rs63750954
This variant is located in the HBB gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Real-time PCR for single-cell genotyping in sickle cell and thalassemia syndromes as a rapid, accurate, reliable, and widely applicable protocol for preimplantation genetic diagnosisMethodsChristina Vrettou et al.(2004)· Human Mutation
This chapter describes a real-time PCR method using the LightCycler system with hybridization probes for rapid detection of β-thalassemia and sickle cell syndrome mutations in prenatal diagnosis. The approach uses multiple probe sets designed to detect the most common mutations in the HBB gene across diverse populations worldwide, enabling high-throughput genotyping of parental and fetal DNA samples.
About HBB
The alpha (HBA) and beta (HBB) loci determine the structure of the 2 types of polypeptide chains in adult hemoglobin, Hb A. The normal adult hemoglobin tetramer consists of two alpha chains and two beta chains. Mutant beta globin causes sickle cell anemia. Absence of beta chain causes beta-zero-thalassemia. Reduced amounts of detectable beta globin causes beta-plus-thalassemia. The order of the genes in the beta-globin cluster is 5'-epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. [provided by RefSeq, Jul 2008]
View all HBB variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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