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Table 1 Summary of our genotype analysis of β-type hemoglobinopathy patients of Hellenic origin and healthy (non-thalassemic) individuals

From: Whole transcriptome analysis of human erythropoietic cells during ontogenesis suggests a role of VEGFA gene as modulator of fetal hemoglobin and pharmacogenomic biomarker of treatment response to hydroxyurea in β-type hemoglobinopathy patients

Study population Genotype frequency (%)
rs3024997 (G>A) rs2146323 (C>A) rs10434 (A>G)
G/G A/A G/A C/C A/A C/A A/A G/G A/G
Healthy individuals 34 21 45 60 9 31 18 31 51
β-thalassemia major patients 26 16 58 51 3 46 21 33 46
NTDT patients 47 6 47 33 11 56 21 29 50
HU responders 26 16 58 43 10 48 26 26 48
HU non-responders 35 12 53 63 17 20 25 29 46
  1. The number of individuals per group (n) is indicated in parentheses per tagSNP: rs3024997 healthy individuals (n = 112), NTDT patients (n = 17), β-thalassemia major patients (n = 112), HU responders (n = 19), HU non-responders (n = 26); rs2146323 healthy individuals (n = 115), NTDT patients (n = 18), β-thalassemia major patients (n = 114), HU responders (n = 21), HU non-responders (n = 30); rs10434 healthy individuals (n = 72), NTDT patients (n = 14), β-thalassemia major patients (n = 105), HU responders (n = 19), HU non-responders (n = 28)
  2. HU hydroxyurea, NTDT non-transfusion-dependent thalassemia