Article
Relationship between the severity of beta-thalassaemia syndromes and the number of alleviating mutations.
European journal of haematology - 1 Jan 1997
Ratip S, Petrou M, Old J M, Wonke B, Porter J B, Modell B
Abstract excerpt
Thalassaemia intermedia, defined as homozygous beta-thalassaemia in which patients are not transfusion-dependent, covers a wide range of clinical severity. It may arise because one or more genetic factors ameliorate the otherwise severe phenotype of thalassaemia major. Exactly which and how many such mutations are necessary to produce a thalassaemia intermedia phenotype is incompletely understood, although such...
Topics
- Adolescent
- Adult
- Aged
- Child
- Child, Preschool
- Female
- Genotype
- Humans
- Male
- Middle Aged
- Mutation
- Syndrome