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Article

Combination of two mutant alpha spectrin alleles underlies a severe spherocytic hemolytic anemia.

The Journal of clinical investigation - 15 Nov 1996

Wichterle H, Hanspal M, Palek J, Jarolim P

Abstract excerpt

We studied a patient with a severe spherocytic hemolytic anemia without family history of spherocytosis. Analysis of patient's erythrocyte membrane proteins revealed spectrin deficiency and a truncated alpha spectrin protein. We determined that the patient is a compound heterozygote with two mutations in alpha spectrin gene. Mutation in the paternal allele, designated alpha spectrin(PRAGUE), is a transition A to...

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Identifiers

PMID: 8941647
DOI: 10.1172/JCI119041
PMCID: PMC507680

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

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