Publications by authors named "Emily Giannopoulou"
Article Synopsis
- - This study investigates how genetic variations in the MAP3K5 and PDE7B genes are linked to the severity of β-hemoglobin diseases and how these variations affect responses to hydroxyurea (HU) treatment in patients.
- - Researchers genotyped patients with β-thalassemia and sickle cell disease, comparing their genetic data with healthy controls to identify associations between specific gene variants and disease characteristics or treatment outcomes.
- - Findings revealed that certain variations in the MAP3K5 gene correlate with lower fetal hemoglobin levels and more severe disease, and that these variants also play a role in how well patients respond to HU treatment.
The rs2071348 (g.5264146A>C) polymorphism on the HBB pseudogene, namely HBBP1, previously emerged as a variant significantly associated with a milder disease phenotype in Asian β(0)-thalassemia/hemoglobin (Hb) E (β(0)-thal/Hb E [β26(B8)Glu→Lys, GAG>AAG]) patients. In this study, we aimed to explore the possible association of rs2071348 with β-thalassemia (β-thal) disease severity in a group of β-thal major (β-TM) patients (severe phenotype) and β-thal intermedia (β-TI) patients (mild phenotype) of Hellenic origin and compare the results with normal (non thalassemic) individuals of the same origin.
View Article and Find Full Text PDF