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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

Eur J Haematol

Publication Date

1990

Volume

44

Pages

109 - 115

Keywords

Alleles Case Report Chromosome Deletion DNA/genetics England Female Genotype Globins/*genetics Human Male Pedigree RNA Caps/genetics Restriction Mapping Spain/ethnology Support, Non-U.S. Gov't Thalassemia/blood/*genetics