Importância dos genes do Citoesqueleto eritrocitário na modulação do quadro clínico de pacientes com anemia falciforme: um foco no gene DMTN.
Sickle cell anemia is considered the most common inherited monogenic disease in the world. Currently, there are at least 300,000 diagnosed cases. In the disease, erythrocytes that have hemoglobin S undergo a sickling process, in which they lose their normal biconcave shape and take on an abnormal si...
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| Formato: | bachelorThesis |
| Idioma: | pt_BR |
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Universidade Federal do Rio Grande do Norte
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| Endereço do item: | https://repositorio.ufrn.br/handle/123456789/33311 |
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| Resumo: | Sickle cell anemia is considered the most common inherited monogenic disease in the world. Currently, there are at least 300,000 diagnosed cases. In the disease, erythrocytes that have hemoglobin S undergo a sickling process, in which they lose their normal biconcave shape and take on an abnormal sickle shape. This new structural arrangement of red blood cells leads to chronic inflammation, hemolysis and vessel occlusion, responsible for triggering several acute and chronic complications in all tissues of the patient's body, in many cases leading to multiple organ failure and death. Treatment is still very limited, including blood transfusions and the use of hydroxyurea as the main drug for sickle cell anemia. However, in recent years other therapeutic options have been approved by the FDA, such as voxelotor and crizanlizumab. Even though it is an old disease, there is still a long way to go to understand all the mechanisms and complex pathophysiology, considering the phenotypic diversity of patients. Genetic modifiers are a good example of groups that cause this clinical variety through polymorphisms or the absence of genes, such as the DMTN gene, which encodes dematin, an important protein for the stability of the erythrocyte membrane. Therefore, the objective of this paper is to present a bibliographic review on the main aspects of sickle cell anemia, including pathophysiology, clinical manifestations and therapy, in addition to the modulation of genes involved in the erythrocyte cytoskeleton, such as DMTN and its influence on the clinical picture of the disease. |
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