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A new deletion causing alpha thalassemia has been characterised in a Greek family. Detailed mapping of the alpha gene complex shows that the deletion extends for 5.2 kb and removes the whole of the alpha 2 gene and the 5' end of the alpha 1 gene. The affected chromosome, therefore produces no normal alpha chains and results in a phenotype of alpha thalassemia 1.

Original publication

DOI

10.1093/nar/8.21.4889

Type

Journal article

Journal

Nucleic acids research

Publication Date

11/1980

Volume

8

Pages

4889 - 4898

Keywords

Humans, Thalassemia, Chromosome Deletion, DNA Restriction Enzymes, Globins, Pedigree, Genes