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stomatocytosis; hydrocytosis; xerocytosis
Etiology:
- hereditary & sporadic
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
Related
stomatocyte
stomatocytes in blood
Specific
hereditary stomatocytosis (cryohydrocytosis)
General
erythrocyte disorder
References
- Kanwar VS and Coppes MJ
eMedicine: Hereditary Disorders of Red Cell Permeability
http://emedicine.medscape.com/article/955921-overview