Table 3.
Genetic Findings of β thalassemia intermedia cohort in Sri Lanka
| Genetic findings | β thalassemia intermedia disease severity | ||
|---|---|---|---|
| Mild | Moderate | Severe | |
| β thalassemia heterozygotes (n = 33) | |||
|
β thalassemia heterozygote and excess α globin chains β thalassemia heterozygote and with membranopathies β thalassemia heterozygote (Unexplained)* |
17 1 |
8 2 1 |
3 1 |
| Total | 18 | 11 | 4 |
| β thalassemia homozygotes (n = 17) | |||
|
β thalassemia homozygote and α globin gene deletions β thalassemia homozygote with mild β alleles β thalassemia homozygote with Hb F modifiers β thalassemia homozygote HPFH type 3 deletion |
1 5 2 |
1 |
7 1 |
| Total | 8 | 1 | 8 |
*Unable to explain genetic mechanism for the phenotypic diversity from the available genetic data.