Table 2 Characteristics of the study sample by disease severity (N = 515)
From: Genetic modifiers of Hb E/β0 thalassemia identified by a two-stage genome-wide association study
Variable | Mild | Severe |
|---|---|---|
Mean severity score (SD) | 2.1 (1.0) | 8.4 (0.8) |
Mean Hb, g/dL (SD) | 8.0 (1.4) | 6.0 (1.1) |
Mean HbF, % (SD) | 40.7 (11.9) | 31.1 (11.3) |
Mean HbE, % (SD) | 59.3 (11.9) | 68.8 (11.3) |
Mean HbE/HbF | 1.8 | 2.7 |
Mean age, years (SD) | 20 (14) | 14 (9) |
Female % | 61 | 45 |
β-Thal Mutation, % | ||
Codon 17 (A>T) | 23 | 25 |
Codon 41/42 (-TTCT) | 40 | 47 |
IVS II-654 (C>T) | 9 | 10 |
Hb Khon Kaen | 9 | 1 |
IVS I-5 (G>C) | 4 | 7 |
Codon 71/72 (+A) | 0.50 | 4 |
Beta Deletion | 4 | 1 |
Other | 11 | 5 |