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/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.
Perrotta
S
S
Department of Paediatrics, Second University of Naples, Italy.
Iolascon
A
A
De Angelis
F
F
Pagano
L
L
Colonna
G
G
Cutillo
S
S
Miraglia del Giudice
E
E
D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D004612:Elliptocytosis, Hereditary / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D017433:Protein Structure, Secondary; D013049:Spectrin / Q000235:genetics*
D013049:Spectrin