Beta-thalassemia is a hereditary hemoglobinopathy caused by mutations in the HBB gene, which compromise the synthesis of the β-globin chain of hemoglobin, resulting in chronic anemia and transfusion dependence. Gene therapy based on CRISPR-Cas9 emerges as a promising alternative to correct these mutations, allowing both the direct restoration of β-globin expression and the therapeutic reactivation of fetal hemoglobin (HbF) through the modulation of regulatory elements such as BCL11A. This narrative and analytical literature review examines the main technological and clinical advances related to the use of the CRISPR-Cas9 system and its variants (Cas12a, base editing, and prime editing) in β-thalassemia, with emphasis on genomic safety, therapeutic efficiency, and implementation feasibility. Delivery methods such as RNP, AAV6, and lipid nanoparticles are discussed, in addition to in vivo editing strategies and the integration of artificial intelligence into gRNA design. Despite the progress achieved, challenges persist regarding off-target effects, p53 activation, clonal stability, and the high costs that limit applicability in public health systems, particularly in the Brazilian context. It is concluded that, although still in the translational phase, CRISPR-Cas9 represents one of the most revolutionary tools for the curative treatment of β-thalassemia, paving the way for safer, more precise, and more accessible therapies, in which the biomedical professional plays an essential role in technical validation, monitoring, and laboratory biosafety
DOI:
https://doi.org/10.61164/ef6z6361Keywords:
HBB Gene; Fetal Hemoglobin; Gene Editing; BCL11AAbstract
A β-talassemia é uma hemoglobinopatia hereditária causada por mutações no gene HBB, que comprometem a síntese da cadeia β da hemoglobina, resultando em anemia crônica e dependência transfusional. A terapia gênica baseada em CRISPR-Cas9 surge como uma alternativa promissora para corrigir essas mutações, permitindo tanto a restauração direta da expressão da β-globina quanto a reativação terapêutica da hemoglobina fetal (HbF) por meio da modulação de elementos regulatórios como o BCL11A. Esta revisão bibliográfica, de caráter narrativo e analítico, examina os principais avanços tecnológicos e clínicos relacionados ao uso do sistema CRISPR-Cas9 e suas variantes (Cas12a, base editing e prime editing) na β-talassemia, com ênfase em segurança genômica, eficiência terapêutica e viabilidade de implementação. São abordados métodos de entrega como RNP, AAV6 e nanopartículas lipídicas, além de estratégias de edição in vivo e integração de inteligência artificial no design de gRNAs. Apesar dos progressos, desafios persistem quanto aos efeitos off-target, ativação de p53, estabilidade clonal e custos elevados que limitam a aplicabilidade em sistemas públicos de saúde, especialmente no contexto brasileiro. Conclui-se que, embora ainda em fase translacional, o CRISPR-Cas9 representa uma das ferramentas mais revolucionárias para o tratamento curativo da β-talassemia, abrindo caminho para terapias mais seguras, precisas e acessíveis, nas quais o biomédico desempenha papel essencial na validação técnica, monitoramento e biossegurança laboratorial.
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- Autores mantém os direitos autorais e concedem à revista o direito de primeira publicação, com o trabalho simultaneamente licenciado sob a Licença Creative Commons Attribution que permite o compartilhamento do trabalho com reconhecimento da autoria e publicação inicial nesta revista;
- Autores têm autorização para assumir contratos adicionais separadamente, para distribuição não-exclusiva da versão do trabalho publicada nesta revista (ex.: publicar em repositório institucional ou como capítulo de livro), com reconhecimento de autoria e publicação inicial nesta revista, desde que adpatado ao template do repositório em questão;
- Autores têm permissão e são estimulados a publicar e distribuir seu trabalho online (ex.: em repositórios institucionais ou na sua página pessoal) a qualquer ponto antes ou durante o processo editorial, já que isso pode gerar alterações produtivas, bem como aumentar o impacto e a citação do trabalho publicado (Veja O Efeito do Acesso Livre).
- Os autores são responsáveis por inserir corretamente seus dados, incluindo nome, palavras-chave, resumos e demais informações, definindo assim a forma como desejam ser citados. Dessa forma, o corpo editorial da revista não se responsabiliza por eventuais erros ou inconsistências nesses registros.
POLÍTICA DE PRIVACIDADE
Os nomes e endereços informados nesta revista serão usados exclusivamente para os serviços prestados por esta publicação, não sendo disponibilizados para outras finalidades ou a terceiros.
Obs: todo o conteúdo do trabalho é de responsabilidade do autor e orientador.
