Article
Molecular basis of spectrin deficiency in beta spectrin Durham. A deletion within beta spectrin adjacent to the ankyrin-binding site precludes spectrin attachment to the membrane in hereditary spherocytosis.
The Journal of clinical investigation - 1 Dec 1995
Hassoun H, Vassiliadis J N, Murray J, Yi S J, Hanspal M, Ware R E, Winter S S, Chiou S S, Palek J
Abstract excerpt
We describe a spectrin variant characterized by a truncated beta chain and associated with hereditary spherocytosis. The clinical phenotype consists of a moderate hemolytic anemia with striking spherocytosis and mild spiculation of the red cells. We describe the biochemical characteristics of thi...
Topics
- Ankyrins
- Base Sequence
- Binding Sites
- Blotting, Southern
- Child, Preschool
- Cloning, Molecular
- Cytoplasm
- DNA Primers
- Erythroblasts
- Erythrocyte Membrane
- Female
- Genetic Variation
- Humans
- Macromolecular Substances