title: Severity of beta-thalassemia due to genotypes involving the IVS-I-6 (T-->C) mutation.
abstract: Among individuals of Mediterranean or Middle Eastern descent, the IVS-I-6 (T-->C) mutation is one of the most common causes of beta-thalassemia. In this report, we describe the clinical phenotypes of a group of beta-thalassemia patients who are compound heterozygotes for the relatively mild IVS-I-6 (T-->C) beta-thalassemia mutation and more severe beta(+)- or beta (0)-thalassemia mutations. Although most of these patients are transfusion-dependent, the requirement for regular transfusions generally occurred late in childhood. A correlation between concomitant alpha-thalassemia and a mild transfusion-independent phenotype is not apparent, indicating the involvement of other ameliorating determinants.
authors.affiliation: Provincial Hemoglobinopathy DNA Diagnostic Laboratory, McMaster University Medical Centre, Hamilton, Ontario, Canada.
authors.forename: J S
authors.initials: JS
authors.lastname: Waye
authors.forename: B
authors.initials: B
authors.lastname: Eng
authors.forename: M
authors.initials: M
authors.lastname: Patterson
authors.forename: P
authors.initials: P
authors.lastname: Wasi
authors.forename: D H
authors.initials: DH
authors.lastname: Chui
authors.forename: W H
authors.initials: WH
authors.lastname: Francombe
authors.forename: G D
authors.initials: GD
authors.lastname: Sher
authors.forename: N F
authors.initials: NF
authors.lastname: Olivieri
mesh_terms: D000328:Adult; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D005190:Family; D005260:Female; D005914:Globins / Q000235:genetics*; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008297:Male; D017354:Point Mutation; D017086:beta-Thalassemia / Q000453:epidemiology / Q000235:genetics*
chemical_list: D005914:Globins