Skip to main content

Advertisement

Log in

Paroxysmal nocturnal haemoglobinuria associated with a novel phosphatidylinositol glycan class A (PIGA) mutation in a patient with Klinefelter syndrome

  • Letter to the Editor
  • Published:
Annals of Hematology Aims and scope Submit manuscript

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.

Fig. 1

References

  1. Hillmen P, Hall C, Marsh JC, Elebute M, Bombara MP, Petro BE, Cullen MJ, Richards SJ, Rollins SA, Mojcik CF, Rother RP (2004) Effect of eculizumab on hemolysis and transfusion requirements in patients with paroxysmal nocturnal hemoglobinuria. N Engl J Med 350:552–559. https://doi.org/10.1056/NEJMoa031688

    Article  CAS  PubMed  Google Scholar 

  2. Mahoney JF, Urakaze M, Hall S, DeGasperi R, Chang HM, Sugiyama E, Warren CD, Borowitz M, Nicholson-Weller A, Rosse WF (1992) Defective glycosylphosphatidylinositol anchor synthesis in paroxysmal nocturnal hemoglobinuria granulocytes. Blood 79:1400–1403

    Article  CAS  Google Scholar 

  3. Bessler M, Mason PJ, Hillmen P, Miyata T, Yamada N, Takeda J, Luzzatto L, Kinoshita T (1994) Paroxysmal nocturnal haemoglobinuria (PNH) is caused by somatic mutations in the PIG-A gene. EMBO J 13:110–117. https://doi.org/10.1002/j.1460-2075.1994.tb06240.x

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  4. Nakakuma H, Kawaguchi T (1996) Paroxysmal nocturnal hemoglobinuria (PNH): mechanism of intravascular hemolysis. Crit Rev Oncol Hematol 24:213–229. https://doi.org/10.1016/1040-8428(96)00221-1

    Article  CAS  PubMed  Google Scholar 

  5. Preis M, Lowrey CH (2014) Laboratory tests for paroxysmal nocturnal hemoglobinuria. Am J Hematol 89:339–341. https://doi.org/10.1002/ajh.23612]

    Article  CAS  PubMed  Google Scholar 

  6. Tarailo-Graovac M, Sinclair G, Stockler-Ipsiroglu S, Van Allen M, Rozmus J, Shyr C, Biancheri R, Oh T, Sayson B, Lafek M, Ross CJ (2015) The genotypic and phenotypic spectrum of PIGA deficiency. Orphanet J Rare Dis 10:23. https://doi.org/10.1186/s13023-015-0243-8

    Article  PubMed  PubMed Central  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Contributions

Y.T. and A.H. designed the study. S.I. performed the research. Y.T. provided the clinical data. Y.T. and A.H. wrote the paper. A.H. provided oversight and helpful advice for the study. All authors approved the final version of the manuscript.

Corresponding author

Correspondence to Yotaro Tamai.

Ethics declarations

Conflict of interests

The authors declare that they have no conflict of interests.

Informed consent

Patient provided informed consent for publishing.

Ethics approval

All procedures followed were in accordance with ethical standards and with the Helsinki Declaration of 1975, as revised in 2008.

Additional information

Publisher’s note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Tamai, Y., Ito, S. & Hasegawa, A. Paroxysmal nocturnal haemoglobinuria associated with a novel phosphatidylinositol glycan class A (PIGA) mutation in a patient with Klinefelter syndrome. Ann Hematol 100, 1625–1627 (2021). https://doi.org/10.1007/s00277-020-04377-9

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00277-020-04377-9

Navigation