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α Thalassaemia in two Spanish families
Author(s) -
Villegas A.,
Calero F.,
Vickers M. A.,
Ayyub H.,
Higgs D. R.
Publication year - 1990
Publication title -
european journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0902-4441
DOI - 10.1111/j.1600-0609.1990.tb00360.x
Subject(s) - genetics , allele , gene , biology , dna , thalassemia
Two Spanish families with α thalassaemia, including 4 individuals with Hb H disease, are described. DNA mapping shows that, in addition to the common α thalassaemia determinant (‐α 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 α genes ( ‐SPAN ). in the other, a deletion of more than 100 kb has removed the entire α globin gene complex ( ‐BR ).