Article
Heterogeneity of the molecular basis of hereditary pyropoikilocytosis and hereditary elliptocytosis associated with increased levels of the spectrin alpha I/74-kilodalton tryptic peptide.
Blood - 1 Sept 1991
Floyd P B, Gallagher P G, Valentino L A, Davis M, Marchesi S L, Forget B G
Abstract excerpt
Hereditary pyropoikilocytosis (HPP) and hereditary elliptocytosis are closely related, congenital disorders of the red blood cell usually associated with defective spectrin self-association and abnormal limited tryptic digestion of the N-terminal of domain of spectrin. Enhanced cleavage by trypsin of spectrin from affected individuals at arginyl residue 45* and lysyl residue 48* frequently yields increased...
Topics
- Adolescent
- Adult
- Amino Acid Sequence
- Anemia, Hemolytic, Congenital
- Child, Preschool
- Elliptocytosis, Hereditary
- Erythrocyte Membrane
- Erythrocytes, Abnormal
- Exons
- Female