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Article

Identification of genetic variants associated with clinical features of sickle cell disease.

Scientific reports - 29 Aug 2024

Tsukahara Katharine, Chang Xiao, Mentch Frank, Smith-Whitley Kim, Bhandari Anita, Norris Cindy, Glessner Joseph T, Hakonarson Hakon

Abstract excerpt

Sickle cell disease (SCD) is an inherited blood disorder marked by homozygosity of hemoglobin S, which is a defective hemoglobin caused by a missense mutation in the β-globin gene. However, clinical phenotypes of SCD vary among patients. To investigate genetic variants associated with various clinical phenotypes of SCD, we genotyped DNA samples from 520 SCD subjects and used a genome-wide association study (GWAS)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39209956
DOI: 10.1038/s41598-024-70922-5
PMCID: PMC11362596

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