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Article

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

European journal of haematology - 1 Feb 1994

Maréchal J, Wada H, Koffa T, Kanzaki A, Wilmotte R, Ikoma K, Yawata A, Inoue T, Takanashi K, Miura A

Abstract excerpt

A dominantly-inherited hereditary elliptocytosis of intermediate severity was recorded in a Japanese family from Yamagata. The condition was associated with a spectrin truncated beta-chain (MW: 214 kD; 31% of total beta-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 beta-gene. At the gene...

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PMID: 8119389
DOI: 10.1111/j.1600-0609.1994.tb01292.x

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