The Turkish Journal of Pediatrics 2016 , Vol 58 , Num 3
“Silent” β-thalassemia mutation (promoter nt-101 C > T) with increased hemoglobin A2
Deniz Aslan 1
1 Division of Pediatric Hematology, Department of Pediatrics, Gazi University, Faculty of Medicine, Ankara, Turkey DOI : 10.24953/turkjped.2016.03.013 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. Keywords : β-thalassemia mutation (promoter nt-101 C > T), increased hemoglobin A2, Turkish family
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