Article
Hereditary pyropoikilocytosis and elliptocytosis in a white French family with the spectrin alpha I/74 variant related to a CGT to CAT codon change (Arg to His) at position 22 of the spectrin alpha I domain.
Blood - 15 Apr 1990
Garbarz M, Lecomte M C, Féo C, Devaux I, Picat C, Lefebvre C, Galibert F, Gautero H, Bournier O, Galand C
Abstract excerpt
We describe a white French family in which 12 subjects presented with hereditary elliptocytosis (HE) or hereditary pyropoikilocytosis (HPP). Eight of these subjects were shown to be heterozygous for a spectrin (Sp) alpha I/74 variant, as demonstrated by analysis of partial tryptic digestion fragm...
Topics
- Adult
- Aged
- Alleles
- Amino Acid Sequence
- Anemia, Hemolytic, Congenital
- Base Sequence
- Codon
- DNA
- Elliptocytosis, Hereditary
- Erythrocyte Count
- Erythrocyte Deformability
- Erythrocyte Membrane
- Female
- Genetic Variation