Table 7 ⍺- and β-globin genotypes identified in Thai and migrant cohorts in Chonburi, Thailand
Disease Category | Genotype | Migrants | |||||||
|---|---|---|---|---|---|---|---|---|---|
Thai (N = 1232) | Myanmar (N = 121) | Cambodian (N = 156) | Combined (N = 277) | ||||||
N | % | N | % | N | % | N | % | ||
Carriers of ⍺-globin variant | -⍺3.7/⍺⍺ | 126 | 10.2 | 34 | 28.1 | 30 | 19.2 | 64 | 23.1 |
-⍺4.2/⍺⍺ | 13 | 1.1 | 1 | 0.8 | 0 | 0 | 1 | 0.4 | |
-⍺3.7/−⍺3.7 | 4 | 0.3 | 2 | 1.7 | 1 | 0.6 | 3 | 1.1 | |
-⍺3.7/−⍺4.2 | 1 | 0.1 | 0 | 0 | 1 | 0.6 | 1 | 0.4 | |
-⍺3.7/⍺CS⍺ | 8 | 0.6 | 0 | 0 | 0 | 0 | 0 | 0 | |
- -SEA/⍺⍺ | 34 | 2.8 | 1 | 0.8 | 2 | 1.3 | 3 | 1.1 | |
⍺CS⍺/⍺⍺ | 35 | 2.8 | 0 | 0 | 0 | 0 | 0 | 0 | |
⍺PS⍺/⍺⍺ | 1 | 0.1 | 0 | 0 | 0 | 0 | 0 | 0 | |
⍺QZ⍺/⍺⍺ | 1 | 0.1 | 0 | 0 | 0 | 0 | 0 | 0 | |
Total | 223 | 18.1 | 38 | 31.4 | 34 | 21.8 | 72 | 26.0 | |
Carriers of β-globin variant | βE/β | 186 | 15.1 | 10 | 8.3 | 29 | 18.6 | 39 | 14.1 |
βD/β | 3 | 0.2 | 0 | 0 | 0 | 0 | 0 | 0 | |
βIVSI-1/β | 1 | 0.1 | 1 | 0.8 | 1 | 0.6 | 2 | 0.7 | |
βIVSII-654/β | 1 | 0.1 | 0 | 0 | 0 | 0 | 0 | 0 | |
βCD17/β | 5 | 0.4 | 0 | 0 | 0 | 0 | 0 | 0 | |
βCD71/72/β | 1 | 0.1 | 1 | 0.8 | 0 | 0 | 1 | 0.4 | |
βCD41/42/β | 1 | 0.1 | 0 | 0 | 0 | 0 | 0 | 0 | |
βCD27/28/β | 1 | 0.1 | 0 | 0 | 0 | 0 | 0 | 0 | |
β−28/β | 1 | 0.1 | 0 | 0 | 0 | 0 | 0 | 0 | |
β-3.48/β | 2 | 0.2 | 1 | 0.8 | 0 | 0 | 1 | 0.4 | |
Total | 202 | 16.4 | 13 | 10.7 | 30 | 19.2 | 43 | 15.5 | |
Double heterozygous carriers | -⍺3.7/⍺⍺ + βE/β | 28 | 2.3 | 2 | 1.7 | 18 | 11.5 | 20 | 7.2 |
-⍺4.2/⍺⍺ + βE/β | 6 | 0.5 | 0 | 0 | 0 | 0 | 0 | 0 | |
-⍺3.7/−⍺3.7 + βE/β | 5 | 0.4 | 0 | 0 | 2 | 1.3 | 2 | 0.7 | |
- -SEA/⍺⍺ + βE/β | 8 | 0.6 | 0 | 0 | 1 | 0.6 | 1 | 0.4 | |
- -THAI/⍺⍺ + βE/β | 0 | 0 | 0 | 0 | 1 | 0.6 | 1 | 0.4 | |
⍺CS⍺/⍺⍺ + βE/β | 5 | 0.4 | 0 | 0 | 0 | 0 | 0 | 0 | |
⍺PS⍺/⍺⍺ + βE/β | 0 | 0 | 0 | 0 | 1 | 0.6 | 1 | 0.4 | |
-⍺3.7/⍺⍺ + βD/β | 1 | 0.1 | 0 | 0 | 0 | 0 | 0 | 0 | |
-⍺3.7/⍺⍺ + βCD41/42/β | 1 | 0.1 | 0 | 0 | 0 | 0 | 0 | 0 | |
-⍺3.7/⍺⍺ + βCD35/β | 1 | 0.1 | 0 | 0 | 0 | 0 | 0 | 0 | |
-⍺3.7/⍺⍺ + β−28/β | 1 | 0.1 | 0 | 0 | 0 | 0 | 0 | 0 | |
-⍺3.7/⍺⍺ + βIVSI-1/β | 0 | 0 | 2 | 0.8 | 0 | 0 | 2 | 0.7 | |
-⍺3.7/⍺⍺ + βCD110/β a | 0 | 0 | 1 | 0.8 | 0 | 0 | 1 | 0.4 | |
⍺CS⍺/⍺⍺ + βIVSI-1/β | 1 | 0.1 | 0 | 0 | 0 | 0 | 0 | 0 | |
Total | 57 | 4.6 | 5 | 4.1 | 23 | 14.7 | 28 | 10.1 | |
Homozygous Hb E (with/without ⍺-thalassemia) | βE/βE | 25 | 2.0 | 0 | 0 | 3 | 0.2 | 3 | 1.1 |
-⍺3.7/⍺⍺ + βE/βE | 4 | 0.3 | 1 | 0.1 | 1 | 0.1 | 2 | 0.7 | |
-⍺3.7/−⍺3.7 + βE/βE | 1 | 0.1 | 0 | 0 | 0 | 0 | 0 | 0 | |
⍺CS⍺/⍺⍺ + βE/βE | 3 | 0.2 | 0 | 0 | 0 | 0 | 0 | 0 | |
Total | 33 | 2.7 | 1 | 0.8 | 4 | 2.6 | 5 | 1.8 | |
Hb H disease (with/without ⍺-thalassemia) | - -SEA/−⍺3.7 | 6 | 0.5 | 0 | 0 | 0 | 0 | 0 | 0 |
- -SEA/⍺CS⍺ | 3 | 0.2 | 0 | 0 | 0 | 0 | 0 | 0 | |
- -SEA/⍺CS⍺ + βE/β | 1 | 0.1 | 0 | 0 | 0 | 0 | 0 | 0 | |
- -SEA/⍺WM⍺ + βE/β | 1 | 0.1 | 0 | 0 | 0 | 0 | 0 | 0 | |
Total | 11 | 0.9 | 0 | 0 | 0 | 0 | 0 | 0 | |
Compound heterozygous β-thalassemia | βCD41/42/βE | 1 | 0.1 | 0 | 0 | 0 | 0 | 0 | 0 |
Total | 1 | 0.1 | 0 | 0 | 0 | 0 | 0 | 0 | |
Other ⍺-thalassemia diseases | ⍺CS⍺/⍺CS⍺ | 1 | 0.1 | 0 | 0 | 0 | 0 | 0 | 0 |
⍺CS⍺/⍺PS⍺ + βE/β | 1 | 0.1 | 0 | 0 | 0 | 0 | 0 | 0 | |
⍺ triplication | 5 | 0.4 | NT | NT | NT | NT | NT | NT | |
⍺ triplication + βE/β | 6 | 0.5 | NT | NT | NT | NT | NT | NT | |
Total | 13 | 1.1 | 0 | 0 | 0 | 0 | 0 | 0 | |
Any thalassemia carrier | Total | 540 | 43.8 | 57 | 47.1 | 91 | 58.3 | 148 | 53.4 |