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International Journal of Hematology

, Volume 104, Issue 1, pp 125–129 | Cite as

PIEZO1 gene mutation in a Japanese family with hereditary high phosphatidylcholine hemolytic anemia and hemochromatosis-induced diabetes mellitus

  • Shinsaku Imashuku
  • Hideki Muramatsu
  • Takashi Sugihara
  • Yusuke Okuno
  • Xinan Wang
  • Kenichi Yoshida
  • Ayako Kato
  • Koichi Kato
  • Yasuaki Tatsumi
  • Ai Hattori
  • Shinya Kita
  • Keishi Oe
  • Atsushi Sueyoshi
  • Takeshi Usui
  • Yuichi Shiraishi
  • Kenichi Chiba
  • Hiroko Tanaka
  • Satoru Miyano
  • Seishi Ogawa
  • Seiji Kojima
  • Hitoshi Kanno
Case Report

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.

Keywords

Macrocytic hemolytic anemia Stomatocytosis Hemochromatosis Hereditary high phosphatidylcholine hemolytic anemia PIEZO1 gene mutation 

Notes

Acknowledgments

The authors thank all of the family members for their support in our study. The authors also would like to thank Ms. Yoshie Miura, Ms. Yuko Imanishi, and Ms. Hiroe Namizaki for their valuable assistance. The authors acknowledge the Division for Medical Research Engineering, Nagoya University Graduate School of Medicine for technical support of cell sorting and next-generation sequencing.

Compliance with ethical standards

Conflict of interest

The authors declare that there is no conflict of interests regarding the publication of this paper.

Funding

This work was supported by “Research on Measures for Intractable Diseases” Project from Ministry of Health Labour and Welfare, Grant-in-Aids from the Ministry of Health, Labor and Welfare of Japan (H23-TA012).

Supplementary material

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Copyright information

© The Japanese Society of Hematology 2016

Authors and Affiliations

  • Shinsaku Imashuku
    • 1
  • Hideki Muramatsu
    • 2
  • Takashi Sugihara
    • 3
  • Yusuke Okuno
    • 2
    • 4
  • Xinan Wang
    • 2
  • Kenichi Yoshida
    • 5
  • Ayako Kato
    • 6
  • Koichi Kato
    • 6
  • Yasuaki Tatsumi
    • 6
  • Ai Hattori
    • 7
  • Shinya Kita
    • 1
  • Keishi Oe
    • 1
  • Atsushi Sueyoshi
    • 1
  • Takeshi Usui
    • 8
  • Yuichi Shiraishi
    • 9
  • Kenichi Chiba
    • 9
  • Hiroko Tanaka
    • 10
  • Satoru Miyano
    • 9
    • 10
    • 11
  • Seishi Ogawa
    • 5
  • Seiji Kojima
    • 2
  • Hitoshi Kanno
    • 12
  1. 1.Divisions of Laboratory Medicine or Internal Medicine, Uji-Tokushukai Medical CenterUji-Tokushukai Medical CenterUjiJapan
  2. 2.Department of PediatricsNagoya University Graduate School of MedicineNagoyaJapan
  3. 3.Department of HematologyKawasaki Medical SchoolKurashikiJapan
  4. 4.Center for Advanced Medicine and Clinical ResearchNagoya University HospitalNagoyaJapan
  5. 5.Department of Pathology and Tumor Biology, Graduate School of MedicineKyoto UniversityKyotoJapan
  6. 6.Laboratory of MedicineAichi Gakuin University School of PharmacyNagoyaJapan
  7. 7.Department of Hospital PharmacyNagoya UniversityNagoyaJapan
  8. 8.Clinical Research InstituteNational Hospital Organization Kyoto Medical CenterKyotoJapan
  9. 9.Laboratory of DNA Information AnalysisHuman Genome Center, Institute of Medical Science, The University of TokyoTokyoJapan
  10. 10.Laboratory of Sequence Analysis, Human Genome Center, Institute of Medical ScienceThe University of TokyoTokyoJapan
  11. 11.Health Intelligence Center, Institute of Medical ScienceThe University of TokyoTokyoJapan
  12. 12.Department of Transfusion Medicine and Cell ProcessingTokyo Women’s Medical UniversityTokyoJapan

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