Page 72 - 2019_08-Haematologica-web
P. 72

V. Picard et al.
sis: relevance to diagnosis and understanding
of the variable expression of clinical severity.
J Lab Clin Med. 1996;128(3):259–269.
21. Llaudet-Planas E, Vives-Corrons JL, Rizzuto V, et al. Osmotic gradient ektacytometry: a valuable screening test for hereditary sphe- rocytosis and other red blood cell membrane disorders. Int J Lab Hematol. 2018;40(1):94–
102.
22. Lazarova E, Gulbis B, Oirschot B van, van
Wijk R. Next-generation osmotic gradient ektacytometry for the diagnosis of heredi- tary spherocytosis: interlaboratory method validation and experience. Clin Chem Lab Med. 2017;55(3):394-402.
23. Fotiou E, Martin-Almedina S, Simpson MA, et al. Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis. Nat Commun. 2015;6:8085.
24. Jaïs X, Till SJ, Cynober T, et al. An extreme consequence of splenectomy in dehydrated hereditary stomatocytosis: gradual throm- bo-embolic pulmonary hypertension and lung-heart transplantation. Hemoglobin. 2003;27(3):139–147.
25. Kaufman HW, Niles JK, Gallagher DR, et al. Revised prevalence estimate of possible hereditary xerocytosis as derived from a large U.S. laboratory database. Am J Hematol. 2018;93(1):E9–E12.
26. Rapetti-Mauss R, Soriani O, Vinti H, Badens C, Guizouarn H. Senicapoc: a potent candi- date for the treatment of a subset of heredi- tary xerocytosis caused by mutations in the Gardos channel. Haematologica. 2016;101 (11):e431–e435.
27. Rotordam MG, Fermo E, Becker N, et al. A
novel gain-of-function mutation of Piezo1 is functionally affirmed in red blood cells by high-throughput patch clamp. Haematologica. 2019;104(5):e179-e183.
28. Barcellini W, Fattizzo B. Clinical applications of hemolytic markers in the differential diag- nosis and management of hemolytic ane- mia. Dis Markers. 2015;2015:635670.
29. Mariani M, Barcellini W, Vercellati C, et al. Clinical and hematologic features of 300 patients affected by hereditary spherocyto- sis grouped according to the type of the membrane protein defect. Haematologica. 2008;93(9):1310–1317.
30. Fermo E, Bogdanova A, Petkova-Kirova P, et al. “Gardos Channelopathy”: a variant of hereditary Stomatocytosis with complex molecular regulation. Sci Rep. 2017;7(1): 1744.
31. Perel Y, Dhermy D, Carrere A, et al. Portal vein thrombosis after splenectomy for hereditary stomatocytosis in childhood. Eur J Pediatr. 1999;158(8):628–630.
32. Bergheim J, Ernst P, Brinch L, Gore DM, Chetty MC, Stewart GW. Allogeneic bone marrow transplantation for severe post- splenectomy thrombophilic state in leaky red cell membrane haemolytic anaemia of the stomatocytosis class. Br J Haematol. 2003;121(1):119–122.
33. Murali B, Drain A, Seller D, Dunning J, Vuylsteke A. Pulmonary thromboen- darterectomy in a case of hereditary stoma- tocytosis. Br J Anaesth. 2003;91(5):739–741.
34. Carli P, Graffin B, Gisserot O, Landais C, De Jaureguiberry J-P. [Recurrence of throm- boembolic disease after splenectomy for hereditary xerocytosis]. Rev Med Interne.
2007;28(12):879–881.
35. Gallagher PG, Chang SH, Rettig MP, et al.
Altered erythrocyte endothelial adherence and membrane phospholipid asymmetry in hereditary hydrocytosis. Blood. 2003;101 (11):4625–4627.
36. Smith BD, Segel GB. Abnormal erythrocyte endothelial adherence in hereditary stoma- tocytosis. Blood. 1997;89(9):3451–3456.
37. Cappellini MD, Grespi E, Cassinerio E, Bignamini D, Fiorelli G. Coagulation and splenectomy: an overview. Ann N Y Acad Sci. 2005;1054:317–324.
38. Li J, Hou B, Tumova S, et al. PIEZO1 integra- tion of vascular architecture with physiolog- ical force. Nature. 2014;515(7526):279–282.
39. Wang S, Chennupati R, Kaur H, Iring A, Wettschureck N, Offermanns S. Endothelial cation channel PIEZO1 controls blood pres- sure by mediating flow-induced ATP release. J Clin Invest. 2016;126(12):4527–4536.
40. Iolascon A, Andolfo I, Barcellini W, et al. Recommendations regarding splenectomy in hereditary hemolytic anemias. Haematologica 2017;102(8):1304–1313.
41. Entezami M, Becker R, Menssen HD, Marcinkowski M, Versmold HT. Xerocytosis with concomitant intrauterine ascites: first description and therapeutic approach. Blood. 1996;87(12):5392–5393.
42. Ami O, Picone O, Garçon L, et al. First- trimester nuchal abnormalities secondary to dehydrated hereditary stomatocytosis. Prenat Diagn. 2009;29(11):1071–1074.
43. Lukacs V, Mathur J, Mao R, et al. Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia. Nat Commun. 2015;6:8329.
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