1. Alpha thalassaemia in two Spanish families.
- Author
-
Villegas A, Calero F, Vickers MA, Ayyub H, and Higgs DR
- Subjects
- Alleles, Chromosome Deletion, DNA genetics, England, Female, Genotype, Humans, Male, Pedigree, RNA Caps genetics, Restriction Mapping, Spain ethnology, Thalassemia blood, Globins genetics, Thalassemia genetics
- Abstract
Two Spanish families with alpha thalassaemia, including 4 individuals with Hb H disease, are described. DNA mapping shows that, in addition to the common alpha thalassaemia determinant (-alpha 3.7), a different and previously unreported allele is present in each family. In one, there is a deletion of 10.5-12 kb of DNA including both alpha genes (--SPAN). In the other, a deletion of more than 100 kb has removed the entire alpha globin gene complex (--BR).
- Published
- 1990