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

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Abstract
Summary. We have defined the molecular basis of normal HbA2β‐thalassaemia associated with Hb Knossos. DNA sequence analysis of the δ globin gene in cis with βKnossos showed deletion of a single A in codon 59 leading to a premature termination at codon 60. This δº/βKnossos allele has been observed in three unrelated Egyptian families and associated with a single β haplotype (+ ‐ ‐ ‐ ‐ ++). One individual who was homozygous for the δº/βKnossos allele as well as heterozygous for a non‐deletional α thalassaemia, was completely clinically asymptomatic, while others have coinherited the δº/βKnossos allele with different β and α thalassaemia determinants. A study of the different genetic interactions giving rise to a spectrum of clinical phenotypes is reported.