Characterisation of a new alpha thalassemia 1 defect due to a partial deletion of the alpha globin gene complex.
Pressley L., Higgs DR., Aldridge B., Metaxatou-Mavromati A., Clegg JB., Weatherall DJ.
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.