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Article

Evidence that expression of Sp alpha I/65 hereditary elliptocytosis is compounded by a genetic factor that is linked to the homologous alpha-spectrin allele.

Human genetics - 1 Oct 1990

Guetarni D, Roux A F, Alloisio N, Morlé F, Ducluzeau M T, Forget B G, Colonna P, Delaunay J, Godet J

Abstract excerpt

Many cases of hereditary elliptocytosis (HE) result from mutated spectrin alpha-chains. It has repeatedly been observed that the amount of a mutant alpha-chain is different in various affected individuals, resulting in clinical pictures of variable severity. The different levels are thought to result from different percentages of the alpha-spectrin allele in trans. Such percentages, in turn, could be under...

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Identifiers

PMID: 2227954
DOI: 10.1007/BF00193587

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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.

Related research

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Evidence that expression of Sp alpha I/65 hereditary elliptocytosis is compounded by a genetic factor that is linked to the homologous alpha-spectrin allele.PMID 2227954Read ↗

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Molecular basis of clinical and morphological heterogeneity in hereditary elliptocytosis (HE) with spectrin alpha I variants.Semantic proximity Read ↗

Elliptopoikilocytosis associated with the alpha 469 His-->Pro mutation in spectrin Barcelona (alpha I/50-46b).Semantic proximity Read ↗

Mild elliptocytosis associated with the alpha 34 Arg-->Trp mutation in spectrin Genova (alpha I/74).Semantic proximity Read ↗

Hereditary pyropoikilocytosis and elliptocytosis in a white French family with the spectrin alpha I/74 variant related to a CGT to CAT codon change (Arg to His) at position 22 of the spectrin alpha I domain.Semantic proximity Read ↗

Occurrence of the alpha I 22 Arg----His (CGT----CAT) spectrin mutation in Tunisia: potential association with severe elliptopoikilocytosis.Semantic proximity Read ↗

Spectrin Jendouba: an alpha II/31 spectrin variant that is associated with elliptocytosis and carries a mutation distant from the dimer self-association site.Semantic proximity Read ↗

Genetic basis of the polymorphisms of the alphaI domain of spectrin.Semantic proximity Read ↗

Identification of three novel spectrin alpha I/74 mutations in hereditary elliptocytosis: further support for a triple-stranded folding unit model of the spectrin heterodimer contact site.Semantic proximity Read ↗

A variant of spectrin low-expression allele alpha LELY carrying a hereditary elliptocytosis mutation in codon 28.Semantic proximity Read ↗

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