Skip to main content

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