Page 16 - Programa Educacional Congres SEHH-SETH 2017

y procedimiento NGS es una técnica de alta e cacia diagnóstica.
❯ Bibliografía
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8. Bolton-Maggs PHB, Langer JC, Iolascon A,Tittensor P, King MJ. Guidelines for the diagnosis and management of hereditary spherocytosis-2011 update. Br J Haematol. 2011;156:27-49.
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10. Mariani M, Barcellini W, Vercellati C, Marcello AP, Fermo E, Pedotti P, et al. Clini- cal and hematologic features of 300 patients affected by hereditary sphe- rocytosis grouped according to the type of the membrane protein defect. Haematologica. 2008;93(9):1310-7.
11. Andolfo I, Alper SL, De Franceschi L, Auriemma C, Russo R, De Falco L, et al. Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1. Blood. 2013;121(19):3925-35.
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13. Del Orbe Barreto R, Arrizabalaga B, De la Hoz Rastrollo AB, García-Orad A, González Vallejo I, Bento C, et al. Hereditary xerocytosis, a misleading ane- mia. Ann Hematol. 2016;95(9): 545-6.
14. Del Orbe Barreto R, Arrizabalaga B, De la Hoz AB, García-Orad A, Tejada MI, García-Ruiz JC, et al. Detection of new pathogenic mutations in patients with congenital haemolytic anaemia using next-generation sequencing. Int J Lab Hematol. 2016;38(6):629-38.
LIX Congreso Nacional SEHH-XXIII Congreso SETH / Programa Educacional
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