脱水型遺伝性有口赤血球症 (DHS) [DS:H01978]
Overhydrated hereditary stomatocytosis (OHST) [DS:H01979]
家族性偽高カリウム血症 (PSHK) [DS:H02001]
Cryohydrocytosis (CHC) [DS:H02002]
神経障害を伴うストマチン欠損 CHC (SDCHCN)

Bruce LJ

Hereditary stomatocytosis and cation leaky red cells--recent developments.

Blood Cells Mol Dis 42:216-22 (2009)
DOI:10.1016/j.bcmd.2009.01.014

Delaunay J

The hereditary stomatocytoses: genetic disorders of the red cell membrane permeability to monovalent cations.

Semin Hematol 41:165-72 (2004)
DOI:10.1053/j.seminhematol.2004.02.005

Delaunay J, Stewart G, Iolascon A

Hereditary dehydrated and overhydrated stomatocytosis: recent advances.

Curr Opin Hematol 6:110-4 (1999)
DOI:10.1097/00062752-199903000-00009

Andolfo I, Russo R, Gambale A, Iolascon A

New insights on hereditary erythrocyte membrane defects.

Haematologica 101:1284-1294 (2016)
DOI:10.3324/haematol.2016.142463

Bruce LJ, Guizouarn H, Burton NM, Gabillat N, Poole J, Flatt JF, Brady RL, Borgese F, Delaunay J, Stewart GW

The monovalent cation leak in overhydrated stomatocytic red blood cells results from amino acid substitutions in the Rh-associated glycoprotein.

Blood 113:1350-7 (2009)
DOI:10.1182/blood-2008-07-171140

Zarychanski R, Schulz VP, Houston BL, Maksimova Y, Houston DS, Smith B, Rinehart J, Gallagher PG

Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis.

Blood 120:1908-15 (2012)
DOI:10.1182/blood-2012-04-422253

Rapetti-Mauss R, Lacoste C, Picard V, Guitton C, Lombard E, Loosveld M, Nivaggioni V, Dasilva N, Salgado D, Desvignes JP, Beroud C, Viout P, Bernard M, Soriani O, Vinti H, Lacroze V, Feneant-Thibault M, Thuret I, Guizouarn H, Badens C

A mutation in the Gardos channel is associated with hereditary xerocytosis.

Blood 126:1273-80 (2015)
DOI:10.1182/blood-2015-04-642496

Andolfo I, Alper SL, Delaunay J, Auriemma C, Russo R, Asci R, Esposito MR, Sharma AK, Shmukler BE, Brugnara C, De Franceschi L, Iolascon A

Missense mutations in the ABCB6 transporter cause dominant familial pseudohyperkalemia.

Am J Hematol 88:66-72 (2013)
DOI:10.1002/ajh.23357

Bruce LJ, Robinson HC, Guizouarn H, Borgese F, Harrison P, King MJ, Goede JS, Coles SE, Gore DM, Lutz HU, Ficarella R, Layton DM, Iolascon A, Ellory JC, Stewart GW

Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1.

Nat Genet 37:1258-63 (2005)
DOI:10.1038/ng1656

Flatt JF, Guizouarn H, Burton NM, Borgese F, Tomlinson RJ, Forsyth RJ, Baldwin SA, Levinson BE, Quittet P, Aguilar-Martinez P, Delaunay J, Stewart GW, Bruce LJ

Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome.

Blood 118:5267-77 (2011)
DOI:10.1182/blood-2010-12-326645