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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).

Type

Journal article

Journal

European journal of haematology

Publication Date

02/1990

Volume

44

Pages

109 - 115

Addresses

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

Keywords

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