Genotype | Common name | Sequencing or Gap-PCR | Sample set 1 | Sample set 2 | Primer set used for detection | Phenotype |
---|---|---|---|---|---|---|
(n = 410) | (n = 342) | (n = 68) | ||||
1. HBB:c.-151C > T | -101 C > T | 2 | 1 | 1a | H1 | β+ thalassaemia trait |
2. HBB:c.-138C > A | -88 C > A | 5 | 3 | 2a | H1 | β+ thalassaemia trait |
3. HBB:c.-138C > A; HBB:c.92 + 5G > C | -88 C > A; IVS1-5 G > C | 1 | 1 | 0 | H1 + H3 | β thalassaemia major |
4. HBB:c.-121C > T | -71C > T | 1 | 1 | 0 | H1 | β+ thalassaemia trait |
5. HBB:c.17_18delCTb | Codon 5-CT | 13 | 12 | 1 | H2 | βo thalassaemia trait |
6. HBB:c.17_18delCT; HBB:c.92 + 5G > Cb | Codon 5 -CT; IVS1-5 G > C | 1 | 1 | 0 | H2 + H3 | β thalassaemia major |
7. HBB:c.19G > A | Hb C | 7 | 5 | 2 | H2 | Hb C trait |
8. HBB:c.19G > A; HBB:c.20A > T | Hb C; Hb S | 1 | 0 | 1a | H2 | Hb SC disease |
9. HBB:c.20A > T heterozygoteb | Hb S | 24 | 21 | 3 | H2 | Hb S trait |
10. HBB:c.20A > T homozygoteb | Hb S | 18 | 18 | 0 | H2 | Hb S disease |
11. HBB:c.20A > T;HBB:c.92 + 5G > Cb | Hb S; IVS1-5 G > C | 3 | 3 | 0 | H2 + H3 | Hb S disease |
12. HBB:c.20A > T; HBB:c.83-22_95delb | Hb S; 25 bp deletion | 2 | 2 | 0 | H2 + H4 | Hb S disease |
13. HBB:c.20A > T; HBB:c.176C > A | Hb S; Hb Sheffield | 1 | 1 | 0 | H2 + H5 | Hb S + Hb Sheffield |
14. HBB:c.20A > T; HBB:c.364G > C | Hb S; Hb D | 2 | 2 | 0 | H2 + H7 | Hb SD disease |
15. HBB:c.25_26delAAb | Codon 8 -AA | 3 | 3 | 0 | H2 | βo thalassaemia trait |
16. HBB:c.27_28insGb | Codon 8/9 + G | 5 | 4 | 1a | H2 | βo thalassaemia trait |
17. HBB:c.33C > A; HBB:c.51delC | Codon 10 C > A; Codon 16 -C | 1 | 1 | 0 | H2 + H3 | β thalassaemia major |
18. HBB:c.47G > Ab | Codon 15 G > A | 6 | 4 | 2a | H2 | βo thalassaemia trait |
19. HBB:c.67G > T | Codon 22 G > T | 2 | 2 | 0 | H3 | βo thalassaemia trait |
20. HBB:c.79G > A | Hb E | 7 | 5 | 2 | H3 | Hb E trait |
21. HBB:c.79G > A; HBB:c.126_129delCTTT | Hb E; Codon 41/42 -CTTT | 2 | 1 | 1 | H3 + H4 + H5 | Hb E/βo thalassaemia |
22. HBB:c.92G > C; HBB:c.-92C > G | Hb Monroe | 3 | 1 | 2a | H1 + H3 | βo thalassaemia trait |
23. HBB:c.92 + 1G > Ab | IVS1-1 G > A | 16 | 12 | 4 | H3 | βo thalassaemia trait |
24. HBB:c.92 + 5G > Cb | IVS1-5 G > C | 96 | 82 | 14 | H3 | β+ thalassaemia trait |
25. HBB:c.92 + 6 T > Cb | IVS1-6 T > C | 7 | 6 | 1a | H3 | β+ thalassaemia trait |
26. HBB:c.92 + 6 T > C; HBB:c.93-21_96delb | IVS1-6 T > C; 25 bp deletion | 1 | 1 | 0 | H3 + H4 | β thalassaemia major |
27. HBB:c.93-21_96delb | 25 bp deletion | 35 | 27 | 8 | H4 | βo thalassaemia trait |
28. HBB:c.93-21G > Ab | IVS1-110 G > A | 18 | 11 | 7 | H4 | β+ thalassaemia trait |
29. HBB:c.112delTb | Codon 36/37 -T | 1 | 1 | 0 | H4 | βo thalassaemia trait |
30. HBB:c.114G > A | Codon 37 G > A | 1 | 1 | 0 | H4 | βo thalassaemia trait |
31. HBB:c.118C > Tb | Codon 39 C > T | 16 | 13 | 3 | H4 | βo thalassaemia trait |
32. HBB:c.126_129delCTTTb | Codon 41/42 -CTTT | 2 | 2 | 0 | H4 + H5 | βo thalassaemia trait |
33. HBB:c.135delCb | Codon 44 -C | 14 | 10 | 4 | H4 + H5 | βo thalassaemia trait |
34. HBB:c.140G > A | Hb K-Ibadan | 1 | 1 | 0 | H4 + H5 | Hb K-Ibadan |
35. HBB:c.157G > C | Hb Summer Hill | 1 | 1 | 0 | H5 | Hb Summer Hill |
36. HBB:c.251delG | Codon 82/83 -G | 6 | 6 | 0 | H6 | βo thalassaemia trait |
37. HBB:c.315 + 1G > Ab | IVS2-1 G > A | 14 | 10 | 4 | H6 | βo thalassaemia trait |
38. HBB:c.316-106G > Cb | IVS2-745 G > C | 1 | 1 | 0 | H8 | β+ thalassaemia trait |
39. HBB:c.316-3C > A | IVS2-848 C > A | 1 | 1 | 0 | H8 + H9 | β+ thalassaemia trait |
40. HBB:c.321_322insG | Codon 105/106 + G | 1 | 1 | 0 | H8 + H9 | βo thalassaemia trait |
41. HBB:c.364G > C | Hb D Los Angeles | 14 | 14 | 0 | H9 | Hb D trait |
42. HBB:c.316-149_*342delinsAAGTAGA | 619 bp deletion (hetero) | 1 | 1 | 0 | G2 | βo thalassaemia trait |
43. HBB:c.316-149_*342delinsAAGTAGA | 619 bp deletion (homo) | 1 | 1 | 0 | G2 | β thalassaemia major |
44. NG_000007.3:g.66258_184734del118477 | Filipino deletion | 3 | 2 | 1 | G1 + G2 | βo thalassaemia trait |
False positive by HRM | Â | - | 1 | 0 | 1 | Not applicable |
No mutation detected | Â | 49 | 44 | 4 | - | Not applicable |