Table 1. Distribution of thalassemia genotypes in 1174 cases.
Groups | Types | Genotypes | Number of cases (n) | Proportion (%) |
---|---|---|---|---|
Static α-thalassemia | Deletion | -α3.7/αα | 72 | 11.67 |
-α4.2/αα | 40 | 6.48 | ||
Non-deletion type 1 | αCSα/αα | 57 | 9.24 | |
αQSα/αα | 7 | 1.13 | ||
Non-deletion type 2 | αWSα/αα | 13 | 2.11 | |
Mild α-thalassemia | Deletion | —SEA/aa | 365 | 59.16 |
-α3.7/-α3.7 | 8 | 1.30 | ||
-α4.2/-α4.2 | 1 | 0.16 | ||
-α3.7/-α4.2 | 1 | 0.16 | ||
Non-deletion | -α3.7/αCSα | 3 | 0.49 | |
αCSα/αQSα | 3 | 0.49 | ||
αCSα/αCSα | 2 | 0.32 | ||
Intermediate α-thalassemia | Deletion | —SEA/-α3.7 | 23 | 3.73 |
—SEA/-α4.2 | 5 | 0.81 | ||
Non-deletion | —SEA/αCSα | 16 | 2.59 | |
—SEA/αWSα | 1 | 0.16 | ||
Mild β-thalassemia | β+/βN | βIVS-II-654/βN | 72 | 14.06 |
βE/βN | 16 | 3.13 | ||
β-28/βN | 5 | 0.98 | ||
β-29/βN | 3 | 0.59 | ||
βCap/βN | 2 | 0.39 | ||
β0/βN | βCD17/βN | 211 | 41.21 | |
βCD41-42/βN | 166 | 32.42 | ||
βCD71-72/βN | 7 | 1.37 | ||
βCD43/βN | 6 | 1.17 | ||
βCD27-28/βN | 2 | 0.39 | ||
βCD14-15/βN | 1 | 0.20 | ||
Intermediate β-thalassemia | β+/β+ | β-28/β-28 | 2 | 0.39 |
Severe β-thalassemia | β+/β0 | βCD17/βE | 5 | 0.98 |
βCD41-42/β-28 | 2 | 0.39 | ||
β-29/βCD17 | 1 | 0.20 | ||
β-29/βCD27-28 | 1 | 0.20 | ||
βCD41-42/βE | 2 | 0.39 | ||
β0/β0 | βCD17/βCD17 | 3 | 0.59 | |
βCD41-42/βCD17 | 3 | 0.59 | ||
βCD41-42/βCD41-42 | 1 | 0.20 | ||
βCD41-42/βCD27-28 | 1 | 0.20 | ||
Coinheritance of static α-thalassemia<br>and mild β-thalassemia | -α3.7/αα; βCD17/βN | 12 | 26.67 | |
-α4.2/αα; βCD41-42/βN | 6 | 13.33 | ||
αCS/αα; βCD17/βN | 4 | 8.89 | ||
-α3.7/αα; βCD41-42/βN | 3 | 6.67 | ||
-α3.7/αα; βIVS-II-654/βN | 2 | 4.44 | ||
-α4.2/αα; βCD17/βN | 3 | 6.67 | ||
αQS/αα; βCD41-42/βN | 1 | 2.22 | ||
-α3.7/αα; βE/βN | 1 | 2.22 | ||
Coinheritance of mild α-thalassemia<br>and mild β-thalassemia | —SEA/αα; βCD17/βN | 3 | 6.67 | |
—SEA/αα; βCD41-42/βN | 4 | 8.89 | ||
—SEA/αα; βIVS-II-654/βN | 1 | 2.22 | ||
-α3.7/-α3.7; βCD17/βN | 1 | 2.22 | ||
Coinheritance of intermediate<br>α-thalassemia and mild β-thalassemia | —SEA/αCSα; βCD17/βN | 2 | 4.44 | |
—SEAαCSα; βCD41-42/βN | 1 | 2.22 | ||
Coinheritance of intermediate<br>α-thalassemia and severe β-thalassemia | —SEA/αCSα; βCD17/βCD17 | 1 | 2.22 | |
Total | 1174 | 100 |