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Article

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

Blood - 1 Sept 1993

Dalla Venezia N, Alloisio N, Forissier A, Denoroy L, Aymerich M, Vives-Corrons J L, Besalduch J, Besson I, Delaunay J

Abstract excerpt

We present two Spanish children with hereditary elliptopoikilocytosis. The mother displayed a symptomless elliptocytosis. Spectrin maps showed the alpha I/50-46b abnormality in the mother and in the children. The change was more conspicuous in the children than in the mother. The father carried the alpha V/41 allele, which is a common allele endowed with low expression. The alpha V/41 allele was also present in...

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PMID: 8364215

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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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