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Somatic deletion of the normal β‐globin gene leading to thalassaemia intermedia in heterozygous β‐thalassaemic patients
Author(s) -
Galanello Renzo,
Perseu Lucia,
Perra Chiara,
Maccioni Liliana,
Barella Susanna,
Longinotti Maurizio,
Cao Antonio,
Cazzola Mario
Publication year - 2004
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.1365-2141.2004.05237.x
Subject(s) - microbiology and biotechnology , biology , gene , reticulocyte , genetics , locus (genetics) , hemoglobinopathy , genotype , beta (programming language) , hemolytic anemia , rna , immunology , computer science , programming language
Summary Two β‐thalassaemia patients, whose constitutive genotype was β 39C /β 39C→T , had the clinical phenotype β‐thalassaemia intermedia. Analysis of leucocyte DNA showed the presence of the mutated β 39C→T ‐gene exclusively, while the normal β 39C ‐gene was also present in reticulocyte RNA. Deletional analysis of chromosome 11p15.5 on leucocyte DNA showed large deletions including the β‐globin gene. Two populations of erythroid progenitors, one heterozygous and the other hemizygous for the β 39C→T mutation, were demonstrated in one case. This confirms that, in heterozygous individuals, β‐thalassaemia intermedia may be caused by inactivation of the β‐locus in trans as a result of chromosome 11p15.5 deletions in a subpopulation of haematopoietic cells.