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. 1980 Nov 11;8(21):4889–4898. doi: 10.1093/nar/8.21.4889

Characterisation of a new alpha thalassemia 1 defect due to a partial deletion of the alpha globin gene complex.

L Pressley, D R Higgs, B Aldridge, A Metaxatou-Mavromati, J B Clegg, D J Weatherall
PMCID: PMC324266  PMID: 6255436

Abstract

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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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