Characterisation of a new α thalassemia 1 defect due to a partial deletion of the α globin gene complex | Zendy

L. Pressley | Zendy; Douglas R. Higgs | Zendy; B. Aldridge | Zendy; A. MetaxatouMavromati | Zendy; J. B. Clegg | Zendy; D.J. Weatheral | Zendy

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Characterisation 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. MetaxatouMavromati,

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.

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