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Influence of polymorphisms CBS- 844ins68, Factor V G1691A, MTHFR C677T and PRT-G20210A in the phenotypic expression of sickle cell anemia

Grant number: 16/18449-2
Support type:Scholarships in Brazil - Scientific Initiation
Effective date (Start): January 01, 2017
Effective date (End): December 31, 2017
Field of knowledge:Health Sciences - Medicine - Medical Clinics
Principal researcher:Claudia Regina Bonini Domingos
Grantee:Leticia Sayuri Sybuia
Home Institution: Instituto de Biociências, Letras e Ciências Exatas (IBILCE). Universidade Estadual Paulista (UNESP). Campus de São José do Rio Preto. São José do Rio Preto , SP, Brazil


Sickle Cell Anemia (SCA), characterized by the presence of Hb S in homozygous, presents physiopathological events as hemolysis and vaso-occlusion, leading to ischemia-reperfusion injury with consequent clinical manifestations such as acute chest syndrome (ACS), crises of pain and priapism. These manifestations can be aggravated by genetic polymorphisms involved in some metabolic pathways such as those involved with the vascular system, the main ones being: G1692A of Factor V Leiden (F5), 844ins68 in the gene of cystathionine beta-synthase (CBS) C677T polymorphism in the gene methylenetetrahydrofolate reductase (MTHFR) and the G2010A polymorphism of the prothrombin (PRT). In the present project, we aimed to assess, in children and in adults with SCA, the occurrence of vaso-occlusive process by correlating them with the specific genetic polymorphisms for genes CBS, F5, MTHFR, PRT. Approximately 200 children and 1000 adults with SCA, from the HEMORIO, will be part of the study. The change in hemoglobin will be confirmed by classical diagnostic tests followed by molecular analysis (PCR) for genotyping. The investigation of the presence or absence of polymorphisms in genes will be assessed by PCR. The data survey about vaso-occlusive events (ACS, crises of pain and priapism) is based on an analysis of medical records and information contained in the database of HEMORIO (Sach) with the supervision of hematologists and pediatricians. At the end of the study it will be possible to verify the influence of polymorphisms in the occurrence of these evaluated clinical manifestations and help clinical guidance. (AU)

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