Article
Novel and Mediterranean beta thalassemia mutations in the indigenous Northern Ireland population.
Blood cells, molecules & diseases - 1 Jan 2000
Knott M, Ramadan K M A, Savage G, Jones F G C, El-Agnaf M, McMullin M F, Percy M J
Abstract excerpt
beta thalassemia is one of the most common genetic diseases worldwide resulting from aberrant beta-globin chain production. It is highly prevalent in regions with endemic malaria, but it is also present at low frequency in the indigenous populations of non-tropical areas such as Britain. Screening beta thalassemia trait individuals from Northern Ireland has detected 2 Mediterranean mutations, 39 (C --> T) and...
Topics
- Adolescent
- Adult
- Aged
- Child
- DNA Mutational Analysis
- Female
- Frameshift Mutation
- Globins
- Haplotypes
- Humans
- Male
- Middle Aged
- Mutation
- Northern Ireland
- Point Mutation
- Population Groups
- beta-Thalassemia