Article
Molecular diagnosis and carrier screening for beta thalassemia.
JAMA - 15 Oct 1997
Cao A, Saba L, Galanello R, Rosatelli M C
Abstract excerpt
Thalassemias are common autosomal recessive disorders especially in populations of Mediterranean, Middle Eastern, and Far Eastern descent. Relatively high incidence is also observed in people of Asian Indian origin but the incidence is more limited in those of African descent. Beta Thalassemias are heterogeneous at the molecular level, with more than 150 different molecular defects identified to date. Despite...
Topics
- DNA Mutational Analysis
- Female
- Genetic Carrier Screening
- Genetic Testing
- Genetics, Population
- Genotype
- Globins
- Humans
- Male
- Phenotype
- Pregnancy
- Prenatal Diagnosis