Molecular Diagnostic Approaches For Sickle Cell Anemia
DOI:
https://doi.org/10.62051/ecqw0s89Keywords:
Molecular diagnostic; sickle cell anemia; next-generation sequencing.Abstract
Sickle cell anemia (SCA) is a common genetic disease caused by gene mutations, affecting a large population worldwide, with newborns accounting for up to 79%. With the continuous development of molecular biology and molecular diagnostic technology, a variety of molecular diagnostic methods have been widely used in clinical practice in recent years, including polymerase chain reaction (PCR), high-resolution melting curve analysis (HRM), Sanger sequencing, next-generation sequencing (NGS), and digital PCR. This article introduces the pathological basis of SCA and its related gene mutations, and systematically summarizes several commonly used molecular diagnostic techniques, aiming to provide a reference for the optimization and improvement of early molecular diagnostic methods for the disease. As the core tool for achieving precise management, molecular diagnostic technology includes both traditional methods (such as Sanger sequencing) and emerging methods (such as CRISPR-Dx), and the two should complement each other in clinical practice. Future research should focus on simplifying technical processes, reducing testing costs, and widespread application worldwide to promote early diagnosis and effective management of SCA.
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