Page 285 - Haematologica Vol. 107 - September 2022

CASE REPORT
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4. Iolascon A, Andolfo I, Barcellini W, et al. Recommendations
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6. Zarychanski R, Schulz VP, Houston BL, et al. Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis. Blood. 2012;120(9):1908-1915.
7. Andolfo I, Rosato BE, Manna F, et al. Gain-of-function mutations in PIEZO1 directly impair hepatic iron metabolism via the inhibition of the BMP/SMADs pathway. Am J Hematol. 2020;95(2):188-197.
8. Ma S, Dubin AE, Zhang Y, et al. A role of PIEZO1 in iron metabolism in mice and humans. Cell. 2021;184(4):969-982 e13.
9. Andolfo I, Alper SL, Delaunay J, et al. Missense mutations in
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12. Russo R, Marra R, Rosato BE, Iolascon A, Andolfo I. Genetics and genomics approaches for diagnosis and research into hereditary anemias. Front Physiol. 2020;11:613559.
13. Gnanasambandam R, Rivera A, Vandorpe DH, et al. Increased red cell KCNN4 activity in sporadic hereditary xerocytosis associated with enhanced single channel pressure sensitivity of PIEZO1 mutant V598M. Hemasphere. 2018;2(5):e55.
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15. Andolfo I, Martone S, Rosato BE, et al. Complex modes of inheritance in hereditary red blood cell disorders: a case series study of 155 patients. Genes (Basel). 2021;12(7):958.
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