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  • Title: Characterisation of a new alpha thalassemia 1 defect due to a partial deletion of the alpha globin gene complex.
    Author: Pressley L, Higgs DR, Aldridge B, Metaxatou-Mavromati A, Clegg JB, Weatherall DJ.
    Journal: Nucleic Acids Res; 1980 Nov 11; 8(21):4889-98. PubMed ID: 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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