LINKAGE OF DOMINANT HEREDITARY SPHEROCYTOSIS TO THE GENE FOR THE ERYTHROCYTE MEMBRANE-SKELETON PROTEIN ANKYRIN

HEREDITARY spherocytosis is a heterogeneous disorder characterized by hemolytic anemia, spheroidal red cells, and increased osmotic fragility of erythrocytes. The majority of the patients have an autosomal dominant pattern of inheritance. It is the most common hereditary hemolytic disorder in people of northern European ancestry, occurring at a prevalence of approximately 1 in 5000. Several lines of evidence suggest that it is a disorder of the red-cell membrane skeleton, although the precise molecular defect has not been identified.1 2 3 The erythrocyte membrane skeleton is composed of a network of proteins underlying the lipid bilayer, including spectrin, actin, protein 4.1, protein 4.2,. © 1990, Massachusetts Medical Society. All rights reserved.