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

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

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

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)
HU hydroxyurea, NTDT non-transfusion-dependent thalassemia

ISSN: 1479-7364