究所, 特任講師 (40528733)
• Project Period (FY): 2016-04-01 – 2020-03-31
• Project Status: Completed (Fiscal Year 2019)
• Budget Amount: ¥4,810,000 (Direct Cost: ¥3,700,000、Indirect Cost: ¥1,110,000); Fiscal Year 2018: ¥130,000 (Direct Cost: ¥100,000、Indirect Cost: ¥30,000); Fiscal Year 2017: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000); Fiscal Year 2016: ¥2,600,000 (Direct Cost: ¥2,000,000、Indirect Cost: ¥600,000)
• Keywords: 溶血性貧血 / 無効造血 / 次世代型シークエンサー / 疾患遺伝子パネル / 赤血球膜異常症 / 赤血球酵素異常症 / 赤血球分化 / 細胞周期 / 転写因子 / 先天性赤血球形成異常性貧血 / 赤血球膜タンパク質 / 赤血球酵素 / 赤血球浸透圧脆弱性 / フローサイトメトリー / 新生児溶血性貧血 / 次世代シークエンサー / ターゲット遺伝子シーケンスパネル / 先天性溶血性貧血 / iPS細胞 / 赤芽球分化 / オートファジー / 疾患特異的iPS細胞 / ミトコンドリア

Outline of Final Research Achievements

A total of 255 cases of hemolytic anemia with undetermined causes were analyzed during the four years from 2015-2019. As a result, the disease type could be diagnosed in 188 cases (73.7%). Hereditary spherocytosis (HS) was the most common type, and dehydrated hereditary stomatocytosis (DHSt) was the second. The quantitative flow-cytometric osmotic fragility test (FCM-OF) was shown to be useful as a screening test for DHSt.
In erythroblasts derived from KLF1-CDA patients, the expression of γ-globin gene was significantly increased and the expression of 4.2 protein gene was also markedly decreased in comparison with the normal control. It was suggested that ineffective erythropoiesis was caused by multiple factors responsible for hemoglobin switching and erythrocyte cytoskeleton formation.

Academic Significance and Societal Importance of the Research Achievements

ヒト赤芽球の分化障害（無効造血）や成熟赤血球の早期細胞死（溶血）により様々な先天性貧血が発症する。我々は赤血球膜・酵素・ヘモグロビンなどの異常により発症する先天性溶血性貧血の病因解析を実施し、その74％に病因を確定出来た。本研究では無効造血や溶血の病因解析のための網羅的遺伝子解析システムを構築し、患者iPS細胞から分化した赤芽球を用いた病因解析を実施した。脱水型遺伝性有口赤血球症(DHSt)が遺伝性球状赤血球症に次いで頻度の高い先天性溶血性貧血であることを明らかにし、迅速診断法としてフローサイトメトリーを用いた定量的赤血球浸透圧脆弱性試験（FCM-OF）が有用であることを示した。

Research Products

• [Journal Article] Unexplained Late-Onset Hemolytic Jaundice Preceded by High Fetal Hemoglobin Level in an Extremely Low Birth Weight Infant (2020)
  • Author(s): Kwon GoEun、Okahashi Aya、Nagano Nobuhiko、Nozaki Chihiro、Nakahara Erina、Fuwa Kazumasa、Yagasaki Hiroshi、Kanno Hitoshi、Morioka Ichiro
  • Journal Title: Clinical Laboratory Volume: 66 Issue: 01+02/2020
  • DOI: 10.7754/clin.lab.2019.190625
  • Peer Reviewed / Open Access
• [Journal Article] Primrose syndrome associated with unclassified immunodeficiency and a novel ZBTB20 mutation. (2020)
  • Author(s): Yamamoto-Shimojima K, Imaizumi T, Akagawa H, Kanno H, Yamamoto T.
  • Journal Title: Am J Med Genet A Volume: 182 Issue: 3 Pages: 521-526
  • DOI: 10.1002/ajmg.a.61432
  • Peer Reviewed / Open Access
• [Journal Article] KLF1 Mutation E325K Induces Cell-cycle Arrest in Erythroid Cells Differentiated from Congenital Dyserythropoietic Anemia (CDA) Patient-specific Induced Pluripotent Stem Cells. (2019)
  • Author(s): Kohara H, Utsugisawa T, Sakamoto C, Hirose L, Ogawa Y, Ogura H, Sugawara A, Aoki T, Iwasaki T, Asai T, Doisaki S, Okuno Y, Muramatsu H, Abe T, Kurita R, Miyamoto S, Sakuma T, Shiba M, Yamamoto T, Ohga S, Yoshida K, Ogawa S, Ito E, Kojima S, Kanno H, Tani K.
  • Journal Title: Exp Hematol. Volume: 73 Pages: 25-37
  • DOI: 10.1016/j.exphem.2019.03.001
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Association between SLCO1B1 rs4149056 and tegafur?uracil-induced hepatic dysfunction in breast cancer (2019)
  • Author(s): Kamio Hidenori、Uchiyama Toshitaka、Kanno Hitoshi、Onoe Yoshiko、Saito Kayoko、Kameoka Shingo、Kamio Takako、Okamoto Takahiro
  • Journal Title: Pharmacogenomics Volume: 20 Issue: 5 Pages: 353-365
  • DOI: 10.2217/pgs-2018-0100
  • Peer Reviewed / Open Access
• [Journal Article] Phase I study of cellular therapy using ex vivo expanded NK cell from autologous peripheral blood mononuclear cells combined with rituximab-containing chemotherapy for relapsed CD20-positive malignant lymphoma patients (2019)
  • Author(s): Tanaka Junji、Tanaka Norina、Wang Yan-Hua、Mistuhashi Kenjiro、Ryuzaki Michiko、Iizuka Yuki、Watanabe Aya、Ishiyama Midori、Shinohara Akihito、Kazama Hiroshi、Hagiwara Shotaro、Yoshinaga Kentaro、Kougen Yumi、Kobayashi Hirohito、Kanno Hitoshi、Shiseki Masayuki
  • Journal Title: Haematologica Volume: 105 Issue: 4 Pages: e190-e193
  • DOI: 10.3324/haematol.2019.226696
  • Peer Reviewed / Open Access
• [Journal Article] 遺伝性メトヘモグロビン血症Ⅰ型の兄妹例 (2019)
  • Author(s): 羽賀 洋一、 高橋 浩之、 三井 一賢、 中村 俊紀、 松岡 正樹、 小嶋 靖子、 小倉 浩美、 菅野 仁、 服部 幸夫、小原 明
  • Journal Title: 日本小児科学会雑誌 Volume: 123 Pages: 861-865
  • Peer Reviewed / Open Access
• [Journal Article] 特集 新生児黄疸を再び考える 各論 先天性溶血性疾患 (2019)
  • Author(s): 小倉 浩美、菅野 仁
  • Journal Title: 周産期医学 Volume: 49 Pages: 211-216
• [Journal Article] EFFICACY OF CELL-FREE AND CONCENTRATED ASCITES FOR AUTOLOGOUS ALBUMIN PRODUCTS (2018)
  • Author(s): Utsugisawa Taiju、Kobayashi Ryosuke、Isoai Ayako、Onodera Hirokazu、Matsuno Yoshihiro、Kato Michio、Kanno Hitoshi
  • Journal Title: Japanese Journal of Transfusion and Cell Therapy Volume: 64 Issue: 5 Pages: 631-640
  • DOI: 10.3925/jjtc.64.631
  • NAID: 130007498542
  • ISSN: 1881-3011, 1883-0625
  • Year and Date: 2018-10-25
  • Peer Reviewed
• [Journal Article] <b>In vitro enhancement of ATP in human erythrocytes from a healthy subject and two patients with thalassemia and hemoglobinopathy.</b> (2018)
  • Author(s): Kamatani Naoyuki、Furihata Kenichi、Taniguchi Atsuo、Fukuuchi Tomoko、Yamaoka Noriko、Kaneko Kiyoko、Kanno Hitoshi
  • Journal Title: GOUT AND NUCLEIC ACID METABOLISM Volume: 42 Issue: 1 Pages: 59-64
  • DOI: 10.6032/gnam.42.59
  • NAID: 130007419211
  • ISSN: 1344-9796, 2186-6368
  • Year and Date: 2018-07-25
  • Peer Reviewed
• [Journal Article] Atypical erythroblastosis in a patient with Diamond-Blackfan anemia who developed del(20q) myelodysplasia. (2018)
  • Author(s): Sonoda M, Ishimura M, Ichimiya Y, Terashi E, Eguchi K, Sakai Y, Takada H, Hama A, Kanno H, Toki T, Ito E, Ohga S.
  • Journal Title: Int J Hematol. Volume: 印刷中 Issue: 2 Pages: 228-231
  • DOI: 10.1007/s12185-018-2424-4
  • Peer Reviewed
• [Journal Article] De Novo Mutations Activating Germline TP53 in an Inherited Bone-Marrow-Failure Syndrome (2018)
  • Author(s): Toki Tsutomu、Yoshida Kenichi、Wang RuNan、Okuno Yusuke、Kataoka Keisuke、Shiraishi Yuichi、Ohga Shouichi、Kuramitsu Madoka、Hamaguchi Isao、Ohara Akira、Kanno Hitoshi、Miyano Satoru、Kojima Seiji、Ishiguro Akira、Sugita Kanji、Kenmochi Naoya、Takahashi Satoru、Eto Koji、Ogawa Seishi、Ito Etsuro
  • Journal Title: The American Journal of Human Genetics Volume: 103 Issue: 3 Pages: 440-447
  • DOI: 10.1016/j.ajhg.2018.07.020
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency (2018)
  • Author(s): Paola Bianchi, Elisa Fermo, Bertil Glader, Hitoshi Kanno, Archana Agarwal, Wilma Barcellini, Stefan Eber, James D. Hoyer, David J. Kuter, Serge Pissard, Eduard van Beers, Patrick G. Gallagher, David C. Rees, Richard van Wijk
  • Journal Title: American Journal of Hematology Volume: 94 Issue: 1 Pages: 149-161
  • DOI: 10.1002/ajh.25325
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Whole-exome analysis to detect congenital hemolytic anemia mimicking congenital dyserythropoietic anemia (2018)
  • Author(s): Hamada Motoharu、Doisaki Sayoko、Okuno Yusuke、Muramatsu Hideki、Hama Asahito、Kawashima Nozomu、Narita Atsushi、Nishio Nobuhiro、Yoshida Kenichi、Kanno Hitoshi、Manabe Atsushi、Taga Takashi、Takahashi Yoshiyuki、Miyano Satoru、Ogawa Seishi、Kojima Seiji
  • Journal Title: International Journal of Hematology Volume: 108 Issue: 3 Pages: 306-311
  • DOI: 10.1007/s12185-018-2482-7
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] HbA1cが偽低値をしめしたエノラーゼ、異常症合併2型糖尿病の1例 (2018)
  • Author(s): 井島廣子、古賀正史、杉山正悟、小倉浩美、菅野 仁、陣内秀昭
  • Journal Title: Diabetes Journal Volume: 46 Pages: 30-34
  • Peer Reviewed
• [Journal Article] 血球酵素とその異常. 特集 赤血球造血のメカニズムとその異常－最近の進歩― (2018)
  • Author(s): 小倉 浩美、菅野 仁
  • Journal Title: 血液フロンティア Volume: 28 Pages: 1333-1341
• [Journal Article] 新生児の遺伝性溶血性貧血～疾患概念の拡張～ (2018)
  • Author(s): 大賀 正一、石村 匡崇、槍澤 大樹、菅野 仁
  • Journal Title: 日本産婦人科・新生児血液学会誌 Volume: 27 Pages: 41-47
  • Peer Reviewed
• [Journal Article] SURVEY OF THE STATUS OF INTRAVENOUS IMMUNOGLOBULIN (IVIG) PRODUCTS: TRANSITION IN RECENT YEARS AT TOKYO WOMEN&apos;S MEDICAL UNIVERSITY HOSPITAL (2018)
  • Author(s): 中林 恭子, 松田 和樹, 小林 博人, 小野 慎吾, 岩﨑 拓也, 久保田 友晶, 守屋 友美, 緒方 康貴, 及川 美幸, 木下 明美, 青木 貴子, 千野 峰子, 岡田 真一, 高源 ゆみ, 青木 正弘, 岡本 好雄, 今野 マユミ, 槍澤 大樹, 小倉 浩美, 菅野 仁
  • Journal Title: Japanese Journal of Transfusion and Cell Therapy Volume: 64 Issue: 1 Pages: 21-27
  • DOI: 10.3925/jjtc.64.21
  • NAID: 130006513931
  • ISSN: 1881-3011, 1883-0625
  • Peer Reviewed
• [Journal Article] Worldwide study of hematopoietic allogeneic stem cell transplantation in pyruvate kinase deficiency (2017)
  • Author(s): van Straaten Stephanie、Bierings Marc、Bianchi Paola、Smiers Frans、Raymakers Reinier、Yanez Lucrecia、Sevilla Julian、van Solinge Wouter、Segovia Jose Carlos、van Wijk Richard
  • Journal Title: Haematologica Volume: 103 Issue: 2 Pages: e82-e86
  • DOI: 10.3324/haematol.2017.177857
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] マイクロプレート法による赤血球浸透圧抵抗試験とeosin-5-maleimideを用いた赤血球膜band3定量法が診断に有用であった新生児期に重症黄疸を発症した赤血球膜蛋白異常症の1例 (2017)
  • Author(s): 西本瑛里、西久保敏也、釜本智之、石原卓、山口直子、菅野 仁、高橋幸博
  • Journal Title: 日本産婦人科・新生児血液学会誌 Volume: 26 Pages: 71-76
  • Peer Reviewed
• [Journal Article] A novel PGK1 mutation associated with neurological dysfunction and the absence of episodes of hemolytic anemia or myoglobinuria (2017)
  • Author(s): Matsumaru S, Oguni H, Ogura H, Shimojima K, Nagata S, Kanno H, Yamamoto T
  • Journal Title: Intractable Rare Diseases Research Volume: 6 Issue: 2 Pages: 132-136
  • DOI: 10.5582/irdr.2017.01020
  • NAID: 130005695959
  • Peer Reviewed / Open Access
• [Journal Article] 循環系の基礎と臨床（２）血管新生 (2017)
  • Author(s): 槍澤 大樹、菅野 仁
  • Journal Title: 東京女子医科大学雑誌 Volume: 87 Pages: 5-12
  • Peer Reviewed
• [Journal Article] 貧血学-最新の診断・治療動向-V溶血性貧血 赤血球酵素異常症・不安定ヘモグロビン症 (2017)
  • Author(s): 小倉 浩美、菅野 仁
  • Journal Title: 日本臨床 Volume: 75 Pages: 472-477
• [Journal Article] Exome sequencing identified RPS15A as a novel causative gene for Diamond-Blackfan anemia. (2017)
  • Author(s): Ikeda F, Yoshida K, Toki T, Uechi T, Ishida S, Nakajima Y, Sasahara Y, Okuno Y, Kanezaki R, Terui K, Kamio T, Kobayashi A, Fujita T, Sato-Otsubo A, Shiraishi Y, Tanaka H, Chiba K, Muramatsu H, Kanno H, Ohga S, Ohara A, Kojima S, Kenmochi N, Miyano S, Ogawa S, Ito E.
  • Journal Title: Haematologica. Volume: - Issue: 3 Pages: e93-e96
  • DOI: 10.3324/haematol.2016.153932
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] Discrimination of Diamond-Blackfan anemia from parvovirus B19 infection by RBC glutathione (2017)
  • Author(s): Noguchi Jun、Kanno Hitoshi、Chiba Yuta、Ito Etsuro、Ishiguro Akira
  • Journal Title: Pediatrics International Volume: 59 Issue: 7 Pages: 838-840
  • DOI: 10.1111/ped.13284
  • Peer Reviewed / Open Access
• [Journal Article] Early-onset parkinsonism in a pedigree with phosphoglycerate kinase deficiency and a heterozygous carrier: do PGK-1 mutation contribute to vulnerability to parkinsonism? (2017)
  • Author(s): Satoshi Sakaue, Takashi Kasai, Ikuko Mizuta, Masaya Suematsu, Shinya Osone, Yumiko Azuma, Toshihiko Imamura, Takahiko Tokuda, Hitoshi Kanno, Omar M.A. El-Agnaf, Masafumi Morimoto, Masanori Nakagawa, Hajime Hosoi and Toshiki Mizuno
  • Journal Title: NPJ Parkinsons Disease Volume: 31
  • Peer Reviewed / Open Access
• [Journal Article] Successful long-term management with low-dose prednisolone in an adult patient with Diamond-Blackfan anemia (2017)
  • Author(s): 小笠原 壽恵、川内 喜代隆、森 直樹、佐倉 宏、加藤 文代、菅野 仁、伊藤 悦朗
  • Journal Title: Rinsho Ketsueki Volume: 58 Issue: 8 Pages: 917-921
  • DOI: 10.11406/rinketsu.58.917
  • NAID: 130006067981
  • ISSN: 0485-1439, 1882-0824
  • Peer Reviewed
• [Journal Article] Splenectomy resolves hemolytic anemia caused by adenylate kinase deficiency (2017)
  • Author(s): Niizuma Hidetaka、Kanno Hitoshi、Sato Atsushi、Ogura Hiromi、Imaizumi Masue
  • Journal Title: Pediatr Int Volume: 59 Issue: 2 Pages: 228-230
  • DOI: 10.1111/ped.13166
  • Peer Reviewed / Open Access
• [Journal Article] Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes. (2017)
  • Author(s): Muramatsu H, Okuno Y, Yoshida K, Shiraishi Y, Doisaki S, Narita A, Sakaguchi H, Kawashima N, Wang X, Xu Y, Chiba K, Tanaka H, Hama A, Sanada M, Takahashi Y, Kanno H, Yamaguchi H, Ohga S, Manabe A, Harigae H, Kunishima S, Ishii E, Kobayashi M, Koike K, Watanabe K, Ito E, Takata M, Yabe M, Ogawa S, Miyano S, Kojima S.
  • Journal Title: Genet Med. Volume: - Issue: 7 Pages: 796-802
  • DOI: 10.1038/gim.2016.197
  • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] Diagnostic challenge of Diamond-Blackfan anemia in mothers and children by whole-exome sequencing (2017)
  • Author(s): Ichimura T, Yoshida K, Okuno Y, Yujiri T, Nagai K, Nishi M, Shiraishi Y, Ueno H, Toki T, Chiba K, Tanaka H, Muramatsu H, Hara T, Kanno H, Kojima S, Miyano S, Ito E, Ogawa S, Ohga S.
  • Journal Title: Int J Hematol. Volume: 105 Issue: 4 Pages: 515-520
  • DOI: 10.1007/s12185-016-2151-7
  • Peer Reviewed / Open Access
• [Journal Article] Diagnostic challenge of Diamond-Blackfan anemia in mothers and children by whole-exome sequencing (2017)
  • Author(s): Ichimura T, Yoshida K, Okuno Y, Yujiri T, Nagai K, Nishi M, Shiraishi Y, Ueno H, Toki T, Chiba K, Tanaka H, Muramatsu H, Hara T, Kanno H, Kojima S, Miyano S, Ito E, Ogawa S, Ohga S
  • Journal Title: Int J Hematol. Volume: 105 Pages: 515-520
  • Peer Reviewed
• [Journal Article] Erythrocyte glutathione is a novel biomarker of Diamond-Blackfan anemia (2016)
  • Author(s): Utsugisawa T, Uchiyama T, Toki T, Ogura H, Aoki T, Hamaguchi I, Ishiguro A, Ohara A, Kojima S, Ohga S, Ito E, Kanno H
  • Journal Title: Blood Cells, Molecules and Diseases Volume: 59 Pages: 31-36
  • DOI: 10.1016/j.bcmd.2016.03.007
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] PIEZO1 gene mutation in a Japanese family with hereditary high phosphatidylcholine hemolytic anemia and hemochromatosis-induced diabetes mellitus. (2016)
  • Author(s): Imashuku S, Muramatsu H, Sugihara T, Okuno Y, Wang X, Yoshida K, Kato A, Tatsumi Y, Hattori A, Kita S, Oe K, Sueyoshi A, Usui T, Shiraishi Y, Chiba K, Tanaka H, Miyano S, Ogawa S, Kojima S, Kanno H
  • Journal Title: Int J Hematol Volume: 印刷中 Issue: 1 Pages: 125-129
  • DOI: 10.1007/s12185-016-1970-x
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] ALDH2 polymorphism in patients with Diamond-Blackfan anemia in Japan. (2016)
  • Author(s): Ikeda F, Toki T, Kanezaki R, Terui K, Yoshida K, Kanno H, Ohga S, Ohara A, Kojima S, Ogawa S, Ito E.
  • Journal Title: Int J Hematol. Volume: 103 Issue: 1 Pages: 112-114
  • DOI: 10.1007/s12185-015-1891-0
  • Peer Reviewed
• [Journal Article] ATP11C is a major flippase in human erythrocytes and its defect causes congenital hemolytic anemia (2016)
  • Author(s): Arashiki N, Takakuwa Y, Mohandas N, Hale J, Yoshida K, Ogura H, Utsugisawa T, Ohga S, Miyano S, Ogawa S, Kojima S, Kanno H
  • Journal Title: Haematologica Volume: 101 Pages: 559-565
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Presentation] A Global Longitudinal Observational Study Of Patients With Pyruvate Kinase Deficiency (2019)
  • Author(s): Paola Bianchi, Bertil Glader, Rachael F. Grace, Hitoshi Kanno, D. Mark Layton, Eduard J. van Beers, Joan-Lluis Vives Corrons, Lei Hua, Bryan Jones
  • Organizer: American Society of Pediatric Hematology/Oncology Conference
  • Int'l Joint Research
• [Presentation] Differential Diagnosis Of Congenital Hemolytic Anemia Of Neonates And Infants In Japan (2019)
  • Author(s): Hiromi Ogura, Taiju Utsugisawa, Takako Aoki, Akemi Kinoshita, Yoshio Okamoto, Takahiro Kawasaki, Toshiyuki Yamamoto, Hitoshi Kanno
  • Organizer: European Hematology Association
  • Int'l Joint Research
• [Presentation] Meta-Analysis Using Data Of Red Blood Cel Enzyme Assay And Proteome In Patients With Diamond-Blackfan Anemia. (2019)
  • Author(s): Taiju Utsugisawa, Toshitaka Uchiyama, Takako Aoki, Akemi kinoshita, Yoshio Okamoto, Takahiro Kawakami, Hiromi Ogura, Tsutomu Toki, Toshiyuki Yamamoto, Akira Ohara, Shouichi Ohga, Etsuro Ito, Hitoshi Kanno.
  • Organizer: European Hematology Association
  • Int'l Joint Research
• [Presentation] A case of hereditary spherocytosis with ANK1 mutation and SLC4A1 variant with persistent severe anemia (2019)
  • Author(s): Akira Nishimura, Yuichi Miyakawa, Miki Murakoshi, Asami Shimbo, Rika Ishiguro, Michiko Kajiwara, Atsushi Shibuya, Hiromi Ogura, Hitoshi Kanno, Katsuyoshi Koh, Yoshihiro Minosaki, Masato Nishioka, Masayuki Shimohira
  • Organizer: 第61回小児血液・がん学会学術集会
• [Presentation] 先天性溶血性貧血～新生児期における鑑別診断の重要性 (2019)
  • Author(s): 菅野 仁
  • Organizer: 第125回東京新生児研究会
  • Invited
• [Presentation] 輸血を必要とする疾患の理解と輸血の実際 (2019)
  • Author(s): 菅野 仁
  • Organizer: 第2回関東甲信越ブロック医薬情報担当者研修会
  • Invited
• [Presentation] 先天性溶血性貧血関連遺伝子パネルを用いた新生児溶血性疾患の病因解析 (2019)
  • Author(s): 青木 貴子、小倉 浩美、槍澤 大樹、山本 俊至、中原 衣里菜、谷ケ崎 博、森岡 一朗、菅野 仁
  • Organizer: 第64回日本人類遺伝学会
• [Presentation] 当院の心臓血管外科手術における回収式自己血の実施状況 (2019)
  • Author(s): 及川美幸、中林恭子、岡本好雄、槍澤大樹、小林博人、菅野 仁
  • Organizer: 第67回日本輸血・細胞治療学会学術総会
• [Presentation] 重症心不全に対する再生医療等製品「ハートシート」の院内調整の問題点 (2019)
  • Author(s): 高源ゆみ, 岡田真一, 稲田紹子, 岡本好雄, 小林博人, 菅野 仁
  • Organizer: 第67回日本輸血・細胞治療学会学術総会
• [Presentation] 濾過濃縮後腹水における抗A,抗B抗体価について (2019)
  • Author(s): 岡本好雄, 中林恭子, 及川美幸, 千野峰子, 岡田真一, 木下明美, 守屋友美, 久保田友晶, 松田和樹, 今野マユミ, 槍澤大樹, 小林博人, 菅野 仁
  • Organizer: 第67回日本輸血・細胞治療学会学術総会
• [Presentation] 移植後微小残存病変に対するエロツズマブ併用体外増幅NK細胞輸注療法第一例目の報告 (2019)
  • Author(s): 萩原將太郎, 王艶華, 小林博人, 加藤豊, 飯塚有希, 田中紀奈, 町島智人, 石山みどり, 吉永健太郎, 志関雅幸, 菅野 仁, 田中淳司
  • Organizer: 第44回日本骨髄腫学会学術集会
• [Presentation] パルスオキシメーターにて酸素飽和度異常低値を示した不安定ヘモグロビン症の2例 (2019)
  • Author(s): 豊間優里子, 鶴田敏久, 谷 諭美, 金子裕貴, 花谷あき, 千葉幸英, 中舘尚也, 山城安啓, 服部幸夫, 菅野 仁, 永田 智
  • Organizer: 第122回日本小児科学会学術集会
• [Presentation] 2歳以降に輸血依存性になった赤芽球癆 (2019)
  • Author(s): 金子裕貴, 鶴田敏久, 杉本 圭, 平澤恭子, 菅野 仁, 永田 智
  • Organizer: 第122回日本小児科学会学術集会
• [Presentation] Ex-Vivo Expanded NK Cell Therapy Combined with Elotuzumab for MRD after Autologous Stem Cell Transplantation: A Phase I/ II Clinical Trial in Progress. (2019)
  • Author(s): HAGIWARA Shotaro, WANG Yan-Hua, KOBAYASHI Hirohito, KATO Yutaka, TANAKA Norina, IIZUKA Yuki, WATANABE Aya, ISHIYAMA Midori, SHINOHARA Akihito, KAZAMA Hiroshi, YOSHINAGA Kentaro, SHISEKI Masayuki, KANNO Hitoshi, TANAKA Junji
  • Organizer: 61st ASH Annual Meeting & Expositon
  • Int'l Joint Research
• [Presentation] 当院における血液製剤使用状況の実態に関する解析 (2018)
  • Author(s): 中林 恭子、岡本 好雄、槍澤 大樹、菅野 仁
  • Organizer: 第66回日本輸血・細胞治療学会総会
• [Presentation] 胸水・腹水濾過濃縮静注法における遊離ヘモグロビン検査の重要性 (2018)
  • Author(s): 千野 峰子、小野 慎吾、松田 和樹、久保田 友晶、守谷 友美、及川 美幸、木下 明美、岡田 真一、青木 正弘、中林 恭子、岡本 好雄、今野 マユミ、槍澤 大樹、小林 博人、菅野 仁
  • Organizer: 第66回日本輸血・細胞治療学会総会
• [Presentation] 自己活性化γδ型T細胞を用いたがん免疫療法の臨床研究支援 (2018)
  • Author(s): 高源 ゆみ、稲田 紹子、木下 明美、小林 博人、菅野 仁
  • Organizer: 第66回日本輸血・細胞治療学会総会
• [Presentation] 液製剤使用実態調査で明らかになった血漿分画製剤の使用状況について (2018)
  • Author(s): 菅野 仁
  • Organizer: 第66回日本輸血・細胞治療学会総会
  • Invited
• [Presentation] アンケート調査からみた日本のガンマグロブリン製剤使用実態 (2018)
  • Author(s): 菅野 仁、岡本 好雄
  • Organizer: 第66回日本輸血・細胞治療学会総会
  • Invited
• [Presentation] アンケート調査から見た輸血後感染症検査の実施状況 (2018)
  • Author(s): 菅野 仁、岡本 好雄
  • Organizer: 第66回日本輸血・細胞治療学会総会
  • Invited
• [Presentation] 血液製剤使用実態調査から分かること (2018)
  • Author(s): 菅野 仁
  • Organizer: 第66回日本輸血・細胞治療学会総会
  • Invited
• [Presentation] 新生児に重症黄疸と溶血性貧血を来した一例 (2018)
  • Author(s): 平形絢子、佐藤実紅、春日夏那子、橋本真理、田中健佑、水野隆久、河野美幸、須永康夫、田代雅彦、小倉浩美、菅野 仁
  • Organizer: 日本小児科学会 群馬地方会
• [Presentation] Pyruvate kinase deficiency in Japan: A Summary of clinical feature, laboratory data and enzymatic diagnosis (2018)
  • Author(s): Taiju Utsugisawa, Toshiyuki Yamamoto, Hiromi Ogura, Takako Aoki, Yoshio Okamoto, Takahiro Kawakami, Shouichi Ohga, Akira Ohara, Etsuro Ito, Hitoshi Kanno.
  • Organizer: The European Hematology Association
  • Int'l Joint Research
• [Presentation] 先天性溶血性貧血の秒型診断と治療～最近のトピックス (2018)
  • Author(s): 菅野 仁
  • Organizer: 第4回北陸小児血液研究会
  • Invited
• [Presentation] 先天性溶血性貧血の疫学と病型診断 (2018)
  • Author(s): 菅野 仁
  • Organizer: 第17回 日本新生児黄疸管理研究会
  • Invited
• [Presentation] 健常人とサラセミア、異常ヘモグロビン血症患者から得た赤血球におけるATP増強 (2018)
  • Author(s): 鎌谷 直之、降旗 謙一、谷口 敦夫、福内 友子、山岡 法子、金子 希代子、菅野 仁
  • Organizer: 日本人類遺伝学会第63回大会
• [Presentation] 乳児期の一過性溶血性貧血を呈するinfantile pyknocytosisの臨床像と検査所見 (2018)
  • Author(s): 小倉 浩美、青木 貴子、槍澤 大樹、岡本 好雄、川上 高弘、山本 俊至、大賀 正一、伊藤悦朗、菅野 仁
  • Organizer: 第80回 日本血液学会
• [Presentation] 遺伝子パネルシークエンスにより脱水型遺伝性有口赤血球(DHSt)と診断し得た一例 (2018)
  • Author(s): 青木 貴子、小倉 浩美、槍澤 大樹、山根 孝久、山本 俊至、菅野 仁
  • Organizer: 日本人類遺伝学会第63回大会
• [Presentation] 先天性溶血性貧血診断における網羅的遺伝子検査の有用性 (2018)
  • Author(s): 槍澤 大樹、青木 貴子、小倉 浩美、岡本 好雄、川上 高弘、山根 孝久、山本 俊至、菅野 仁
  • Organizer: 第80回 日本血液学会
• [Presentation] 冷蔵保存腹水によるCARTの安全性と有効性 (2018)
  • Author(s): 岡本 好雄、槍澤 大樹、中林 恭子、千野 峰子、守屋 友美、松田 和樹、小林 博人、菅野 仁
  • Organizer: 第39回日本アフェレシス学会学術大会
• [Presentation] 腹水由来γδ型T細胞を用いた癌免疫細胞療法の開発 (2018)
  • Author(s): 小林 博人、阿部 結貴、槍澤 大樹、菅野 仁
  • Organizer: 第39回日本アフェレシス学会学術大会
  • Invited
• [Presentation] 健常人とサラセミア、異常ヘモグロビン血症患者から得た赤血球におけるイノシンによるATP増強 (2018)
  • Author(s): 鎌谷直之、降旗謙一、谷口敦夫、福内友子、山岡法子、金子希代子 、菅野仁
  • Organizer: 日本痛風・核酸代謝学会
• [Presentation] KCNN4変異による脱水型遺伝性有口赤血球症の1例 (2017)
  • Author(s): 村岡倫子、岡本佳子、猪谷元浩、近藤亜矢、坂根朋子、岩瀬瑞恵、藤原倫昌、北田邦美、野島郁子、高橋伸方、荒木徹
  • Organizer: 第59回小児血液・がん学会学術集会
• [Presentation] 系統的検査による先天性溶血性貧血80症例の病型診断 (2017)
  • Author(s): 小倉浩美、槍澤大樹、岩﨑拓也、青木貴子、岡本好雄、川上高弘、菅野 仁
  • Organizer: 第79回日本血液学会学術集会
• [Presentation] Heterogeneous KCNN4 or PIEZO1 gene mutation cause dehydrated hereditary Stomatocytosis in Japan (2017)
  • Author(s): 槍澤大樹、小倉浩美、岩﨑拓也、青木貴子、岡本好雄、川上高弘、菅野 仁.
  • Organizer: 第79回日本血液学会学術集会
• [Presentation] AG-348,a pyruvate kinase activator,for pyruvate kinase deficiency:Results the drive PK study (2017)
  • Author(s): Hitoshi Kanno、Rachael F.Grace, D.Mark Layton, Frederic Galacteros, D.Holmes Morton, Kevin H.M.Kuo, Sujit Sheth, Janet L.Kwiatkowski, Bruce Silver, Charles Kung, Marvin Cohen, Hua Yang, Penelope A. Kosinski, Lei Hua, Ann J. Barbier, Bertil Glader
  • Organizer: 第79回日本血液学会学術集会
• [Presentation] A patient with hereditary Pyropoikilocytosis caused by a combination of a novel in-frame deletion and a common functional but non-pathogenic allele,αLELY,in SPTA1 (2017)
  • Author(s): Tomoko Goto, Takao Togawa, Tsuyoshi Ito, Masanori Kouwaki, Hiromi Ogura, Hitoshi Kanno, Shinji Saitoh, Norihisa Koyama
  • Organizer: American Society of Human Genetics
  • Int'l Joint Research
• [Presentation] The Flow Cytometric Osmotic Fragility Test is an Effective Screening Test for Red Cell Membrane Disorders, Including Dehydrated Hereditary Stomatocytosis (2017)
  • Author(s): Takuya Iwasaki, Taiju Utsugisawa, Hiromi Ogura, Takako Aoki, Akemi Kinoshita, Yasutaka Ogata, Yoshio Okamoto, Takahiro Kawakami, Hitoshi Kanno
  • Organizer: International Sciety for Laboratory Hematology
  • Int'l Joint Research
• [Presentation] 低温保存腹水を用いた腹水濾過濃縮再静注法(CART)の有用性の検討 (2017)
  • Author(s): 槍澤 大樹、中林 恭子、松田 和樹、守屋 友美、千野 峰子、岡本 好雄、菅野 仁
  • Organizer: 第65回 日本輸血・細胞治療学会総会
• [Presentation] 腹水濾過時に得られる単核球を利用したγδ型T細胞療法の開発 (2017)
  • Author(s): 高源 ゆみ、木下 明美、小林 博人、菅野 仁
  • Organizer: 第65回 日本輸血・細胞治療学会総会
• [Presentation] ABO同型クリオプレシピテート供給体制の是非に関する考察 (2017)
  • Author(s): 小野 慎吾、及川 美幸、中林 恭子、岡本 好雄、菅野 仁
  • Organizer: 第65回 日本輸血・細胞治療学会総会
• [Presentation] 高張アルブミン製剤適正使用の推進 (2017)
  • Author(s): 守屋 友美、小野 慎吾、小林 博人、菅野 仁
  • Organizer: 第65回 日本輸血・細胞治療学会総会
• [Presentation] Generation and Fanctional Analysis of Congenital Dyserythropoietic Anemia(CDA) Patient-Specific Induced Pluripotent Stem Cells (2016)
  • Author(s): Hiroshi Kohara, Hiromi Ogura, Takako Aoki, Chika Sakamoto, Yoshie Ogawa, Shohei Miyamoto, Hitoshi Kanno, Kenzaburo Tani
  • Organizer: American Society of Hematology, 58th Annual Meeting ＆Exposition
  • Place of Presentation: San Diego（America)
  • Year and Date: 2016-12-03
  • Int'l Joint Research
• [Presentation] The Novel missense Mutation of GATA1 Caused red Cell Adenosine Deaminase Overproduction Associated with Congenital Hemolytic Anemia (2016)
  • Author(s): Taiju Utsugisawa, Hiromi Ogura,Toshiyuki Yamamoto,Takako Aoki,Takuya Iwasaki,Yumiko Ondo,Takahiro Kawakami, Shinichiro Nakagawa, Shuichi Ozono, Hiroko Inada, Hitoshi Kanno
  • Organizer: American Society of Hematology, 58th Annual Meeting ＆Exposition
  • Place of Presentation: San Diego（America)
  • Year and Date: 2016-12-03
  • Int'l Joint Research
• [Presentation] Next generation sequencing in diagnosis of congenital hemolytic anemia. (2016)
  • Author(s): Kanno H, Utsugisawa T, Ogura H
  • Organizer: The 5th TSH International Symposium, Red Cell Disorders.: From Bench to Bedside
  • Place of Presentation: Bangkok, Thailand
  • Year and Date: 2016-05-21
  • Int'l Joint Research / Invited
• [Presentation] Congenital hemolytic anemia due to red cell enzymopathies. (2016)
  • Author(s): Kanno H, Utsugisawa T, Ogura H
  • Organizer: The 5th TSH International Symposium, Red Cell Disorders.: From Bench to Bedside
  • Place of Presentation: Bangkok, Thailand
  • Year and Date: 2016-05-20
  • Int'l Joint Research / Invited
• [Presentation] HbA1cが偽性低値を示したエノラーゼ異常症の1例 (2016)
  • Author(s): 井島 廣子, 古賀 正史, 中村 倫子, 松下 文美, 坂本 英美, 岩崎 剛, 松本 理恵, 陣内 冨男, 梶原 敬三, 稗島 州雄, 杉山 正悟, 小倉 浩美, 菅野 仁, 陣内 秀昭
  • Organizer: 第59回日本糖尿病学会年次学術集会
  • Place of Presentation: 国立京都国際会館（京都）
• [Presentation] 先天性溶血性貧血の診断におけるターゲットシークエンシングの有用性 (2016)
  • Author(s): 岩﨑 拓也、山本 俊至、村松 秀城、奥野友介、佐藤 裕子、三井 哲夫、小野田 正志、矢野 未央、小松 博史、坂本 謙一、青木 貴子、岡本 好雄、槍澤 大樹、小倉浩美、小島 勢二、菅野 仁
  • Organizer: 第78回日本血液学会学術集会
  • Place of Presentation: パシフィコ横浜（神奈川県）
• [Book] MedicalPractic 【貧血 実地医家に役立つ知識と診療の進めかた】 セミナー臨床に役立つ知識と情報 溶血性貧血の鑑別診断の進め方 (2016)
  • Author(s): 小倉浩美, 菅野 仁
  • Total Pages: 166
  • Publisher: 文光堂
• [Book] 血液内科 【貧血性疾患診療の進歩】 先天性溶血性貧血の遺伝子診断 (2016)
  • Author(s): 大賀 正一, 山城 安啓, 菅野 仁
  • Total Pages: 273
  • Publisher: 科学評論社
• [Book] 小児内科 【血球の増加と減少】赤血球 貧血 遺伝性貧血 (2016)
  • Author(s): 小倉浩美、菅野 仁
  • Total Pages: 140
  • Publisher: 東京医学社
• [Book] 見過ごせないウイルス感染症ヒトパルボウイルスB19 (2016)
  • Author(s): 大賀 正一,猪股 裕紀洋,菅野 仁,田村 正徳,八重樫 伸生
  • Total Pages: 180
  • Publisher: メディカルレビュー社