Spectrin Anastasia (αI/78): a new spectrin variant (α45 Arg Thr) with moderate elliptocytogenic potential

We describe a white Italian kindred in which hereditary elliptocytosis (HE) is associated with abnormal level of α 1/78 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 α‐gene: α45 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.