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Nucleic Acids Research, 1980, Vol. 8, No. 21 4889-4898
© 1980

MOLECULAR BIOLOGY

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

Lynne Pressley, D.R. Higgs, B. Aldridge, A. Metaxatou-Mavromati*, J.B. Clegg and D.J. Weatheral

M.R.C. Molecular Haematology Unit, Nuffield Department of Clinical Medicine, John Radcliffe Hospital Oxford, OX3 9DU, UK *Thalassaemia Unit, 1st Department of Paediatrics, Athens University, Aghia Sophia Childrens Hospital Athens, Greece

Received September 5, 1980. 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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