Article
Molecular characterization of beta-thalassemia intermedia in patients of Italian descent and identification of three novel beta-thalassemia mutations.
Blood - 15 Mar 1991
Murru S, Loudianos G, Deiana M, Camaschella C, Sciarratta G V, Agosti S, Parodi M I, Cerruti P, Cao A, Pirastu M
Abstract excerpt
In this study, we have defined by dot-blot analysis with allelic specific oligonucleotide probes or direct sequencing on amplified DNA the beta-thalassemia mutations in a large group of patients (23) of Italian descent with thalassemia intermedia. These patients had one parent with either the silent beta-thalassemia carrier phenotype or borderline-normal hemoglobin A2 (HbA2) levels (2.5% to 3.5%). Nearly all were...
Topics
- Adult
- Autoradiography
- Base Sequence
- Chromosome Deletion
- DNA
- Female
- Gene Amplification
- Globins
- Humans
- Immunoblotting
- Italy