Article
[Molecular characterization of thalassemias in the Valencia community and its relationship with the hematological phenotype].
Sangre - 1 Oct 1998
Pérez Sirvent M, Moreno Miralles I, Boluferx Gilabert P, Lerma Alejos E, Gómez Rejas M A, Vayá Montaña A, Tascón Astigarraga A, Dasí Carpio M A, Martínez Silvestre M, López Espinosa A R, Hernández Mateo L, Gil Alfonso R
Abstract excerpt
PURPOSE: The aim of the study is to present the first results of molecular characterization of thalassaemias in Valencian Community and their relationship with the haematological parameters. PATIENTS AND METHODS: The study includes 87 thalassemic patients: 30 alpha-thalassaemias, 40 beta-thalassaemias and 17 delta beta-thalassaemias. The molecular alterations were studied in white cell blood DNA, either following...
Topics
- DNA Mutational Analysis
- Deoxyribonucleases, Type II Site-Specific
- Female
- Humans
- Male
- Mutation
- Phenotype
- Polymerase Chain Reaction
- Sequence Deletion
- Spain