Article
β-Globin Mutations in Egyptian Patients With β-Thalassemia.
Laboratory medicine - 1 Jan 2015
Elmezayen Ammar D, Kotb Samia M, Sadek Nadia A, Abdalla Ebtesam M
Abstract excerpt
β-thalassemia is a common hereditary disorder, particularly in Middle Eastern countries. More than 200 mutations in the β globin gene have been reported; most are point mutations in functionally important regions (HBB; OMIM #141900)). The spectrum of mutations varies significantly between differe...
Topics
- Adolescent
- Adult
- Child
- Child, Preschool
- Cohort Studies
- DNA Mutational Analysis
- Egypt
- Female
- Genotype
- Humans
- Male
- Mutation
- Phenotype
- Young Adult