Article
Genotype-phenotype correlations in beta-thalassemias.
Blood reviews - 1 Mar 1994
Cao A, Galanello R, Rosatelli M C
Abstract excerpt
In this paper we review the molecular basis of the marked heterogeneity of the thalassemia syndromes as well as the relative implications for carrier screening and prenatal diagnosis. The classical phenotype of heterozygous beta-thalassemia may be modified by a number of environmental and genetic interacting factors--among which the most relevant are: (1) coinheritance of alpha-thalassemia, which may normalize...
Topics
- Amino Acid Sequence
- Base Sequence
- Erythrocyte Indices
- Genetic Carrier Screening
- Genotype
- Globins
- Humans
- Molecular Sequence Data
- Mutation
- Phenotype
- Regulatory Sequences, Nucleic Acid
- Sequence Deletion