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Analysis of differentially expressed genes in patients with sickle cell anaemia treated and not treated with hydroxyurea

Grant number: 14/24962-9
Support type:Scholarships in Brazil - Scientific Initiation
Effective date (Start): April 01, 2015
Effective date (End): June 30, 2016
Field of knowledge:Biological Sciences - Genetics - Human and Medical Genetics
Principal researcher:Anderson Ferreira da Cunha
Grantee:Fernanda Cristina Palombo
Home Institution: Centro de Ciências Biológicas e da Saúde (CCBS). Universidade Federal de São Carlos (UFSCAR). São Carlos , SP, Brazil


During normal ontogenetic development, changes occur in the expression of genes that synthesize globin chains, resulting in different types of human hemoglobin - major constituent of red blood cells. However, the expression of normal hemoglobin genes may be affected by mutations, resulting in hemoglobinopathies like sickle cell anaemia, in which the substitution of an adenine by a thymine in the beta globin gene leads to the translation of a valine in place of a glutamic acid. Such replacement culminates in the emergence of an atypical adult hemoglobin called S hemoglobin, which shows strong tendency to polymerize when in deoxygenate state, resulting in deformation and stiffening of the erythrocyte membrane, features responsible for the main clinical manifestations of the patient. As fetal hemoglobin (HbF) has a ³ chain instead of the ² chain, high levels of HbF inhibit the polymerization of the S hemoglobin and the sickling of the cells, decreasing the clinical manifestations of the disease. Based on this principle, a medicine known as hydroxyurea has been used in the treatment of sickle cell anaemia, for it increases HbF levels and cause other changes not yet well known and which result in the improvement of patient's clinical condition. Based on previously obtained pathways, the study in question aims to analyze the expression of some genes (ATF4, HEPH, SNCA and PLOD2) in patients with sickle cell anaemia treated and non treated with hydroxyurea, in order to prove differential expression and relate it with the changes observed between individuals treated and not treated with this medicine.

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