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Article

A novel splicing mutation of the alpha-spectrin gene in the original hereditary pyropoikilocytosis kindred.

Blood - 15 Dec 2005

Costa Daniel B, Lozovatsky Larisa, Gallagher Patrick G, Forget Bernard G

Abstract excerpt

Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia due to abnormalities of the red blood cell (RBC) membrane skeleton. In the original HPP kindred, there is compound heterozygosity for an allele encoding a structural variant of alpha-spectrin (L207P) and an alpha-spectrin allele associated with a defect in alpha-spectrin production. To identify the molecular defect in the production-defective...

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

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Source

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Identifiers

PMID: 16150946
DOI: 10.1182/blood-2005-05-1813
PMCID: PMC1895230

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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.

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