title: Characterisation of a new alpha thalassemia 1 defect due to a partial deletion of the alpha globin gene complex.
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.
mesh_terms: D002872:Chromosome Deletion; D004262:DNA Restriction Enzymes / Q000378:metabolism; D005796:Genes; D005914:Globins / Q000235:genetics*; D006801:Humans; D010375:Pedigree; D013789:Thalassemia / Q000235:genetics*
chemical_list: D005914:Globins; D004262:DNA Restriction Enzymes