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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).


Journal article


European journal of haematology

Publication Date





109 - 115


Instituto Nacional de la Salud, Hospital Universitario San Carlos, Ciudad Universitaria, Madrid, Spain.


Humans, Thalassemia, Chromosome Deletion, Globins, DNA, RNA Caps, Restriction Mapping, Pedigree, Genotype, Alleles, England, Spain, Female, Male