Cryohydrocytosis

Definition:

Cryohydrocytosis (CHC) is an exceedingly rare condition which shows a mild stomatocytic haemolytic state with hyperbilirubinaemia. Red blood cells from patients with CHC have increased membrane permeability to sodium and potassium ions, which is particularly pronounced at 0 degrees Celsius.

References:

[1]. Anna Bogdanova, et al. Cryohydrocytosis: increased activity of cation carriers in red cells from a patient with a band 3 mutation. Haematologica. 2010 Feb;95(2):189-98. [Content Brief]

[2]. 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]

[3]. S E Coles, et al. Two British families with variants of the 'cryohydrocytosis' form of hereditary stomatocytosis. Br J Haematol. 1999 Jun;105(4):1055-65. [Content Brief]

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