Two British families with variants of the ‘cryohydrocytosis’ form of hereditary stomatocytosis

• Published in: British journal of haematology 1999-06, Vol.105 (4), p.1055-1065
• Main Authors: Coles, Suzanne E., Chetty, Margaret C., Ho, Mei M., Nicolaou, Anna, Kearney, J. W., Wright, Stephen D., Stewart, Gordon W.
• Format: Article
• Language: English
• Subjects: Anemia, Hemolytic, Congenital - epidemiology; Anemia, Hemolytic, Congenital - genetics; Anemia, Hemolytic, Congenital - metabolism; Anemias. Hemoglobinopathies; Biological and medical sciences; Cell Membrane Permeability - physiology; Cold Temperature; cryohydrocytosis; Diseases of red blood cells; Erythrocyte Membrane - physiology; Erythrocyte Volume; Female; haemolysis; Hematologic and hematopoietic diseases; Hematology; Humans; Male; Medical sciences; Pedigree; Potassium - metabolism; pseudohyperkalaemia; Sodium - metabolism; Sodium-Potassium-Exchanging ATPase; stomatin; stomatocytosis; Temperature; United Kingdom - epidemiology
• ISSN: 0007-1048; 1365-2141
• DOI: 10.1046/j.1365-2141.1999.01444.x

We describe two British families with similar, dominantly‐inherited, temperature‐related variants of hereditary stomatocytosis, consistent with the original description of ‘cryohydrocytosis’. The cells show a 5–6‐fold increase in passive permeability at 37°C with abnormal intracellular Na and K levels at 15–20 and 60–65 mmol/(l cells) respectively. Marked temperature effects were evident: lysis of red cells on storage in the cold was blatant and when whole heparinized blood was stored at room temperature, K accumulated in the plasma, producing ‘pseudohyperkalaemia’. Studies of the temperature dependence of passive permeability showed that the minimum in the passive permeability, which is seen in normal cells at 8–10°C, was shifted up to 23°C in these abnormal cells, such that the permeability at 0°C exceeded that at 37°C. The abnormal temperature dependence in these genetically abnormal red cells strongly resembles that seen in normal cells when suspended in media in which either Na or Cl has been replaced by an organic cation or anion: it could be said these cells had a genetic mutation that somehow rendered the cell resistant to the stabilizing action of NaCl at low temperatures.