Identification of β thalassemia mutations in 120 patients with Hb E-β thalassemia
β globin mutation . | No. . | % . |
|---|---|---|
| β0 or severe β+ thalassemias | ||
| Codon 41/42 (-TTCT) | 62 | 51.2 |
| Codon 17 (A/T) | 18 | 15.0 |
| IVSII-654 (C/T) | 18 | 15.0 |
| IVSI-5 (G/C) | 5 | 4.1 |
| CD 71/72 (+A) | 4 | 3.3 |
| IVSI-1 (G/T) | 3 | 2.5 |
| CD 35 (C/A) | 2 | 1.6 |
| CD 27/28 (+C) | 1 | 0.8 |
| CD 95 (+A) | 1 | 0.8 |
| Initiation codon (T/G) | 1 | 0.8 |
| Mild β+ thalassemias | ||
| −28 (A/G) | 1 | 0.8 |
| CD19 (A/G) | 2 | 1.6 |
| 3.48-kb deletion | 2 | 1.6 |
| Total | 120 | 100 |
β globin mutation . | No. . | % . |
|---|---|---|
| β0 or severe β+ thalassemias | ||
| Codon 41/42 (-TTCT) | 62 | 51.2 |
| Codon 17 (A/T) | 18 | 15.0 |
| IVSII-654 (C/T) | 18 | 15.0 |
| IVSI-5 (G/C) | 5 | 4.1 |
| CD 71/72 (+A) | 4 | 3.3 |
| IVSI-1 (G/T) | 3 | 2.5 |
| CD 35 (C/A) | 2 | 1.6 |
| CD 27/28 (+C) | 1 | 0.8 |
| CD 95 (+A) | 1 | 0.8 |
| Initiation codon (T/G) | 1 | 0.8 |
| Mild β+ thalassemias | ||
| −28 (A/G) | 1 | 0.8 |
| CD19 (A/G) | 2 | 1.6 |
| 3.48-kb deletion | 2 | 1.6 |
| Total | 120 | 100 |
Most mutations are β0 or severe β+ thalassemia (96%). An initiation codon mutation (ATG → AGG), originally identified in a Chinese patient with β thalassemia major, was found for the first time in Thailand in this study.