Article
Phenotype variability of the dominant beta-thalassemia induced in four Dutch families by the rare cd121 (G-->T) mutation.
Annals of hematology - 1 Dec 1998
Giordano P C, Harteveld C L, Michiels J J, Terpstra W, Schelfhout L J, Appel I M, Batelaan D, van Delft P, Plug R J, Bernini L F
Abstract excerpt
Eight patients who were carriers of beta-thalassemia induced by the cd121 (G-->T) mutation are described in four nonrelated Dutch families. This mutant, which is considered rare and inherited in a dominant manner, is expressed in a different way among each of the four families and even among carr...
Topics
- Adult
- Female
- Gene Amplification
- Genes, Dominant
- Globins
- Guanosine
- Humans
- Male
- Middle Aged
- Netherlands
- Pedigree
- Phenotype
- Point Mutation
- Thymidine
- beta-Thalassemia