β-Thalassemia Intermedia Associated with Homozygosity for the -87 (C→T) Mutation in a Turkish Family

Abstract

We report on two siblings with β⁺-thalassemia intermedia. Molecular studies of the β-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 β⁺-thalassemia associated with moderate Hb F elevation (26–38%) and highly elevated Hb A, (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 β⁺-or β°-thalassemia mutations, are given for comparison.