From: Molecular characterization of β-thalassemia intermedia in the West Bank, Palestine
Mutation | Nt. Substitution | Type of mutation | HGVS nomenclature | Allele frequency (%)^{a} |
---|---|---|---|---|
IVS-I-6 | T > C | β^{+} | HBB:c.92 + 6 T > C | 76.5 |
IVS-I-1 | G > A | β^{0} | HBB:c.92 + 1G > A | 2.0 |
IVS-I-110 | G > A | β^{+} | HBB:c.93-21G > A | 7.8 |
Codon 37 | TGG > TGA | β^{0} | HBB:c.114G > A | 3.0 |
IVS-II-1 | G > A | β^{0} | HBB:c.315 + 1G > A | 6.9 |
IVS-II-848 | C > A | β^{+} | HBB:c.316-3C > A | 1.0 |
Beta −101 | C > T | β^{++} | HBB:c.-151C > T | 2.0 |