H. Stomatocytosis Features - 1
Alternate name:
Hydrocytosis
Defect:
Stomatin
(band 7.2b) deficiency
Result of defect:
Influx
of Na++ exceeds the loss of K+
Clinical findings:
Mild,
moderate or severe hemolytic anemia
Thrombotic
episodes
Lab findings:
Increased
osmotic fragility
5 –
50% stomatocytes with macrocytosis
Deficiency
of 2,3-BPG
Cell
swells and becomes more stomatocytic