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A novel δº mutation in cis with Hb Knossos: a study of different genetic interactions in three Egyptian families
Author(s) -
Olds R. J.,
Sura T.,
Jackson B.,
Wonke B.,
Hoffbrand A. V.,
Thein S. L.
Publication year - 1991
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1991.tb04460.x
Subject(s) - genetics , allele , haplotype , biology , mutation , gene , globin , hemoglobinopathy , asymptomatic , microbiology and biotechnology , medicine , hemolytic anemia , immunology
Summary. We have defined the molecular basis of normal HbA 2 β‐thalassaemia associated with Hb Knossos. DNA sequence analysis of the δ globin gene in cis with β Knossos showed deletion of a single A in codon 59 leading to a premature termination at codon 60. This δº/β Knossos allele has been observed in three unrelated Egyptian families and associated with a single β haplotype (+ ‐ ‐ ‐ ‐ ++). One individual who was homozygous for the δº/β Knossos allele as well as heterozygous for a non‐deletional α thalassaemia, was completely clinically asymptomatic, while others have coinherited the δº/β Knossos 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.