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ARTICLE |

Increased Erythrocytic Osmotic Fragility in Pseudohypertrophic Muscular Dystrophy FREE

Edwin R. Fisher, MD; Emmanuel Silvestri; John W. Vester, MD; Sean Nolan, MD; Usman Ahmad, MD; Thaddeus S. Danowski, MD
[+] Author Affiliations

Reprint requests to Director of Laboratories, Shadyside Hospital, 5230 Centre Ave, Pittsburgh, PA 15232 (Dr Fisher).


JAMA. 1976;236(8):955-955. doi:10.1001/jama.1976.03270090049032
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THE DEMONSTRATION by scanning electron microscopy1 that erythrocytes in patients with pseudohypertrophic muscular dystrophy (PHMD) have an irregular, crenated-like surface prompted us to investigate the fragility of these erythrocytes, since crenation represents an early stage in the development of osmotic fragility.2 Our studies indicate that the susceptibility of erythrocytes to hemolysis in hypotonic saline is increased in 85% of patients with PHMD.

Materials and Methods  Venous blood (0.1 ml) from 94 patients with PHMD and 19 healthy, aging, and sex-matched controls was added to hypotonic saline for the detection of osmotic fragility of erythrocytes. The concentrations of saline are indicated in the Table. The percent of hemolysis of erythrocytes was determined by spectrophotometry.The diagnosis of PHMD was based in each instance on muscle weakness on recording ergometry, increased calf size, and increased serum creatine phosphokinase levels. In addition, electromyography (41 patients), motor nerve conduction velocity (40 patients),

REFERENCES

Matheson DW, Howland JL:  Erythrocyte deformation in human muscular dystrophy . Science 184:165-166, 1974;.
Miale JB: Laboratory Medicine: Hematology , ed 4. St Louis, The CV Mosby Co Publishers, 1972;, p 648.
Probstfield JJ, Wang Y, From AHL:  Cation transport in Duchenne muscular dystrophy erythrocytes . Proc Soc Exp Biol Med 141:479-481, 1972;.
Kunze D, Reichmann G, Egger S, et al:  Erythrozytenlipide bei progessiver Muskeldyotrophie . Clin Chim Acta 43:333-341, 1973;.
Roses AD, Roses MJ, Miller SE, et al:  Carrier detection in muscular dystrophy . N Engl J Med 294:193-198, 1976;.

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Matheson DW, Howland JL:  Erythrocyte deformation in human muscular dystrophy . Science 184:165-166, 1974;.
Miale JB: Laboratory Medicine: Hematology , ed 4. St Louis, The CV Mosby Co Publishers, 1972;, p 648.
Probstfield JJ, Wang Y, From AHL:  Cation transport in Duchenne muscular dystrophy erythrocytes . Proc Soc Exp Biol Med 141:479-481, 1972;.
Kunze D, Reichmann G, Egger S, et al:  Erythrozytenlipide bei progessiver Muskeldyotrophie . Clin Chim Acta 43:333-341, 1973;.
Roses AD, Roses MJ, Miller SE, et al:  Carrier detection in muscular dystrophy . N Engl J Med 294:193-198, 1976;.
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