Table 1 α-Globin genotypes in the study population.
From: Detection of maternal carriers of common α-thalassemia deletions from cell-free DNA
α-Globin genotypes | Phenotypes | No. of cases | Frequency (%) |
|---|---|---|---|
Common Genotypes | 68,815 | 99.898 | |
αα/αα | Normal | 63,541 | 92.242 |
(αα/−−SEA) | α-Thalassemia trait | 2801 | 4.066 |
(−α3.7/αα) | α-Thalassemia silent carrier | 2021 | 2.934 |
(−α4.2/αα) | α-Thalassemia silent carrier | 452 | 0.656 |
Rare Genotypes | 70 | 0.102 | |
(−α3.7/−−SEA) | Hb H disease | 49 | 0.071 |
(αα/−−THAI) | α-Thalassemia trait | 8 | 0.012 |
(−α4.2/−−SEA) | Hb H disease | 7 | 0.010 |
(−α3.7/−α4.2) | α-Thalassemia trait | 6 | 0.009 |
