1 |
Sicilian(-13,337bp) |
δβ0 |
NG_000007.3:g.64336_77738d el13403 |
31(2.01) |
|
|
|
(1.26) |
|
|
|
|
|
2 |
CD36/37(-T) |
β0 |
HBB:c.112delT |
30 (1.94) |
(0.8) |
(14) |
(19.7) |
(5.52) |
|
|
(0.23) |
(0.19) |
(1.18) |
3 |
CD15(TGG>TGA) |
β0 |
HBB:c.47G>A |
22 (1.42) |
|
(2.1) |
|
|
3 (3.99) |
(4.6) |
|
|
|
4 |
CD22/23/24-7 bp(-AAGTTGG) |
β0 |
HBB:c.68_74delAAGTTGG |
17 (1.1) |
(3) |
(0.64) |
(1.4) |
(0.95) |
|
|
(0.29) |
(0.19) |
(0.29) |
5 |
IVS-II-745 (C>G) |
β+ |
HBB:c.316-106C>G |
15 (0.97) |
(2.3) |
(1.3) |
(4.8) |
(1) |
|
|
(3.87) |
(1.34) |
(0.88) |
6 |
IVS-I-128( T>G) |
β+ |
HBB:c.93-3T>G |
12 (0.78) |
|
(1) |
|
|
4 (5.32) |
|
|
|
|
7 |
CAP+20 (G>A) |
β+ |
HBB:c.-31C>T |
12 (0.78) |
|
(1) |
|
- |
|
|
|
|
|
8 |
25bp del |
β0 |
HBB:c.93-22_95del |
11(0.71) |
(1.20) |
(5.6) |
(4.8) |
(2.23) |
|
|
|
(0.96) |
|
9 |
(-28) TATA Box |
β+ |
HBB:c.-78A>G |
10 (0.65) |
(0.5) |
(0.36) |
|
|
1 (1.33) |
|
|
|
|
10 |
CAP+22 (G>A) |
β+ |
HBB:c.-29G>A |
8 (0.52) |
|
(0.8) |
|
|
1 (1.33) |
|
|
|
|
11 |
IVS-I (-1) or CD 30 (G>A) |
β0 |
HBB:c.92G>A |
8 (0.52) |
(7.7) |
(0.68) |
|
(1.92) |
|
(2.8) |
|
(0.38) |
(0.59) |
12 |
(-88) C>A |
β+ |
HBB:c.-138C>A |
8 (0.52) |
(0.3) |
|
|
(0.9) |
|
|
|
|
|
13 |
IVS-I-130(G>C) |
β0 |
HBB:c.93-1G>C |
7 (0.45) |
(1.6) |
(0.8) |
|
|
11(14.6) |
|
|
|
|
14 |
CD82/83 (-G) |
β0 |
HBB:c.251delG |
6 (0.38) |
- |
(2.1) |
|
- |
9(11.97) |
|
|
|
|
15 |
CD35(C>A) |
β0 |
HBB:c.108C>A |
6 (0.39) |
- |
- |
|
|
|
|
|
|
|
16 |
IVS-II-848(C>A) |
β+ |
HBB:c.316-3C>A |
6 (0.39) |
- |
(0.82) |
|
- |
|
|
|
|
|
17 |
-87(C>T) |
β+ |
HBB:c.-137C>T |
5 (0.32) |
|
|
|
|
1(1.33) |
|
|
|
|
18 |
CD29(C>T) |
β+ |
HBB:c.90C>T |
5 (0.32) |
- |
- |
|
|
|
|
|
|
|
19 |
CD25/26(+T) |
β0 |
HBB:c.78_79insT |
5 (0.32) |
- |
- |
|
(0.3) |
2(2.66) |
|
|
|
|
20 |
(-87)C>G |
β+ |
HBB:c.-137C>G |
5 (0.32) |
- |
- |
|
- |
|
|
|
|
|
21 |
(-101)C>T |
β++ (silent) |
HBB:c.-151C>T |
4 (0.26) |
- |
(0.64) |
|
- |
2(2.66) |
|
|
|
|
22 |
CD41/42(-CTTT) |
β0 |
HBB:c.126_129delCTTT |
4 (0.26) |
- |
(0.36) |
|
(0.3) |
4(5.32) |
|
|
|
|
23 |
CAP+1548 (A>G) |
unknown |
HBB:c.*74 (A>G) |
4 (0.26) |
- |
- |
|
- |
|
|
|
|
|
24 |
(-86) C>G |
β+ |
HBB:c.-136C>G |
3 (0.19) |
- |
- |
|
(2.5) |
|
|
|
|
|
25 |
Hb Lepore |
β0 |
NG_000007.3:g.63564_70978del |
3 (0.19) |
- |
- |
|
(9.38) |
|
|
|
|
|
26 |
CAP+1 (A>C) |
β++ (silent) |
HBB:c.-50A>C |
3 (0.19) |
|
|
|
- |
|
(3) |
|
|
|
27 |
CD126 (GTG>GGG) |
β++ (silent) |
Hb Neapolis |
2 (0.13) |
|
|
|
- |
|
|
|
|
|
28 |
CD69 (GGT>AGT) Hb City of Hope |
silent Hb variant |
HBB: c.208G>A |
2 (0.13) |
|
|
|
|
|
|
|
|
|
29 |
CAP + 1570 T>C |
β++ (silent) |
HBB:c.*96T>C |
2 (0.13) |
(0.3) |
|
|
|
|
|
|
|
|
30 |
CD16(-C) |
β0 |
HBB:c.51delC |
2 (0.13) |
(0.3) |
|
(0.9) |
(2.5) |
7(9.31) |
(0.7) |
|
|
|
31 |
Deletion from HBD exon 1 to HBB promoter |
β0 |
|
2 (0.13) |
|
|
|
|
|
|
|
|
|
32 |
619 bp deletion |
β0 |
NG_000007.3: g.71609_72227del619 |
1 (0.06) |
|
|
|
|
|
5.3 |
|
|
|
33 |
Deletion from up HBBP1-Exon3 HBBP1 and up HBB-0.5Kb down HBB |
β0 |
|
1(0.06) |
|
|
|
|
|
|
|
|
|
34 |
CAP+8 C>A |
β++ (silent) |
HBB:c.-43C>T |
1 (0.06) |
|
|
|
|
|
|
|
|
|
35 |
CD37(G>A) |
β0 |
HBB:c.114G>A |
1 (0.06) |
0.5 |
|
|
|
|
|
|
|
|
36 |
CD6(-A) |
β0 |
HBB:c.20delA |
1 (0.06) |
|
|
|
|
|
|
|
|
|
37 |
IVS-I-2 (T>C) |
β0 |
HBB:c.92+2T>C |
1 (0.06) |
2 |
|
|
|
1(1.33) |
|
|
|
|
38 |
IVS-II-705 T>G |
β+ |
HBB:c.316-146T>G |
1 (0.06) |
|
|
|
|
|
|
|
|
|
39 |
IVSII-772 (G>A) |
unknown |
HBB:c.316-78A>G |
1 (0.06) |
|
|
|
|
|
|
|
|
|
40 |
Unknown |
|
|
2 (0.13) |
40 (10.3) |
|
|
10 (13.3) |
|
|
|
|
|
|
Total |
|
|
305 (19.79) |
|
|
|
|
|
|
|
|
|