Silent β-thalassemia: Transition Mutation of the β-globin Gene (Promoter nt-101 C T)

Introduction: Heterozygote β-thalassemia is called carrier or β-thalassemia trait (BTT). Carriers have no clinical symptoms but sometimes have a mild anemia. They can often be identified with MCV 80 fl, MCH 27 pg and HbA2 3.5 %. However, these tests are not enough to diagnose some unexpected beta-globin mutations in premarital or prenatal screening. Case Presentation: The mentioned case was one of the most common silent β-thalassemia mutations (promoter nt-101C T). Conclusion: It was the first report from Fars (Iran) and the second one from Iran. The case had normal hematologic indices and borderline hemoglobin A2 values that may be mistakenly interpreted as normal. The presented case showed that electrophoresis and PCR sequencing methods should be applied for screening thalassemia.