Open AccessCharacterisation of a new α thalassemia 1 defect due to a partial deletion of the α globin gene complex
Author(s) -
L. Pressley,
Douglas R. Higgs,
B. Aldridge,
A. Metaxatou-Mavromati,
J. B. Clegg,
D.J. Weatheral
Publication year - 1980
Publication title -
nucleic acids research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 9.008
H-Index - 537
eISSN - 1362-4954
pISSN - 0305-1048
DOI - 10.1093/nar/8.21.4889
Subject(s) - biology , genetics , gene , thalassemia , alpha thalassemia , alpha (finance) , alpha globulin , phenotype , gene mapping , globin , chromosome , gene deletion , microbiology and biotechnology , genotype , medicine , construct validity , nursing , mutant , patient satisfaction
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.