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Fermo E, Vercellati C, Marcello AP, et al. Hereditary Xerocytosis due to Mutations in . Case Rep Hematol. 2017;2017:2769570doi: 10.1155/2017/2769570.
Fermo, E., Vercellati, C., Marcello, A. P., Zaninoni, A., van Wijk, R., Mirra, N., Curcio, C., Cortelezzi, A., Zanella, A., Barcellini, W., & Bianchi, P. (2017). Hereditary Xerocytosis due to Mutations in . Case reports in hematology, 20172769570. https://doi.org/10.1155/2017/2769570
Fermo, Elisa, et al. "Hereditary Xerocytosis due to Mutations in ." Case reports in hematology vol. 2017 (2017): 2769570. doi: https://doi.org/10.1155/2017/2769570
Fermo E, Vercellati C, Marcello AP, Zaninoni A, van Wijk R, Mirra N, Curcio C, Cortelezzi A, Zanella A, Barcellini W, Bianchi P. Hereditary Xerocytosis due to Mutations in . Case Rep Hematol. 2017;2017:2769570. doi: 10.1155/2017/2769570. Epub 2017 Mar 06. PMID: 28367341; PMCID: PMC5358460.
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Case Rep Hematol. 2017;2017:2769570. doi: 10.1155/2017/2769570. Epub 2017 Mar 06.

Hereditary Xerocytosis due to Mutations in .

Case reports in hematology

Elisa Fermo, Cristina Vercellati, Anna Paola Marcello, Anna Zaninoni, Richard van Wijk, Nadia Mirra, Cristina Curcio, Agostino Cortelezzi, Alberto Zanella, Wilma Barcellini, Paola Bianchi

Affiliations

  1. U.O.C. Oncoematologia, U.O.S. Fisiopatologia delle Anemie, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy.
  2. Department of Clinical Chemistry and Haematology, University Medical Center Utrecht, Utrecht, Netherlands.
  3. U.O.C. Pronto Soccorso, Pediatria Ambulatoriale e DH/MAC, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy.
  4. U.O.S.D. Genetica Medica, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy.
  5. U.O.C. Oncoematologia, U.O.S. Fisiopatologia delle Anemie, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy; Universita degli Studi di Milano, Milano, Italy.

PMID: 28367341 PMCID: PMC5358460 DOI: 10.1155/2017/2769570

Abstract

Hereditary xerocytosis (HX) is a rare disorder caused by defects of RBC permeability, associated with haemolytic anaemia of variable degree and iron overload. It is sometimes misdiagnosed as hereditary spherocytosis or other congenital haemolytic anaemia. Splenectomy is contraindicated due to increased risk of thromboembolic complications. We report the clinical, haematological, and molecular characteristics of four patients from two unrelated Italian families affected by HX, associated with beta-thalassemia trait and heterozygous pyruvate kinase deficiency, respectively. Two patients had been splenectomised and displayed thrombotic episodes. All patients had iron overload in the absence of transfusion, two of them requiring iron chelation. The diagnosis of HX was confirmed by LoRRca Osmoscan analysis showing a left-shifted curve.

Conflict of interest statement

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

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