Hereditary Stomatocytosis

  • Rare
  • Autosomal dominant inheritance
  • Abnormal permeability to Na+ and K+ resulting in overhydrated cells which take on a stomatocytic ("slit" or "mouth" -cells) appearance
  • Specific membrane abnormality

Haematological Profile:

Stomatocyte
Figure 1. Stomatocyte
  • More than 25% stomatocytes are required for a diagnosis of elliptocytosis

Treatment:

  • Splenectomy produces variable results.
New look for June 2003