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1: Br J Haematol. 1995 Apr;89(4):933-6.Links

Spectrin Anastasia (alpha I/78): a new spectrin variant (alpha 45 Arg-->Thr) with moderate elliptocytogenic potential.

Perrotta S, Iolascon A, De Angelis F, Pagano L, Colonna G, Cutillo S, Miraglia del Giudice E.

Department of Paediatrics, Second University of Naples, Italy.

We describe a white Italian kindred in which hereditary elliptocytosis (HE) is associated with abnormal level of alpha I/78 peptide in spectrin digest. Clinical phenotype varied among the family members ranging from asymptomatic to mild haemolytic HE. The original mutation responsible is a G-C substitution of the spectrin alpha-gene: alpha 45 Arg-->Thr (AGG-->ACG). The corresponding spectrin is designated spectrin Anastasia. Utilizing a secondary structure predictive method we suggest that this mutation has a poor capability to induce conformational changes of the tetramerization site and thus shows a moderate elliptocytogenic potential.

PMID: 7772539 [PubMed - indexed for MEDLINE]