title: Beta-thalassemia intermedia associated with homozygosity for the -87 (C-->T) mutation in a Turkish family.
abstract: We report on two siblings with beta+-thalassemia intermedia. Molecular studies of the beta-globin gene indicated that the patients are homozygous for the -87 (C-->T) mutation. This genotype has not been previously described. Homozygosity for the -87 (C-->T) mutation produces a mild form of beta+-thalassemia associated with moderate Hb F elevation (26-38%) and highly elevated Hb A2 (10-8.6%) levels, respectively. Hematological parameters of homozygous -87 (C-->G) and -87 (C-->A) mutations, and compound heterozygous patients with either C-->T, C-->G, or C-->A at -87 and one of the severe beta+- or beta0-thalassemia mutations, are given for comparison.
authors.affiliation: Department of Pediatric Hematology, Hacettepe University, Faculty of Medicine, Ihsan Dogramaci Children's Hospital, Ankara, Turkey.
authors.forename: F
authors.initials: F
authors.lastname: Gümrük
authors.forename: H
authors.initials: H
authors.lastname: Mergen
authors.forename: R
authors.initials: R
authors.lastname: Oner
authors.forename: O
authors.initials: O
authors.lastname: Ozcebe
authors.forename: N
authors.initials: N
authors.lastname: Sayinalp
authors.forename: C
authors.initials: C
authors.lastname: Oner
authors.forename: A
authors.initials: A
authors.lastname: Gürgey
authors.forename: C
authors.initials: C
authors.lastname: Altay
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics; D001803:Blood Transfusion; D005192:Family Health; D005319:Fetal Hemoglobin / Q000032:analysis; D005914:Globins / Q000235:genetics; D006443:Hemoglobin A2 / Q000032:analysis; D006720:Homozygote; D006801:Humans; D008297:Male; D009679:Nuclear Family; D017354:Point Mutation / Q000235:genetics*; D017422:Sequence Analysis, DNA; D013156:Splenectomy; D014421:Turkey / Q000453:epidemiology; D017086:beta-Thalassemia / Q000235:genetics*
chemical_list: D005914:Globins; D006443:Hemoglobin A2; D005319:Fetal Hemoglobin