Article
Homozygous beta-thalassaemia resulting in the beta-thalassaemia carrier state phenotype.
British journal of haematology - 1 Nov 1994
Rosatelli M C, Pischedda A, Meloni A, Saba L, Pomo A, Travi M, Fattore S, Cao A
Abstract excerpt
This paper describes the phenotypic manifestations of a very mild beta-thalassaemia mutation detected in several members of two families of Italian descent. The molecular defect, defined by denaturing gradient gel electrophoresis analysis and direct sequencing, consists of a C-->G substitution at position 844 of IVSII of the beta-globin gene within the consensus sequence of the IVSII acceptor splice site....
Topics
- Base Sequence
- DNA
- Female
- Genetic Carrier Screening
- Heterozygote
- Homozygote
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- beta-Thalassemia