Article
Dominant beta-thalassaemia trait in a Portuguese family is caused by a deletion of (G)TGGCTGGTGT(G) and an insertion of (G)GCAG(G) in codons 134, 135, 136 and 137 of the beta-globin gene.
British journal of haematology - 1 Oct 1991
Oner R, Oner C, Wilson J B, Tamagnini G P, Ribeiro L M, Huisman T H
Abstract excerpt
We have studied a Portuguese family with a dominant beta-thalassaemia trait that was present in one member of each of three generations. It was characterized by a moderate anaemia, microcytosis and hypochromia, anisopoikilocytosis, Heinz body formation in peripheral red cells, splenomegaly, and a blood transfusion requirement during pregnancy. Sequence analyses of amplified DNA detected a deletion of (G)...
Topics
- Adolescent
- Adult
- Base Sequence
- Codon
- DNA Transposable Elements
- Female
- Genes, Dominant
- Globins
- Humans
- Male
- Middle Aged