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Article

Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis.

Human mutation - 1 Jan 1996

Maillet P, Alloisio N, Morlé L, Delaunay J

Abstract excerpt

Hereditary elliptocytosis (HE), its aggravated form hereditary pyropoikilocytosis (HPP), and hereditary spherocytosis (HS) designate a set of congenital hemolytic syndromes. The responsible mutations lie in several genes encoding proteins of the red cell membrane. In particular, they involve the SPTA1 and SPTB genes that encode erythroid spectrin alpha- and beta-chains, respectively. In situ, spectrin is a alpha...

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Source

Identifiers

PMID: 8844207
DOI: 10.1002/(SICI)1098-1004(1996)8:2<97::AID-HUMU1>3.0.CO;2-M

Genes

SPTA1
SPTB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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