title: The Corfu delta beta thalassaemia mutation in Greece: haematological phenotype and prevalence.
abstract: The Corfu delta beta thalassaemia mutation, a 7.2 kb deletion partially removing the delta-globin gene and a single nucleotide mutation (G----A) at intervening sequence I (IVSI-n5) in the beta-globin gene in cis, was first described in a family from Corfu; the carriers for this mutation had the unusual haematological phenotype of heterozygous beta-thalassaemia with normal levels of HbA2. To investigate the frequency and haematological characteristics of Corfu delta beta thalassaemia in Greece we analysed 25 unrelated normal HbA2 type 2 beta-thalassaemia heterozygotes and their 23 clinically affected offspring. Gene mapping demonstrated that nine (36%) of the 25 normal HbA2 beta-thalassaemia heterozygotes were in fact Corfu delta beta thalassaemia heterozygotes and of the 23 patients, two were Corfu delta beta thalassaemia homozygotes and five compound heterozygotes for Corfu delta beta thalassaemia and another beta-thalassaemia defect. Detailed haematological analysis demonstrated that: the Corfu delta beta thalassaemia mutation does not completely abolish the expression of the beta-globin gene; the HbA2 levels are slightly lower (P less than 0.01) and the HbF levels slightly higher (P less than 0.01) in Corfu delta beta thalassaemia heterozygotes compared to beta-thalassaemia heterozygotes with the normal HbA2-type 2 phenotype who do not have the Corfu delta beta chromosome.
authors.affiliation: First Department of Pediatrics, Athens University, St Sophie's Children's Hospital, Greece.
authors.forename: J
authors.initials: J
authors.lastname: Traeger-Synodinos
authors.forename: M
authors.initials: M
authors.lastname: Tzetis
authors.forename: E
authors.initials: E
authors.lastname: Kanavakis
authors.forename: A
authors.initials: A
authors.lastname: Metaxotou-Mavromati
authors.forename: C
authors.initials: C
authors.lastname: Kattamis
mesh_terms: D002872:Chromosome Deletion; D005319:Fetal Hemoglobin / Q000032:analysis; D015870:Gene Expression / Q000235:genetics; D005914:Globins / Q000235:genetics*; D006443:Hemoglobin A2 / Q000032:analysis; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D015995:Prevalence; D013789:Thalassemia / Q000097:blood / Q000453:epidemiology / Q000235:genetics*
chemical_list: D005914:Globins; D006443:Hemoglobin A2; D005319:Fetal Hemoglobin