Gene: HBD

Alternate names for this Gene: -

Gene Summary: The delta (HBD) and beta (HBB) genes are normally expressed in the adult: two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin. Two alpha chains plus two delta chains constitute HbA-2, which with HbF comprises the remaining 3% of adult hemoglobin. Five beta-like globin genes are found within a 45 kb cluster on chromosome 11 in the following order: 5'-epsilon--Ggamma--Agamma--delta--beta-3'. Mutations in the delta-globin gene are associated with beta-thalassemia.

Gene is located in Chromosome: 11

Location in Chromosome : 11p15.4

Description of this Gene: hemoglobin subunit delta

Type of Gene: protein-coding

rs2105819 in HBD gene and Fetal hemoglobin determination PMID 18245381 2008 Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia.

PMID 21326311 2011 Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.

rs35152987 in HBD gene and Hemoglobin A2 measurement PMID 26366553 2015 Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels.

rs35152987 in HBD gene and Hemoglobin measurement PMID 26366553 2015 Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels.

rs4402323 in HBD gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 28957414 2017 Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.

rs4402323 in HBD gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 28957414 2017 Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.