Article
The Corfu delta beta thalassaemia mutation in Greece: haematological phenotype and prevalence.
British journal of haematology - 1 Oct 1991
Traeger-Synodinos J, Tzetis M, Kanavakis E, Metaxotou-Mavromati A, Kattamis C
Abstract excerpt
The Corfu delta beta thalassaemia mutation, a 7.2 kb deletion partially removing the delta-globin gene and a single nucleotide mutation (G----A) at intervening sequence I (IVSI-n5) in the beta-globin gene in cis, was first described in a family from Corfu; the carriers for this mutation had the unusual haematological phenotype of heterozygous beta-thalassaemia with normal levels of HbA2. To investigate the...
Topics
- Chromosome Deletion
- Fetal Hemoglobin
- Gene Expression
- Globins
- Hemoglobin A2
- Heterozygote
- Homozygote
- Humans
- Mutation
- Phenotype
- Prevalence
- Thalassemia