Alpha thalassaemia in two Spanish families.
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).
Villegas
A
A
Instituto Nacional de la Salud, Hospital Universitario San Carlos, Ciudad Universitaria, Madrid, Spain.
Calero
F
F
Vickers
M A
MA
Ayyub
H
H
Higgs
D R
DR
D000483:Alleles; D002872:Chromosome Deletion; D004247:DNA / Q000235:genetics; D004739:England; D005260:Female; D005838:Genotype; D005914:Globins / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D012315:RNA Caps / Q000235:genetics; D015183:Restriction Mapping; D013030:Spain / Q000208:ethnology; D013789:Thalassemia / Q000097:blood / Q000235:genetics*
D012315:RNA Caps; D005914:Globins; D004247:DNA