stomatocytosis
MIM.185000 9q34.1
Autosomal dominant hemolytic anemia.
Synopsis
shortened erythrocyte survival
increased erythrocyte osmotic fragility -erythrocytes uniconcave with slitlike rather than circular area of central pallor in stained preparations
absent 28-kD integral protein from red cell membranes
increased intracellular sodium
Etiology
Locus 9q34.1
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