title: "Silent" β-thalassemia mutation (promoter nt-101 C > T) with increased hemoglobin A2.
abstract: One of the most common silent β-thalassemia mutations is the C > T substitution at position -101 within the distal CACCC box, which leads to a mild reduction in the expression level of the β-globin gene. Carriers of this mutation have a normal hematologic picture without microcytosis and borderline hemoglobin A2 values, and may be missed during screening. Co-occurrence of this mutation with one of the classical β-thalassemia mutations leads to β-thalassemia intermedia, and this is important for Mediterranean populations where β-thalassemia is frequent. Awareness of this mutation, which may have a heterogeneous clinical presentation, is required. We herein present the unusual hematologic findings of a Turkish family carrying this mutation.
authors.affiliation: Division of Pediatric Hematology, Department of Pediatrics, Gazi University, Faculty of Medicine, Ankara, Turkey.
authors.forename: Deniz
authors.initials: D
authors.lastname: Aslan
mesh_terms: D002648:Child; D002675:Child, Preschool; D005260:Female; D005914:Globins / Q000235:genetics*; D006443:Hemoglobin A2 / Q000378:metabolism*; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D011401:Promoter Regions, Genetic; D014421:Turkey; D017086:beta-Thalassemia / Q000175:diagnosis / Q000235:genetics*
chemical_list: D005914:Globins; D006443:Hemoglobin A2
keywords: Silent β-thalassemia mutation (promoter nt-101 C > T); Turkish family; increased hemoglobin A2