Article
Different hematological phenotypes caused by the interaction of triplicated alpha-globin genes and heterozygous beta-thalassemia.
American journal of hematology - 1 Jun 1997
Camaschella C, Kattamis A C, Petroni D, Roetto A, Sivera P, Sbaiz L, Cohen A, Ohene-Frempong K, Trifillis P, Surrey S, Fortina P
Abstract excerpt
The pathophysiology and clinical severity of beta-thalassemia are related to the degree of alpha/non-alpha-chain imbalance. A triplicated alpha-globin gene locus can exacerbate effects of excess alpha-chains caused by a defective beta-globin gene, although this is not observed in all cases. Exten...
Topics
- Adult
- Female
- Gene Expression Regulation
- Globins
- Hemoglobinopathies
- Heterozygote
- Humans
- Male
- Multigene Family
- Pedigree
- Phenotype
- beta-Thalassemia