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Sickle cell anaemia is a disease that has direct implications for the vascular environment due to the polymerisation of haemoglobin S inside the erythrocyte, making them sickle and rigid. The two main phenomena that occur in FA, intravascular haemolysis and vaso-occlusion, generate disturbances in the vasculature of these patients and are responsible for a series of clinical complications. However, vaso-occlusion is a determining factor in clinical evolution, as the endothelium is responsible for vascular homeostasis, and any factor that could upset the balance, such as sickle cell erythrocytes occluding the vessels, triggers a cascade of pathophysiological events. In view of this, our aim was to investigate the influence of genetic polymorphisms that are directly or indirectly involved in vaso-occlusive processes on the clinical variability of sickle cell anaemia.
About the author
Aylla Núbia Lima Martins da Silva dos Santos has a PhD in Genetics and Molecular Biology with an emphasis on Human Population Genetics and Medical Genetics, working mainly on genetic and clinical investigations of haemoglobinopathies. She has also worked with metabolic syndrome among patients and quilombola and indigenous populations with an emphasis on molecular epidemiology.
