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Molecular basis and diagnosis of thalassemia

Thalassemia is characterized by the impaired synthesis of globin chains due to disease-causing variants in α- or β-globin genes. In this review, we provide an overview of the molecular basis underlying α- and β-thalassemia, and of the current technologies used to characterize these disease-causing v...

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Detalhes bibliográficos
Publicado no:Blood Res
Main Authors: Lee, Jee-Soo, Cho, Sung Im, Park, Sung Sup, Seong, Moon-Woo
Formato: Artigo
Idioma:Inglês
Publicado em: Korean Society of Hematology; Korean Society of Blood and Marrow Transplantation; Korean Society of Pediatric Hematology-Oncology; Korean Society on Thrombosis and Hemostasis 2021
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8093999/
https://ncbi.nlm.nih.gov/pubmed/33935034
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5045/br.2021.2020332
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