stomatocytosis; hydrocytosis; xerocytosis
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Etiology
Pathology
- abnormally increased cation influx results in swollen erythrocytes, hemolysis, & hydrocytosis
- net loss of cations and water results in xerocytosis
Laboratory
- complete blood count
- anemia
- MCV as high as 110-150 fL hydrocytes
- Coulter counter overestimates size of xerocytes
- WBC count & platelet count generally normal
- reticulocyte count is elevated with hemolysis
- peripheral blood smear
- 5-50% stomatocytes; < 3% is normal
- osmotic fragility test
- overhydrated stomatocytosis are osmotically fragile
- dehydrated stomatocytosis are resistant to osmotic lysis
Management
- folic acid for significant hemolysis
- chelation with deferoxamine for iron overload
More general terms
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Additional terms
References
- ↑ Kanwar VS and Coppes MJ eMedicine: Hereditary Disorders of Red Cell Permeability http://emedicine.medscape.com/article/955921-overview