Molecular mechanisms involved in the production of fetal hemoglobin in erythroblasts of patients with beta thalassemia major and in heterozygotic individuals with hereditary persistence of fetal hemoglobin (brazilian type)

Author(s)

Flávia Peixoto Albuquerque

• Document type: Doctoral Thesis
• Press: Campinas, SP.
• Institution: Universidade Estadual de Campinas (UNICAMP). Faculdade de Ciências Médicas
• Defense date: 2022-06-28

Examining board members

Fernando Ferreira Costa; Paula de Melo Campos; Nicola Amanda Conran Zorzetto; Fabíola Traina; Aderson da Silva Araujo

• Advisor: Fernando Ferreira Costa

Abstract

Fetal hemoglobin (HbF), consisting essentially of two alpha globin 'alfa' and two gamma 'gama' chains, is produced during the fetal development period and its synthesis declines after six months of life, being gradually replaced by adult hemoglobin (HbA). The so-called 'F' cells represent a small fraction of the red blood cells that originate from immature erythroid progenitor cells. The precursors of these cells maintain the production of HbF, through the persistent activation of gamma globin genes, giving rise to F reticulocytes and then mature into F cells, where it is possible to determine the amount of fetal hemoglobin available in the bloodstream. So far, researchers have not identified which factors lead to the accumulation of fetal hemoglobin in F cells, although they are important for maintaining an adequate level of circulating red blood cells in patients with hemoglobinopathies. Patients with ß-thalassemia... The abstract is available with the full electronic document (AU)

• FAPESP's process: 18/01367-9 - Molecular mechanisms of fetal hemoglobin induction in eritroblasts of patients with bO/bO Thalassemia and in heterozygous individuals with non-deletional hereditary persistence of fetal hemoglobin (Brazilian type)
• Grantee: Flávia Peixoto Albuquerque
• Support Opportunities: Scholarships in Brazil - Doctorate