Article
Elliptopoikilocytosis associated with the alpha 469 His-->Pro mutation in spectrin Barcelona (alpha I/50-46b).
Blood - 1 Sept 1993
Dalla Venezia N, Alloisio N, Forissier A, Denoroy L, Aymerich M, Vives-Corrons J L, Besalduch J, Besson I, Delaunay J
Abstract excerpt
We present two Spanish children with hereditary elliptopoikilocytosis. The mother displayed a symptomless elliptocytosis. Spectrin maps showed the alpha I/50-46b abnormality in the mother and in the children. The change was more conspicuous in the children than in the mother. The father carried t...
Topics
- Alleles
- Base Sequence
- Child
- Child, Preschool
- Elliptocytosis, Hereditary
- Exons
- Family Health
- Female
- Heterozygote
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Spain
- Spectrin