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      A novel delta 0 mutation in cis with Hb Knossos: a study of different genetic interactions in three Egyptian families.

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          Abstract

          We have defined the molecular basis of normal HbA2 beta-thalassaemia associated with Hb Knossos. DNA sequence analysis of the delta globin gene in cis with beta Knossos showed deletion of a single A in codon 59 leading to a premature termination at codon 60. This delta 0/beta Knossos allele has been observed in three unrelated Egyptian families and associated with a single beta haplotype (+----++). One individual who was homozygous for the delta 0/beta Knossos allele as well as heterozygous for a non-deletional alpha thalassaemia, was completely clinically asymptomatic, while others have coinherited the delta 0/beta Knossos allele with different beta and alpha thalassaemia determinants. A study of the different genetic interactions giving rise to a spectrum of clinical phenotypes is reported.

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          Author and article information

          Journal
          Br J Haematol
          British journal of haematology
          Wiley
          0007-1048
          0007-1048
          Jul 1991
          : 78
          : 3
          Affiliations
          [1 ] MRC Molecular Haematology Unit, John Radcliffe Hospital, Oxford.
          Article
          10.1111/j.1365-2141.1991.tb04460.x
          1873227
          58e74807-67e1-4566-b0b7-61b844329c93
          History

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