Complexity of the alpha-globin genotypes identified with thalassemia screening in Sardinia.

Abstract excerpt

α-Thalassemia commonly results from deletions or point mutations in one or both α-globin genes located on chromosome 16p13.3 giving rise to complex and variable genotypes and phenotypes. Rarely, unusual non-deletion defects or atypical deletions down-regulate the expression of the α-globin gene. In the last decade of the program for β-thalassemia carrier screening and genetic counseling in Sardinia, the...

Topics

• Alleles
• Carrier State
• Chromosomes, Human, Pair 16
• Gene Frequency
• Genetic Association Studies
• Genetic Testing
• Genotype
• Heterozygote
• Humans
• Italy
• Mutation
• Phenotype
• Polymorphism, Genetic
• Severity of Illness Index
• alpha-Globins
• alpha-Thalassemia
• beta-Thalassemia