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Beta globin haplotypes and mutations that determine beta-thalassemia as clinical and laboratory predictors of variation in individuals with Hb S / beta thalassemia

Grant number: 15/22780-3
Support type:Scholarships in Brazil - Scientific Initiation
Effective date (Start): May 01, 2016
Effective date (End): December 31, 2016
Field of knowledge:Biological Sciences - Genetics
Principal Investigator:Claudia Regina Bonini Domingos
Grantee:Nayara Alves Chaves
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

Abstract

Sickle cell disease (SCD) is the hemolytic anemias group with presence of hemoglobin S (Hb S), and includes sickle cell anemia, thalassemia interactions and associations with other hemoglobin variants. The interaction of HbS with beta-thalassemia (Hb S²-thalassemia) involves combinations that can result in variable phenotypes depending on the type of mutation for inherited beta thalassemia, the haplotypes of beta globin and hence basal amounts of Hb S, Hb F and Hb A. The DF has diverse pathophysiology, with multiple changes in erythrocytes, painful crises, vaso-occlusive episodes, chronic anemia, dysfunction and hemolysis endotelias cells. In individuals with Hb S²-thalassemia, the phenotypes of the disease reflect the hemolytic condition, so hemolysis markers such as lactate dehydrogenase (LDH), Aspartate Aminotransferase (AST), alanine aminotransferase (ALT), bilirubin, mostly indirect, reticulocytes, Volume corpuscular East (VCM) and corpuscular hemoglobin concentration (MCHC) can be used as good predictors of clinical and laboratory severity. In addition, genetic markers and haplotypes beta globin and beta-thalassemia mutations are also important in determining the severity of the disease. Knowing that the frequency of subjects with Hb S²-thalassemia is relatively high in the Brazilian population and that many studies are conducted only with sickle cell anemia, seek to better understand this interaction. In the present project, the objective is to analyze, in individuals with Hb S² thalassemia, hemolytic and genetic markers, to understand the disease phenotype.