title: A novel delta 0 mutation in cis with Hb Knossos: a study of different genetic interactions in three Egyptian families.
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.
authors.affiliation: MRC Molecular Haematology Unit, John Radcliffe Hospital, Oxford.
authors.forename: R J
authors.initials: RJ
authors.lastname: Olds
authors.forename: T
authors.initials: T
authors.lastname: Sura
authors.forename: B
authors.initials: B
authors.lastname: Jackson
authors.forename: B
authors.initials: B
authors.lastname: Wonke
authors.forename: A V
authors.initials: AV
authors.lastname: Hoffbrand
authors.forename: S L
authors.initials: SL
authors.lastname: Thein
mesh_terms: D000328:Adult; D000483:Alleles; D001483:Base Sequence; D004247:DNA / Q000032:analysis*; D004534:Egypt / Q000208:ethnology; D005260:Female; D005784:Gene Amplification; D005914:Globins / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D016133:Polymerase Chain Reaction; D015183:Restriction Mapping; D013789:Thalassemia / Q000208:ethnology / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; C036232:hemoglobin Knossos; D005914:Globins; D004247:DNA