Factors influencing osmotic fragility of red blood cells in Duchenne muscular dystrophy

Abstract

Factors affecting osmotic fragility were studied in red blood cells of patients with Duchenne muscular dystrophy. The mean osmotic fragility (MOF), operationally defined as the NaCl concentration for 50% hemolysis, was found to be higher by 3.63 +/- 0.51 mM in Duchenne cells than in normal cells having an MOF of 60.1 +/- 0.5 mM NaCl buffered with 10 mM sodium phosphate at pH 7.0. However, about 20% of Duchenne patients had red cells indistinguishable from their age- and sex-matched controls. Temperature, pH, preincubation in plasma, and proteolytic digestion all affected Duchenne and normal cells to the same extent. However, after salt loss, induced either by preincubation in isotonic nonelectrolyte solutions or by exposure to ionophore A23187, Duchenne cells showed a greater change in MOF. Osmotic fragility of Duchenne cells was increased even in younger blood cells, suggesting that the membrane was abnormal in the early stages of red cell maturation.