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NEUROLOGY 1980;30:726
© 1980 American Academy of Neurology

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

Hyun Dju Kim, Madan G. Luthra, Richard P. Watts and Lawrence Z. Stern

Departments of Physiology (Drs. Kim, Luthra, and Watts) and Neurology (Dr. Stern), The University of Arizona, College of Medicine, Tucson, AZ.

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.

Address correspondence and reprint requesta to Dr. Kim, Department of Physiology, Arizona Health Sciences Center, Tucson, AZ 85724.

Accepted for publication October 8, 1979.

Preliminary results of this work were presented at the Fourth International Congress on Neuromuscular Diseases, Montreal, Canada, September 1978.

This study was supported by grants from the Muscular Dystrophy Association. Dr. Kim is the recipient of an NIH Research Career Development Award AM-00316.







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