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

Abstract 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 vario...

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Detalhes bibliográficos

Principais autores:	Katharine Tsukahara, Xiao Chang, Frank Mentch, Kim Smith-Whitley, Anita Bhandari, Cindy Norris, Joseph T. Glessner, Hakon Hakonarson
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Nature Portfolio 2024-08-01
coleção:	Scientific Reports
Assuntos:	Genome-wide association study Sickle cell anemia Hemoglobinopathies Fetal hemoglobin
Acesso em linha:	https://doi.org/10.1038/s41598-024-70922-5
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