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stomatocytosis

MIM.185000 9q34.1

Wednesday 26 January 2005

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