Characterisation of a new α thalassemia 1 defect due to a partial deletion of the α globin gene complex
Open Access
- 11 November 1980
- journal article
- research article
- Published by Oxford University Press (OUP) in Nucleic Acids Research
- Vol. 8 (21) , 4889-4898
- https://doi.org/10.1093/nar/8.21.4889
Abstract
A new deletion causing α thalassemia has been characterised in a Greek family. Detailed mapping of the α gene complex shows that the deletion extends for 5.2 kb and removes the whole of the α 2 gene and the 5′ end of the α 1 gene. The affected chromosome, therefore produces no normal α chains and results in a phenotype of α thalassemia 1.Keywords
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