Article
A common type of the spectrin alpha I 46-50a-kD peptide abnormality in hereditary elliptocytosis and pyropoikilocytosis is associated with a mutation distant from the proteolytic cleavage site. Evidence for the functional importance of the triple helical model of spectrin.
The Journal of clinical investigation - 1 Mar 1992
Gallagher P G, Tse W T, Coetzer T, Lecomte M C, Garbarz M, Zarkowsky H S, Baruchel A, Ballas S K, Dhermy D, Palek J
Abstract excerpt
We studied nine individuals from five unrelated families with alpha I/46-50a hereditary elliptocytosis (HE) or hereditary pyropoikilocytosis (HPP), including one of the original HHP probands first reported by Zarkowsky and colleagues (1975. Br. J. Haematol. 29:537-543). Biochemical analysis of erythrocyte membrane proteins from these patients revealed, as a common abnormality, the presence of the alpha I/46-50a...
Topics
- Amino Acid Sequence
- Anemia, Hemolytic, Congenital
- Base Sequence
- Elliptocytosis, Hereditary
- Erythrocyte Deformability
- Erythrocytes, Abnormal
- Humans
- Models, Molecular
- Molecular Sequence Data