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[Population characterization of mutations for sickle cell anemia and its treatment: One step towards personalized medicine for the disease].

Andes pediatrica : revista Chilena de pediatria - 1 Feb 2024

Cayupe Bernardita, Barra Rafael

Abstract excerpt

Sickle cell anemia (SCA) is the most common genetic disease worldwide. There are countries with massive public health programs for early detection of this condition. In the literature, several specific haplotypes or single-base polymorphic variants (SNPs) have been associated with the SCA prognosis. OBJECTIVE: To demonstrate the significant correlation of SNPs relevant to the diagnosis and prognosis of SCA among...

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PMID: 38587343
DOI: 10.32641/andespediatr.v95i1.4752

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