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Article

Molecular basis of red cell membrane disorders.

Acta haematologica - 1 Jan 2002

Delaunay Jean

Abstract excerpt

We will consider an array of genetic disorders of the red cell membrane. Some affect well-known genes. The mutations of most cases of hereditary spherocytosis (HS) are located in the following genes: ANK1, SPTB, SLC4A1, EPB42 and SPTA1, which encode ankyrin, spectrin beta-chain, the anion exchanger 1 (band 3), protein 4.2 and spectrin alpha-chain, respectively. A dominant form of distal renal tubular acidosis...

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Share to Anemia, Hemolytic, Congenital
Share to Blood properties and coagulation
Share to Erythrocyte Function and Pathophysiology

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Erythrocytes, Abnormal

Share to Membrane Proteins

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Source

Identifiers

PMID: 12432217
DOI: 10.1159/000065657

Genes

SPTA1
SPTB
ANK1
EPB41
EPB42

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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