Table 4.
List of mutations that the HbA2 level among heterozygous carrier individuals were normal (1 to 3.5%). Also, mean and standard deviations of cell blood count (CBC) index from these individuals are shown.
| Mutation | n | RBC | MCV | MCH | HB | HbA2 | HbF |
|---|---|---|---|---|---|---|---|
| IVSII-1 G>A | 22 | 5.6 + 1.6 | 61.0 + 5.9 | 19.2 + 5.5 | 10.4 + 3.7 | 1.4 + 1.5 | 1.5 + 1.1 |
| .-101 C>T | 3 | 5.3 + 0.02 | 79.5 + 1.4 | 26.0 + 1.8 | 2.9 + 0.3 | 2.9 + 0.3 | 0.6 + 0.4 |
| .-87 | 1 | 4.41 | 87.1 | 26.8 | 11.8 | 2.1 | 0.9 |
| 3-UTR+1570 | 1 | 5.3 | 70.5 | 22.1 | 11.6 | 2.6 | |
| 5-UTR+22 | 13 | 5.3 + 0.6 | 69.3 + 14.8 | 23.3 + 2.0 | 11.8 + 3.9 | 2.8 + 0.4 | 0.7 + 0.5 |
| C82-83 | 1 | 4.94 | 64 | 18.8 | 9.3 | 2.7 | |
| CD101 | 1 | 6.11 | 79.5 | 24.5 | 15 | 3.2 | |
| CD123 | 1 | 4.7 | 79.6 | 25.7 | 12.1 | 3.4 | 1.6 |
| CD126 | 8 | 5 + 0.4 | 77.4 + 3.8 | 25.0 + 1.2 | 12.4 + 1.1 | 2.9 + 0.5 | 0.4 + 0.3 |
| CD15 | 1 | 5.73 | 68.4 | 25.2 | 12.1 | 2.4 | |
| CD22/23/24 | 2 | 5.2 + .02 | 64.6 + 8.8 | 20.4 + 2.3 | 11.2 + 0.5 | 1.6 + 2.3 | 1.3 + 0.3 |
| CD27 Knossos | 5 | 5.03 + 0.8 | 73.0 + 2.2 | 23.3 + 0.7 | 11.9 + 1.5 | 1.9 + 0.4 | 0.5 + 0.4 |
| CD30 | 2 | 5.1 + 1.1 | 65.9 + 2 | 20.5 + 0.2 | 11.9 + 1.6 | 3.1 + 0.4 | 0.4 + 0.5 |
| CD 5 | 1 | 5.6 | 57.9 | 19 | 10.6 | 2.6 | 0.5 |
| CD 60 | 1 | 4.6 | 82.4 | 28.2 | 12.8 | 3.2 | 0.8 |
| CD8 | 6 | 6.0 + 0.3 | 67.5 + 6.4 | 21.1 + 3.1 | 12.2 + 1.1 | 2.8 + 0.3 | 0.7 + 0.7 |
| IVSI-1 G>A | 2 | 5.1 + .1 | 75 + 6.2 | 22.5 + 3.6 | 2.7 + 0.14 | 2.7 + 0.1 | 0.7 + 0.1 |
| IVSI-128 | 1 | 5.67 | 72.4 | 23 | 13.8 | 3.4 | 1 |
| IVSI-129 | 1 | 5.37 | 76.5 | 23.9 | 12.7 | 3.5 | 0.1 |
| IVSI-130 | 2 | 5.3 + 1.0 | 64.5 + 9.1 | 18.3 + 2.5 | 10.6 + 0.5 | 2.3 | 0.6 |
| IVSI-5 | 4 | 5.0 +1.3 | 74.2 + 16.1 | 22.2 + 3.4 | 11 + 1.9 | 2.9 + 0.5 | 0.7 + 0.2 |
| IVSI-6 | 1 | 6.3 | 71.4 | 20.1 | 12.7 | 2.5 | 1.2 |
| IVSI-1 | 1 | 6.9 | 58 | 18 | 12.1 | 3.2 | 0.9 |
| IVSI-5 | 13 | 5.7 + 0.6 | 66.0 + 5.5 | 19.9 + 1.9 | 10.3 + 3.2 | 3.0 + 0.3 | 1.0 + 2.6 |
| IVSI-6 | 2 | 5.6 + 1.2 | 74.6 + 2.3 | 23.7 + 1.4 | 13.2 + 2.1 | 3.2 + 0.1 | 0.4 + 0.6 |
| IVSII-1 G>C | 2 | 5.5 + 1.7 | 69 + 7.1 | 21 + 4.2 | 11.3 + 1.6 | 3.2 + 0.3 | 2.2 + 0.1 |
| Asian-Indian | 6 | 5.6 + 0.8 | 71 + 1.6 | 23.3 + 1.0 | 13.3 + 1.7 | 2.6 + 0.8 | 6.4 + 9.4 |
| Sicilian | 6 | 5.9 + 0.6 | 70.1 + 6.1 | 21.5 + 2.3 | 12.8 + 1.6 | 2.5 + 0.2 | 6.9 + 5.2 |