Hereditary elliptocytosis associated with spectrin Le Puy in a Japanese family: Ultrastructural aspect of the red cell skeleton

摘要

Abstract: A dominantly‐inherited hereditary elliptocytosis of intermediate severity was recorded in a Japanese family from Yamagata. The condition was associated with a spectrin truncated β‐chain (MW: 214 kD; 31 of total β‐spectrin), and a defect of mutant spectrin as regards tetramerization and phosphorylation. cDNA analysis revealed skipping of exon X, the third‐to‐last exon of the spectrin β‐gene. At the gene level, a one‐base substitution (A→G) changed position +4 of the 5′ donor splice site consensus sequence of intron X. This mutation has been described before in a French kindred, defining spectrin Le Puy. Electron micrographs following quick‐freeze deep‐etching showed that the skeleta