Table of Contents Author Guidelines Submit a Manuscript
Case Reports in Hematology
Volume 2017 (2017), Article ID 2769570, 8 pages
https://doi.org/10.1155/2017/2769570
Case Report

Hereditary Xerocytosis due to Mutations in PIEZO1 Gene Associated with Heterozygous Pyruvate Kinase Deficiency and Beta-Thalassemia Trait in Two Unrelated Families

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

Correspondence should be addressed to Elisa Fermo

Received 14 October 2016; Accepted 15 February 2017; Published 6 March 2017

Academic Editor: Ramon Tiu

Copyright © 2017 Elisa Fermo et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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. PIEZO1 gene sequencing revealed the presence of mutation p.E2496ELE, showing that this is one of the most frequent mutations in this disease. The concomitant defects did not aggravate the clinical phenotype; however, in one patient, the initial diagnosis of pyruvate kinase deficiency delayed the correct diagnosis of HX for many years and resulted in splenectomy followed by thrombotic complications. The study underlines the importance of a precise diagnosis in HX, particularly in view of splenectomy, and the need of a molecular confirmation of suspected RBC enzymopathy.