Table 1.
Thirty Common and Rare HBB Mutations of Patients with β-Thalassemia and Carriers from the Siriraj-Thalassemia Program Project, Faculty of Medicine Siriraj Hospital, Mahidol University during 2003–2004
| Common HBB mutations (13) |
HBB mutations causing abnormal Hb (10) |
Rare HBB mutations (7) |
|||
|---|---|---|---|---|---|
| Common name | HGVS nomenclature | Common name | HGVS nomenclature | Common name | HGVS nomenclature |
| CD26G>A (Hb E) | c.79G>A* | CD147+AC (Hb Tak) | c.441_442insAC*†‡ | CD43G>T | c.130G>T* |
| CD41/42-TTCT | c.124_127delTTCT*† | CD126T>G (Hb Dhonburi) | c.380T>G* | CD123/125 (−8 bp) | c.370_377delACC CCACC† |
| CD17A>T | c.52A>T*†‡ | CD136G>A (Hb Hope) | c.410G>A* | −87C>A | c.−137C>A† |
| −28A>G | c.−78A>G* | CD6G>A (Hb C) | c.19G>A*† | CD15-T | c.46delT† |
| IVS2#654C>T | c.316−197C>T* | CD56G>A (Hb J-Bangkok) | c.170G>A* | CD8/9+G | c.27_28insG† |
| IVS1#5G>C | c.92 + 5G>C* | CD83G>A (Hb Pyrgos) | c.251G>A* | CD27/28+C | c.84_85insC† |
| CD19A>G (Hb Malay) | c.59A>G* | CD6A>C (Hb G Makassar) | c.20A>C*† | CD41-C | c.126delC*† |
| CD71/72 + A | c.216_217insA* | CD6A>T (Hb S) | c.20A>T*†‡ | ||
| IVS1#1G>T | c.92 + 1G>T† | CD121G>C (Hb D Punjab) | c.364G>C* | ||
| −31A>G | c.−81A>G† | CD1T>C (Hb Raleigh) | c.5T>C† | ||
| −30T>C | c.−80T>C* | ||||
| CD35C>A | c.108C>A† | ||||
| CD0T>G | c.2T>G* | ||||
Each column is listed in order of decreasing frequency.
HGVS, Human Genome Variation Society.
*
HBB mutations detectable by Panel 1 Multiplex SBE.
†
HBB mutations detectable by Panel 2 Multiplex SBE.
‡
HBB mutations detectable by Panel 3 Multiplex VSET.