@article{Véronique Picard_Corinne Guitton_Isabelle Thuret_Christian Rose_Laurence Bendelac_Kaldoun Ghazal_Patricia Aguilar-Martinez_Catherine Badens_Claire Barro_Claire Bénéteau_Claire Berger_Pascal Cathébras_Eric Deconinck_Jacques Delaunay_Jean-Marc Durand_Nadia Firah_Frédéric Galactéros_Bertrand Godeau_Xavier Jaïs_Jean-Pierre de Jaureguiberry_Camille Le Stradic_François Lifermann_Robert Maffre_Gilles Morin_Julien Perrin_Valérie Proulle_Marc Ruivard_Fabienne Toutain_Agnès Lahary_Loïc Garçon_2019, place={Pavia, Italy}, title={Clinical and biological features in PIEZO1-hereditary xerocytosis and Gardos channelopathy: a retrospective series of 126 patients}, volume={104}, url={https://haematologica.org/article/view/9003}, DOI={10.3324/haematol.2018.205328}, abstractNote={We describe the clinical, hematologic and genetic characteristics of a retrospective series of 126 subjects from 64 families with hereditary xerocytosis. Twelve patients from six families carried a <em>KCNN4</em> mutation, five had the recurrent p.Arg352His mutation and one had a new deletion at the exon 7-intron 7 junction. Forty-nine families carried a <em>PIEZO1</em> mutation, which was a known recurrent mutation in only one-third of the cases and private sequence variation in others; 12 new probably pathogenic missense mutations were identified. The two dominant features leading to diagnosis were hemolysis that persisted after splenectomy and hyperferritinemia, with an inconstant correlation with liver iron content assessed by magnetic resonance imaging. <em>PIEZO1</em>-hereditary xerocytosis was characterized by compensated hemolysis in most cases, perinatal edema of heterogeneous severity in more than 20% of families and a major risk of post-splenectomy thrombotic events, including a high frequency of portal thrombosis. In <em>KCNN4</em>-related disease, the main symptoms were more severe anemia, hemolysis and iron overload, with no clear sign of red cell dehydration; therefore, this disorder would be better described as a ‘Gardos channelopathy’. These data on the largest series to date indicate that <em>PIEZO1</em>-hereditary xerocytosis and Gardos channelopathy are not the same disease although they share hemolysis, a high rate of iron overload and inefficient splenectomy. They demonstrate the high variability in clinical expression as well as genetic bases of <em>PIEZO1</em&gt;-hereditary xerocytosis. These results will help to improve the diagnosis of hereditary xerocytosis and to provide recommendations on the clinical management in terms of splenectomy, iron overload and pregnancy follow-up.}, number={8}, journal={Haematologica}, author={Véronique Picard and Corinne Guitton and Isabelle Thuret and Christian Rose and Laurence Bendelac and Kaldoun Ghazal and Patricia Aguilar-Martinez and Catherine Badens and Claire Barro and Claire Bénéteau and Claire Berger and Pascal Cathébras and Eric Deconinck and Jacques Delaunay and Jean-Marc Durand and Nadia Firah and Frédéric Galactéros and Bertrand Godeau and Xavier Jaïs and Jean-Pierre de Jaureguiberry and Camille Le Stradic and François Lifermann and Robert Maffre and Gilles Morin and Julien Perrin and Valérie Proulle and Marc Ruivard and Fabienne Toutain and Agnès Lahary and Loïc Garçon}, year={2019}, month={Jul.}, pages={1554-1564} }