title: Alpha thalassaemia in two Spanish families.
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).
authors.affiliation: Instituto Nacional de la Salud, Hospital Universitario San Carlos, Ciudad Universitaria, Madrid, Spain.
authors.forename: A
authors.initials: A
authors.lastname: Villegas
authors.forename: F
authors.initials: F
authors.lastname: Calero
authors.forename: M A
authors.initials: MA
authors.lastname: Vickers
authors.forename: H
authors.initials: H
authors.lastname: Ayyub
authors.forename: D R
authors.initials: DR
authors.lastname: Higgs
mesh_terms: 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*
chemical_list: D012315:RNA Caps; D005914:Globins; D004247:DNA