Scientific cooperation for the study of clinical, cellular and molecular alterations in the haemoglobinopathies and the understanding of the regulation of fetal haemoglobin

• Grant number: 10/51459-5
• Support Opportunities: Regular Research Grants
• Start date: September 01, 2010
• End date: August 31, 2012
• Field of knowledge: Health Sciences - Medicine - Medical Clinics
• Agreement: King's College London
• Principal Investigator: Nicola Amanda Conran Zorzetto
• Grantee: Nicola Amanda Conran Zorzetto
• Principal researcher abroad: Swee Lay Thein
• Institution abroad: King's College London, England
• Host Institution: Centro de Hematologia e Hemoterapia (HEMOCENTRO). Universidade Estadual de Campinas (UNICAMP). Campinas , SP, Brazil
• Associated research grant: 08/57441-0 - Clinical, cellular and molecular alterations in hemoglobinopathies and other hereditary hemolytic anemias, AP.TEM

Abstract

The inherited disorders of haemoglobin are probably the most prevalent monogenic disorders of mankind. Over the last decades, there has been significant progress in the elucidation of the molecular pathology of the diverse disturbances related to this protein, resulting in an enormous advance in the control and treatment of the diseases caused by these alterations. Results derived from studies of these alterations have been of great importance to our present understanding of several aspects of normal gene function, structure and regulation. Brazil presents a particular regional heterogeneity in the frequency of the haemoglobinopathies. Various studies carried out in different regions of Brazil have shown that the inherited disorders of the haemoglobins, especially of sickle cell disease (SCD) caused by the abnormal HbS, is particularly common in a large part of the Brazilian population. For example, in the state of São Paulo, approximately 8% of the individuals of African descent, and 1% of the general population are carriers of the 13s gene. A very preliminary estimate indicates that approximately 2000 cases of SCD due to homozygosity for HbS (HbSS) or compound heterozygosity with HbC (HbSC) and b thalassaemia (HbS/b thalassaemia) are born each year in Brazil. Over the last twenty years, our research group at the Haematology Centre, UNICAMP, has been regularly studying several aspects of inherited haemoglobin abnormalities in the Brazilian population. UNICAMP's scientific environment facilitates, and is conducive for a comprehensive translational study in SCD - there is a large patient cohort that is regularly followed up, supported by up to date laboratory facilities including protein and nucleic acid analyses. The close relationship between clinicians and laboratory scientists has led to development of a large number of studies involving the association of both clinical and laboratory aspects. The group has also been involved in furthering the understanding of some of the molecular and cellular alterations that may be involved in the pathophysiology of diseases such as sickle cell disease and thalassemia. (AU)