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Table 6 Mutation spectrum of β-globin gene in the β-thalassemia and HbE carriers in Bangladeshi population

From: Nationwide carrier detection and molecular characterization of β-thalassemia and hemoglobin E variants in Bangladeshi population

SL No.Mutation PatternNumber of samples, n (%; 95% CI)
1c.79G > A (HbE)163 (73.42; 67.62–79.22)
2c.92 + 5G > C32 (14.41; 9.8–19.02)
3c.79G > A + c.79G > A8 (3.61; 1.16–6.06)
4c.92 + 130G > C01 (0.45; 0.43–1.33)
5c.151A > G a01 (0.45; 0.43–1.33)
6c.126_129delCTTT03 (1.35; 0.16–2.86)
7c.27_28insG02 (0.90; 0.34–2.14)
8c.47G > A03 (1.35; 0.16–2.86)
9c.79G > A + c.92 + 5G > C02 (0.90; 0.34–2.14)
  1. anovel mutation; not reported in Bangladeshi population and also globally [23]