Article
Structural and functional heterogeneity of alpha spectrin mutations involving the spectrin heterodimer self-association site: relationships to hematologic expression of homozygous hereditary elliptocytosis and hereditary pyropoikilocytosis.
Blood - 1 Jun 1990
Coetzer T, Palek J, Lawler J, Liu S C, Jarolim P, Lahav M, Prchal J T, Wang W, Alter B P, Schewitz G
Abstract excerpt
Defects involving alpha spectrin (Sp) are found in patients with hereditary elliptocytosis and a related disorder, hereditary pyropoikilocytosis (HPP). We have previously found that the severity of hemolysis was related to the total spectrin content of the cells and the percentage of unassembled dimeric Sp (SpD) in the membranes, which, in turn, reflected the amount of mutant Sp in the cell. However, no data are...
Topics
- Adolescent
- Adult
- Child
- Child, Preschool
- Cytoskeleton
- Elliptocytosis, Hereditary
- Erythrocyte Membrane
- Erythrocytes, Abnormal
- Female
- Hematologic Diseases