South-east Asian ovalocytosis and the cryohydrocytosis form of hereditary stomatocytosis show virtually indistinguishable cation permeability defects

作者：Guizouarn Helene; Borgese Franck; Gabillat Nicole; Harrison Penny; Goede Jeroen S; McMahon Corrina; Stewart Gordon W; Bruce Lesley J^*

来源：British Journal of Haematology, 2011, 152(5): 655-664.

DOI：10.1111/j.1365-2141.2010.08454.x

• red cell
• band 3 (AE1)
• cryohydrocytosis
• south-east Asian ovalocytosis
• cation leak

P>The hereditary stomatocytoses are a group of dominantly inherited conditions in which the osmotic stability of the red cell is compromised by abnormally high cation permeability. This report demonstrates the very marked similarities between the cryohydrocytosis form of hereditary stomatocytosis and the common tropical condition south-east Asian ovalocytosis (SAO). We report two patients, one showing a novel cryohydrocytosis variant (Ser762Arg in SLC4A1) and a case of SAO. Both cases showed a mild haemolytic state with some stomatocytes on the blood film, abnormal intracellular sodium and potassium levels which were made markedly abnormal by storage of blood at 0 degrees C, increased cation 'leak' fluxes at 37 degrees C and increased Na+K+ pump activity. In both cases, the anion exchange function of the mutant band 3 was destroyed. Extensive electrophysiological studies comparing the cation leak and conductance in Xenopus laevis oocytes expressing the two mutant genes showed identical patterns of abnormality. These data are consistent with the cryohydrocytosis form of hereditary stomatocytosis and we conclude that the cation leak in SAO is indistinguishable from that in cryohydrocytosis, and that SAO should be considered to be an example of hereditary stomatocytosis.

• 出版日期2011-3