Sickle cell anemia: pathophysiology, therapeutic inequities, and cure perspectives
Keywords:
Sickle cell anemia, hematopoietic stem cell transplantation, hematological disorders, therapeutics, gene editingAbstract
Sickle cell anemia is one of the most prevalent hematological disorders worldwide, particularly affecting populations of African descent, such as in Brazil. It is characterized by a genetic mutation that alters the normal structure of hemoglobin in red blood cells, causing their deformation and impairing blood circulation. Key pathophysiological mechanisms, such as vascular occlusion and inflammation, lead to diverse clinical manifestations, including painful crises, acute chest syndrome, stroke, splenic sequestration, infections, priapism, chronic kidney disease, renal carcinoma, and certain retinopathies. This study conducted a literature review of medical sources, addressing basic concepts, pathophysiology, clinical aspects, and new treatment perspectives for sickle cell anemia. Long-term management involves treating acute complications, using medications, and performing blood transfusions as first-line interventions. Hematopoietic stem cell transplantation is currently the most widely used curative approach, but it has significant limitations and is not applicable to most patients. Emerging pharmacological therapies and gene-editing approaches offer promising prospects for a definitive cure, aiming to reduce complications, improve clinical outcomes, and enhance patients’ quality of life.
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Ackoundou-N'Guessan, C., Guei, C. M., Lagou, D. A., Gbekedi, S., Tia, M. W., Coulibaly, P. A., Nzoue, S., Konan, S., Koffi, G., & Gnionsahe, D. A. (2016). Insuffisance rénale chronique au cours de la drépanocytose: une analyse rétrospective de 100 patients adultes drépanocytaires majeurs d'Afrique noire [Chronic renal failure in sickle cell disease: A retrospective analysis of 100 adults sickle cell patients from black Africa]. Nephrologie & therapeutique, 12(3), 149–155. https://doi.org/10.1016/j.nephro.2015.08.004
Araujo de Almeida, R., & Zeni Beretta, A. L. (2025). Anemia falciforme e abordagem laboratorial: uma breve revisão de literatura. RBAC. https://www.rbac.org.br/artigos/anemia-falciforme-e-abordagem-laboratorial-uma-breve-revisao-de-literatura/
Barros Martins, E. C., Rodrigues Crespo, L., Gomes Mussi, I., De Vasconcellos Sales Pizelli, J., Romanel Vinco, L., & Corrêa Campos Barreto, J. C. (2023). Relação da anemia falciforme com pneumonias recorrentes: relato de caso. Anais da Semana Científica da Faculdade de Medicina de Campos, 2. https://doi.org/10.29184/anaisscfmc.v22023p55
Cavalcante Cardoso, S., Chaves de Souza Barbosa, A. C., Araújo Pinheiro, S. N., & Martins, L. N. (2016). Complicações da síndrome falciforme. Revista Enfermagem Contemporânea, 5(2). https://doi.org/10.17267/2317-3378rec.v5i2.1030Conte, T. O. de C., Souza, Á. E. G. de, Figueira, A. B. de L., Sá, A. V. R. de, Queiroz, G. M. V., Franco, J. S., et al. (2023). Incidência e manejo das urgências clínicas de pacientes portadores de anemia falciforme. Brazilian Journal of Health Review, 6(4), 18603–18619.
Cayupe, B., & Barra, R. (2024). Caracterización poblacional de mutaciones relevantes para la Anemia Falciforme y su tratamiento: Un paso hacia la personalización de la enfermedad. Andes pediátrica: Revista Chilena de pediatria, 95(1), 41–52. https://doi.org/10.32641/andespediatr.v95i1.4752
De Queiroz Cardoso, A. I., Ferreira Júnior, M. A., Mariano Pompeo, C., Ferreira Sarat, C. N., Penze Cardoso, M., & Ivo, M. L. (2021). Estudos econômicos completos sobre tratamentos da anemia falciforme. Acta Paulista de Enfermagem, 34, eAPE01641. https://www.scielo.br/j/ape/a/SW5cZzT9pnKtcGYQQCDdTPC/?lang=pt
Díaz-Matallana, M., Márquez-Benítez, Y., Martínez-Lozano, J. C., Briceño-Balcázar, I., Benavides-Benítez, E., & Bernal, J. E. (2021). Anemia falciforme: una revisión sobre el genotipo de la enfermedad, haplotipos, diagnóstico y estudios asociados [Disease genotype, haplotypes, diagnosis and associated studies in sickle cell anemia]. Revista medica de Chile, 149(9), 1322–1329. https://doi.org/10.4067/S0034-98872021000901322
Do Nascimento, M. I., Ferreira Przibilski, A. L., Gomes Coelho, C. S., De Amorim Leite, K. F., Makenze, M., & Bayer de Jesus, S. (2022). Mortality attributed to sickle cell disease in children and adolescents in Brazil, 2000-2019. Revista de Saude Publica, 56, 65. https://doi.org/10.11606/s1518-8787.2022056003681
Educa Cetrus. (2024). Complicações neurológicas na doença falciforme: Como fazer o manejo clínico eficiente? https://educa.cetrus.com.br/complicacoes-neurologicas-na-doenca-falciforme-como-fazer-o-manejo-clinico-eficiente/
Gastão Rosenfeld, L., Strachman Bacal, N., Martins Cuder, M. A., Gomes da Silva, A., Eloah Machado, Í., Azereido Pereira, C. A., Marinho de Souza, M. F., & Carvalho Malta, D. (2019). Prevalence of hemoglobinopathies in the Brazilian adult population: National Health Survey 2014–2015. Revista Brasileira de Epidemiologia = Brazilian Journal of Epidemiology, 22(Suppl 2), E190007.SUPL.2. https://doi.org/10.1590/1980-549720190007.supl.2
Ladeia, A. M., Salles, C., & Dias, C. (2020). Anemia falciforme e comorbidades associadas na infância e na adolescência. Editora Appris.
Lima, R., Rodrigues Ferreira, O. M., Lopes de Oliveira, A., Martins dos Santos, E., André Ferreira, D., Costa Brasileiro, I. V., Santos da Silva, J., Teixeira Cavalcante Gama, M. V., de Paula Soares Mendonça, T., & Feitosa de Lima, U. J. (2023). Anemia falciforme: Uma abordagem clínica e laboratorial. Revista Eletrônica Acervo Saúde, 23(9). https://doi.org/10.25248/reas.e13812.2023Carvalho, L. P. M., Neto, C. S., Guimarães, M. R., & Silva, D. R. G. (2024). Priapismo na anemia falciforme. Revista Contemporânea, 4(11), e6718.
Martins Souza, J., Elan Lemos Rosa, P., Lemos Souza, R., & Freitas Pires Castro, G. (2016). Fisiopatologia da anemia falciforme. Revista Transformar, 8(8), 162–178. https://www.fsj.edu.br/transformar/index.php/transformar/article/view/60/56
Neves Costa, P., Sales Santos, J., Días Bello, M. N., Paes de Lira Neto, P. O., & Da Silva Tiago, A. C. (2024). Anemia falciforme, diagnóstico precoce e aconselhamento genético na doença falciforme: uma revisão de literatura. Revista JRG de Estudos Acadêmicos, 7(15), e151181. https://doi.org/10.55892/jrg.v7i15.1181
Neves da Silva, F. A., Marques Soares, A. C., Cangussu Rocha, V. R., Silvestre Vilas Boas, B., Niz Muzzi, S. F., Cavalcante Pimenta, K., & Antunes Mota, S. L. (2025). Perfil epidemiológico de transtornos falciformes no Estado da Bahia: um estudo descritivo. Caderno Pedagógico, 22(4). https://doi.org/10.54033/cadpedv22n4-087
Outón González, C., & Guerra, M. (2015). Anemia falciforme: Manifestaciones clínicas y estrategias terapéuticas. Universidad de Zaragoza.
Paz, L. O., Dias, A. T., Messias, S. H. N., Martins, J. O., Muler, M. L., & Kaliniczenko, A. (2024). A doença falciforme no Brasil: Índices de natalidade e mortalidade entre 2018 e 2022. Hematology, Transfusion and Cell Therapy, 46(S4), S1–S1268. https://doi.org/10.1016/j.htct.2024.09.045
Peixoto e Silva, M. P., Ferreira da Silva, K. C. P., & dos Santos, W. L. (2021). Atualizações sobre anemia falciforme – Hidroxiureia. Revista JRG de Estudos Acadêmicos, 4(8), 318–326. https://doi.org/10.5281/zenodo.4648381
Pereira, L., Okumura, J., Santos, D., Silva, L., & Domingos, C. (2022). Fisiopatologia dos haplótipos Bantu e Benim em crianças com anemia falciforme. Hematology, Transfusion and Cell Therapy, 44. https://doi.org/10.1016/j.htct.2022.09.099
Roldan Isaza, M., Herrera Almanza, L., Hernández Martinez, A., & Martínez-Sánchez, L. M. (2020). Anemia falciforme y resistencia a la malaria: Revisión narrativa. Revista Facultad Ciencias de la Salud: Universidad del Cauca, 22(2), 34–42. https://dialnet.unirioja.es/descarga/articulo/7921645.pdf
Roque García, W. (2016). Fisiopatología del priapismo en el paciente con anemia drepanocítica. Revista Cubana de Hematología, Inmunología y Hemoterapia, 32(4), 438–446. http://scielo.sld.cu/pdf/hih/v32n4/hih03416.pdf
Suárez Crespo, M., Hernández Triguero, Y., Licourt Otero, D., & Cabrera Rodríguez, N. (2020). Programa de prevención de anemias por hematíes falciformes: Estrategia preventiva. Revista de Ciencias Médicas de Pinar del Río, 24(2), 205–214. https://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S1561-31942020000200205&lng=es&tlng=es
Vázquez Gutiérrez, G. L., Vázquez Palanco, J. R., Sariol Gonzalez, P. A., de La Rosa Santana, J. D., Calas Torres, J. J., & Labrada Batchelor, L. L. (2023). Priapismo y fimosis en la anemia drepanocítica [Priapism and phimosis in sickle cell anemia]. Hematología 2023, La Habana, Cuba.
Villanueva Luna, J. D. (2020). Temas selectos de hematología: Anemia falciforme y afines. Lulu.com.
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