Genetic Modifying Factors in β-Thalassemia
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Antonio Cao
Abstract
The β-thalassemia is probably the most extensively studied genetic disease. Essentially any molecular defect that has been first described in association with the globin genes has been later implicated as a molecular determinant of newly discovered genes. Accordingly, the thalassemias have always represented a model genetic disease, especially in relation to the development of programs for population screening, genetic counseling and prenatal diagnosis. Here we will review the present knowledge on the genetics of thalassemia and of the relevant modifying factors. Major categories of the carrier state, the genotypes, the clinical phenotypes and the correlation between genotype and phenotype will be discussed.
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Articles in the same Issue
- IFCC WorldLab '99
- Markers of Endothelial Dysfunction
- Standardization and Quality Control of PCR Analyses
- Histochemical and Immunocytochemical Approaches to the Study of Oxidative Stress
- Sniffing out the Truth: Clinical Diagnosis Using the Electronic Nose
- Oncogenes and Thyroid Cancer
- Paraneoplastic Syndromes of the Nervous System
- Genetic Modifying Factors in β-Thalassemia
- The Genetics of Multiple Sclerosis
- Near-Infrared Reflectance Spectroscopy for Noninvasive Monitoring of Metabolites
- Ribozyme Gene Therapy for Autosomal Dominant Retinal Disease
- Oxidized Lipoproteins and Endothelium
- Experiences with External Quality Assessment (EQA) in Molecular Diagnostics in Clinical Laboratories in Germany
- Unravelling Genetic Data by Arrayed Primer Extension
- Evaluation of RNA Isolation Methods and Reference Genes for RT-PCR Analyses of Rare Target RNA
- IFCC WorldLab Daily News
