Skip to main content

Advertisement

Log in

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

International Journal of Hematology Aims and scope Submit manuscript

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.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1

Similar content being viewed by others

References

  1. Jaffe ER, Gottfried EL. Hereditary nonspherocytic hemolytic disease associated with an altered phospholipid composition of the erythrocytes. J Clin lnvest. 1968;47:1375–88.

    Article  CAS  Google Scholar 

  2. Inoue J, Nomura M, Akagi E, Yawata Y. The Japanese family of congenital high red cell membrane phosphatidylcholine hemolytic anemia. Rinsho Ketsueki. 1989;30(11):2014–19 (article in Japanese).

    CAS  PubMed  Google Scholar 

  3. Yawata Y. Characteristics of red cell membrane disorders in the Japanese population. Rinsho Byori. 1997;45(4):367–76 (article in Japanese).

    CAS  PubMed  Google Scholar 

  4. Archer NM, Shmukler BE, Andolfo I, et al. Hereditary xerocytosis revisited. Am J Hematol. 2014;89(12):1142–6.

    Article  PubMed  PubMed Central  Google Scholar 

  5. Clark MR, Shohet SB, Gottfried EL. Hereditary hemolytic disease with increased red blood cell phosphatidylcholine and dehydration: one, two, or many disorders? Am J Hematol. 1993;42(1):25–30.

    Article  CAS  PubMed  Google Scholar 

  6. Zarychanski R, Schulz VP, Houston BL, et al. Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis. Blood. 2012;120(9):1908–15.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  7. Andolfo I, Alper SL, De Franceschi L, et al. Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1. Blood. 2013;121(19):3925–35.

    Article  CAS  PubMed  Google Scholar 

  8. Albuisson J, Murthy SE, Bandell M, et al. Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels. Nat Commun. 2013;4:1884.

    PubMed  PubMed Central  Google Scholar 

  9. Syfuss PY, Ciupea A, Brahimi S, et al. Mild dehydrated hereditary stomatocytosis revealed by marked hepatosiderosis. Clin Lab Haematol. 2006;28(4):270–4.

    Article  PubMed  Google Scholar 

  10. Assis RA, Kassab C, Seguro FS, et al. Iron overload in a teenager with xerocytosis: the importance of nuclear magnetic resonance imaging. Einstein (Sao Paulo). 2013;11:528–32.

    Article  Google Scholar 

  11. Longo F, Zecchina G, Sbaiz L, et al. The influence of hemochromatosis mutations on iron overload of thalassemia major. Haematologica. 1999;84(9):799–803.

    CAS  PubMed  Google Scholar 

  12. Martins R, Picanço I, Fonseca A, et al. The role of HFE mutations on iron metabolism in beta-thalassemia carriers. J Hum Genet. 2004;49(12):651–5.

    Article  CAS  PubMed  Google Scholar 

  13. Basu AP, Carey P, Cynober T, et al. Dehydrated hereditary stomatocytosis with transient perinatal ascites. Arch Dis Child Fetal Neonatal Ed. 2003;88(5):F438–9.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  14. Heimpel H, Dührsen U, Hofbauer P, et al. Bulky extramedullary hematopoiesis is not a rare complication of congenital dyserythropoietic anemia. Ann Hematol. 2009;88(10):937–41.

    Article  PubMed  Google Scholar 

  15. Hattori A, Miyajima H, Tomosugi N, et al. Clinicopathological study of Japanese patients with genetic iron overload syndromes. Pathol Int. 2012;62(9):612–8.

    Article  CAS  PubMed  Google Scholar 

  16. Demolombe S, Duprat F, Honoré E, Patel A. Slower Piezo1 inactivation in dehydrated hereditary stomatocytosis (xerocytosis). Biophys J. 2013;105(4):833–4.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  17. Stewart GW, Amess JA, Eber SW, et al. Thrombo-embolic disease after splenectomy for hereditary stomatocytosis. Br J Haematol. 1996;93(2):303–10.

    Article  CAS  PubMed  Google Scholar 

  18. Rapetti-Mauss R, Lacoste C, Picard V, et al. A mutation in the Gardos channel is associated with hereditary xerocytosis. Blood. 2015;126(11):1273–80.

    Article  CAS  PubMed  Google Scholar 

  19. Glogowska E, Lezon-Geyda K, Maksimova Y, et al. Mutations in the Gardos channel (KCNN4) are associated with hereditary xerocytosis. Blood. 2015;126(11):1281–4.

    Article  CAS  PubMed  Google Scholar 

Download references

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.

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Shinsaku Imashuku.

Ethics declarations

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).

Additional information

S. Imashuku and H. Muramatsu contributed equally to this work.

Electronic supplementary material

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Imashuku, S., Muramatsu, H., Sugihara, T. et al. PIEZO1 gene mutation in a Japanese family with hereditary high phosphatidylcholine hemolytic anemia and hemochromatosis-induced diabetes mellitus. Int J Hematol 104, 125–129 (2016). https://doi.org/10.1007/s12185-016-1970-x

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s12185-016-1970-x

Keywords

Navigation