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

Research Project

Project/Area Number 16K10041
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Pediatrics
Research InstitutionTokyo 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 *help
¥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。

Report

(5 results)
  • 2019 Annual Research Report   Final Research Report ( PDF )
  • 2018 Research-status Report
  • 2017 Research-status Report
  • 2016 Research-status Report
  • Research Products

    (86 results)

All 2020 2019 2018 2017 2016

All Journal Article (34 results) (of which Int'l Joint Research: 8 results,  Peer Reviewed: 31 results,  Open Access: 19 results,  Acknowledgement Compliant: 3 results) Presentation (48 results) (of which Int'l Joint Research: 11 results,  Invited: 11 results) Book (4 results)

  • [Journal Article] Unexplained Late-Onset Hemolytic Jaundice Preceded by High Fetal Hemoglobin Level in an Extremely Low Birth Weight Infant2020

    • 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

    • Related Report
      2019 Annual Research Report
    • 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

    • Related Report
      2019 Annual Research Report
    • 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

    • Related Report
      2019 Annual Research Report 2018 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Association between SLCO1B1 rs4149056 and tegafur?uracil-induced hepatic dysfunction in breast cancer2019

    • 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

    • Related Report
      2019 Annual Research Report 2018 Research-status Report
    • 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 patients2019

    • 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

    • Related Report
      2019 Annual Research Report
    • 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

    • Related Report
      2019 Annual Research Report
    • 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

    • Related Report
      2018 Research-status Report
  • [Journal Article] EFFICACY OF CELL-FREE AND CONCENTRATED ASCITES FOR AUTOLOGOUS ALBUMIN PRODUCTS2018

    • 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
    • Related Report
      2018 Research-status Report
    • 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
    • Related Report
      2018 Research-status Report
    • 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

    • Related Report
      2018 Research-status Report 2017 Research-status Report
    • Peer Reviewed
  • [Journal Article] De Novo Mutations Activating Germline TP53 in an Inherited Bone-Marrow-Failure Syndrome2018

    • 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

    • Related Report
      2018 Research-status Report
    • 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 deficiency2018

    • 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

    • Related Report
      2018 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Whole-exome analysis to detect congenital hemolytic anemia mimicking congenital dyserythropoietic anemia2018

    • 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

    • Related Report
      2018 Research-status Report
    • 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

    • Related Report
      2018 Research-status Report
    • 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

    • Related Report
      2018 Research-status Report
  • [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

    • Related Report
      2017 Research-status Report
    • Peer Reviewed
  • [Journal Article] SURVEY OF THE STATUS OF INTRAVENOUS IMMUNOGLOBULIN (IVIG) PRODUCTS: TRANSITION IN RECENT YEARS AT TOKYO WOMEN&apos;S MEDICAL UNIVERSITY HOSPITAL2018

    • 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
    • Related Report
      2017 Research-status Report
    • Peer Reviewed
  • [Journal Article] Worldwide study of hematopoietic allogeneic stem cell transplantation in pyruvate kinase deficiency2017

    • 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

    • Related Report
      2018 Research-status Report 2017 Research-status Report
    • 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

    • Related Report
      2017 Research-status Report
    • Peer Reviewed
  • [Journal Article] A novel PGK1 mutation associated with neurological dysfunction and the absence of episodes of hemolytic anemia or myoglobinuria2017

    • 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

    • Related Report
      2017 Research-status Report
    • 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

    • Related Report
      2017 Research-status Report
    • 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

    • Related Report
      2017 Research-status Report
  • [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

    • Related Report
      2017 Research-status Report 2016 Research-status Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Discrimination of Diamond-Blackfan anemia from parvovirus B19 infection by RBC glutathione2017

    • 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

    • Related Report
      2017 Research-status Report
    • 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

    • Related Report
      2017 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Successful long-term management with low-dose prednisolone in an adult patient with Diamond-Blackfan anemia2017

    • 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
    • Related Report
      2017 Research-status Report
    • Peer Reviewed
  • [Journal Article] Splenectomy resolves hemolytic anemia caused by adenylate kinase deficiency2017

    • 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

    • Related Report
      2017 Research-status Report
    • 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

    • Related Report
      2017 Research-status Report 2016 Research-status Report
    • 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 sequencing2017

    • 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

    • Related Report
      2017 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Diagnostic challenge of Diamond-Blackfan anemia in mothers and children by whole-exome sequencing2017

    • 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

    • Related Report
      2016 Research-status Report
    • Peer Reviewed
  • [Journal Article] Erythrocyte glutathione is a novel biomarker of Diamond-Blackfan anemia2016

    • 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

    • Related Report
      2016 Research-status Report
    • 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

    • Related Report
      2016 Research-status Report
    • 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

    • Related Report
      2016 Research-status Report
    • Peer Reviewed
  • [Journal Article] ATP11C is a major flippase in human erythrocytes and its defect causes congenital hemolytic anemia2016

    • 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

    • Related Report
      2016 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Presentation] A Global Longitudinal Observational Study Of Patients With Pyruvate Kinase Deficiency2019

    • 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
    • Related Report
      2019 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Differential Diagnosis Of Congenital Hemolytic Anemia Of Neonates And Infants In Japan2019

    • Author(s)
      Hiromi Ogura, Taiju Utsugisawa, Takako Aoki, Akemi Kinoshita, Yoshio Okamoto, Takahiro Kawasaki, Toshiyuki Yamamoto, Hitoshi Kanno
    • Organizer
      European Hematology Association
    • Related Report
      2019 Annual Research Report
    • 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
    • Related Report
      2019 Annual Research Report
    • Int'l Joint Research
  • [Presentation] A case of hereditary spherocytosis with ANK1 mutation and SLC4A1 variant with persistent severe anemia2019

    • 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
    • Related Report
      2019 Annual Research Report
  • [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
    • Related Report
      2019 Annual Research Report
    • 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
    • Related Report
      2019 Annual Research Report
    • 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
    • Related Report
      2019 Annual Research Report
  • [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
    • Related Report
      2019 Annual Research Report
  • [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
    • Related Report
      2019 Annual Research Report
  • [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
    • Related Report
      2019 Annual Research Report
  • [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
    • Related Report
      2019 Annual Research Report
  • [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
    • Related Report
      2019 Annual Research Report
  • [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
    • Related Report
      2019 Annual Research Report
  • [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
    • Related Report
      2019 Annual Research Report
    • 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
    • Related Report
      2018 Research-status Report
  • [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
    • Related Report
      2018 Research-status Report
  • [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
    • Related Report
      2018 Research-status Report
  • [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
    • Related Report
      2018 Research-status Report
    • 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
    • Related Report
      2018 Research-status Report
    • 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
    • Related Report
      2018 Research-status Report
    • 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
    • Related Report
      2018 Research-status Report
    • 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
    • Related Report
      2018 Research-status Report
  • [Presentation] Pyruvate kinase deficiency in Japan: A Summary of clinical feature, laboratory data and enzymatic diagnosis2018

    • 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
    • Related Report
      2018 Research-status Report
    • 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
    • Related Report
      2018 Research-status Report
    • 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
    • Related Report
      2018 Research-status Report
    • 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
    • Related Report
      2018 Research-status Report
  • [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
    • Related Report
      2018 Research-status Report
  • [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
    • Related Report
      2018 Research-status Report
  • [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
    • Related Report
      2018 Research-status Report
  • [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
    • Related Report
      2018 Research-status Report
  • [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
    • Related Report
      2018 Research-status Report
    • 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
    • Related Report
      2018 Research-status Report
  • [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
    • Related Report
      2017 Research-status Report
  • [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
    • Related Report
      2017 Research-status Report
  • [Presentation] Heterogeneous KCNN4 or PIEZO1 gene mutation cause dehydrated hereditary Stomatocytosis in Japan2017

    • 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
    • Related Report
      2017 Research-status Report
  • [Presentation] AG-348,a pyruvate kinase activator,for pyruvate kinase deficiency:Results the drive PK study2017

    • 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
    • Related Report
      2017 Research-status Report
  • [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 SPTA12017

    • Author(s)
      Tomoko Goto, Takao Togawa, Tsuyoshi Ito, Masanori Kouwaki, Hiromi Ogura, Hitoshi Kanno, Shinji Saitoh, Norihisa Koyama
    • Organizer
      American Society of Human Genetics
    • Related Report
      2017 Research-status Report
    • Int'l Joint Research
  • [Presentation] The Flow Cytometric Osmotic Fragility Test is an Effective Screening Test for Red Cell Membrane Disorders, Including Dehydrated Hereditary Stomatocytosis2017

    • 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
    • Related Report
      2017 Research-status Report
    • 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
    • Related Report
      2017 Research-status Report
  • [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
    • Related Report
      2017 Research-status Report
  • [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
    • Related Report
      2017 Research-status Report
  • [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
    • Related Report
      2017 Research-status Report
  • [Presentation] Generation and Fanctional Analysis of Congenital Dyserythropoietic Anemia(CDA) Patient-Specific Induced Pluripotent Stem Cells2016

    • 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
    • Related Report
      2016 Research-status Report
    • Int'l Joint Research
  • [Presentation] The Novel missense Mutation of GATA1 Caused red Cell Adenosine Deaminase Overproduction Associated with Congenital Hemolytic Anemia2016

    • 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
    • Related Report
      2016 Research-status Report
    • 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
    • Related Report
      2016 Research-status Report
    • 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
    • Related Report
      2016 Research-status Report
    • 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)
    • Related Report
      2016 Research-status Report
  • [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)
    • Related Report
      2016 Research-status Report
  • [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
    • Related Report
      2016 Research-status Report
  • [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
    • Related Report
      2016 Research-status Report
  • [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
    • Related Report
      2016 Research-status Report
  • [Book] 見過ごせないウイルス感染症ヒトパルボウイルスB192016

    • 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
    • Related Report
      2016 Research-status Report

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Published: 2016-04-21   Modified: 2021-02-19  

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