GTR Home > Conditions/Phenotypes > Stomatocytosis I

Summary

Overhydrated hereditary stomatocytosis is a variably compensated macrocytic hemolytic anemia of fluctuating severity, characterized by circulating erythrocytes with slit-like lucencies (stomata) evident on peripheral blood smears. OHST red cells exhibit cation leak, resulting in elevated cell Na+ content with reduced K+ content, with increased ouabain-resistant cation leak fluxes in the presence of presumably compensatory increases in ouabain-sensitive Na(+)-K(+) ATPase activity, and red cell age-dependent loss of stomatin/EBP7.2 (EBP72; 133090) from the erythroid membrane. Clinically, patients with OHST exhibit overhydrated erythrocytes and a temperature-dependent red cell cation leak. The temperature dependence of the leak is 'monotonic' and has a steep slope, reflecting the very large leak at 37 degrees centigrade (summary by Bruce, 2009 and Stewart et al., 2011). For a discussion of clinical and genetic heterogeneity of the hereditary stomatocytoses, see 194380. [from OMIM]

Available tests

1 test is in the database for this condition.

Genes See tests for all associated and related genes

  • Also known as: CD241, OHS, OHST, RH2, RH50A, Rh50, Rh50GP, SLC42A1, RHAG
    Summary: Rh associated glycoprotein

  • Also known as: BND7, EPB7, EPB72, STOM
    Summary: stomatin

Clinical features

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