title: The effect of the beta thalassemia mutation on the clinical severity of the sickle beta thalassemia syndrome.
abstract: In this study, we have defined the beta thalassemia mutation and characterized the beta globin haplotype and the alpha globin gene arrangement in a group of patients of Sicilian descent with beta (s)/beta thalassemia. We found that those patients carrying a beta(+) thalassemia mutation associated with a moderate reduction of beta chain synthesis (beta(+) IVS-1 nt 6) have normal or reduced Hb levels and mild to moderate clinical manifestations, as defined by the number of hospital admission and sickle cell crises per year. Those patients carrying a beta(+) thalassemia mutation associated with a severe reduction of beta chain synthesis (beta(+) IVS-1 nt 110) have a disease of moderate severity. In those carrying a beta(0) thalassemia gene the disease was clinically very heterogeneous, ranging in severity from mild to severe with no difference related to the type of mutation [beta(0) 39, beta(0) IVS-1 nt 1, beta(0) IVS-2 nt 1, beta(0) 6 (-1bp)]. In this last group of patients part of the clinical variability may be attributed to the HbF levels, which were higher in those with mild to moderate clinical severity.
authors.forename: L
authors.initials: L
authors.lastname: Perseu
authors.forename: M S
authors.initials: MS
authors.lastname: Ristaldi
authors.forename: S P
authors.initials: SP
authors.lastname: Dibenedetto
authors.forename: R
authors.initials: R
authors.lastname: Testa
authors.forename: G
authors.initials: G
authors.lastname: Schilirò
authors.forename: M
authors.initials: M
authors.lastname: Pirastu
authors.forename: A
authors.initials: A
authors.lastname: Cao
mesh_terms: D000755:Anemia, Sickle Cell / Q000235:genetics*; D005914:Globins / Q000235:genetics; D006454:Hemoglobins / Q000032:analysis; D006801:Humans; D009154:Mutation; D013789:Thalassemia / Q000235:genetics*
chemical_list: D006454:Hemoglobins; D005914:Globins