Hereditary stomatocytosis

Definition:

Hereditary stomatocytosis (HSt) describes a group of hemolytic anemias with mouth-shaped red blood cells which fail to transport monovalent cations, such as sodium and potassium.

References:

[1]. Immacolata Andolfo, et al. Missense mutations in the ABCB6 transporter cause dominant familial pseudohyperkalemia. Am J Hematol. 2013 Jan;88(1):66-72. [Content Brief]

[2]. Immacolata Andolfo, et al. New insights on hereditary erythrocyte membrane defects. Haematologica. 2016 Nov;101(11):1284-1294. [Content Brief]

[3]. J Delaunay, et al. Hereditary dehydrated and overhydrated stomatocytosis: recent advances. Curr Opin Hematol. 1999 Mar;6(2):110-4. [Content Brief]

[4]. Jean Delaunay, et al. The hereditary stomatocytoses: genetic disorders of the red cell membrane permeability to monovalent cations. Semin Hematol. 2004 Apr;41(2):165-72. [Content Brief]

[5]. Joanna F Flatt, et al. Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome. Blood. 2011 Nov 10;118(19):5267-77. [Content Brief]

[6]. Lesley J Bruce, et al. Hereditary stomatocytosis and cation-leaky red cells--recent developments. Blood Cells Mol Dis. 2009 May-Jun;42(3):216-22. [Content Brief]

[7]. Lesley J Bruce, et al. 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. 2005 Nov;37(11):1258-63. [Content Brief]

[8]. Lesley J Bruce, et al. The monovalent cation leak in overhydrated stomatocytic red blood cells results from amino acid substitutions in the Rh-associated glycoprotein. Blood. 2009 Feb 5;113(6):1350-7. [Content Brief]

[9]. Raphael Rapetti-Mauss, et al. A mutation in the Gardos channel is associated with hereditary xerocytosis. Blood. 2015 Sep 10;126(11):1273-80. [Content Brief]

[10]. Ryan Zarychanski, et al. Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis. Blood. 2012 Aug 30;120(9):1908-15. [Content Brief]

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