SPECTRIN ANASTASIA (ALPHA(I/78)) - A NEW SPECTRIN VARIANT (ALPHA-45 ARG-]THR) WITH MODERATE ELLIPTOCYTOGENIC POTENTIAL

We describe a white Italian kindred in which hereditary elliptocytosis (HE) is associated with abnormal level of alpha(I/798) 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.