HBD Chromosome 11
Hemoglobin subunit delta
Upload your DNA to see your personal genotypes for variants in HBD.
What This Gene Does
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. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Hemoglobin subunits
Locus Type
gene with protein product
Location
11p15.4
Ensembl
ENSG00000223609
Associated Conditions (12)
delta Thalassemia
HEMOGLOBIN A(2) YIALOUSA
Fetal hemoglobin quantitative trait locus 1
Glucocorticoid-remediable aldosteronism
Thalassemia
Delta-beta-thalassemia
HBD-related disorder
Delta-0-thalassemia
Delta-plus-thalassemia
HEMOGLOBIN A(2) BABINGA
Hepatocellular carcinoma
HEMOGLOBIN A(2) GROVETOWN
Key Variants
RS35152987
Conflicting classifications of pathogenicity
delta Thalassemia, HEMOGLOBIN A(2) YIALOUSA, Fetal hemoglobin quantitative trait locus 1
Health Risk
RS549964658
Conflicting classifications of pathogenicity
Delta-beta-thalassemia, HBD-related disorder, Delta-beta-thalassemia
Health Risk
RS34224604
Pathogenic
Delta-0-thalassemia, Delta-0-thalassemia
Health Risk
RS34975911
Pathogenic
delta Thalassemia, delta Thalassemia
Health Risk
RS35324967
Pathogenic
delta Thalassemia, delta Thalassemia
Health Risk
RS35518301
Pathogenic
Delta-plus-thalassemia, Delta-plus-thalassemia
Health Risk
RS35654785
Pathogenic
delta Thalassemia, delta Thalassemia
Health Risk
RS35661168
Pathogenic
delta Thalassemia, delta Thalassemia
Health Risk
RS35849348
Pathogenic
HEMOGLOBIN A(2) BABINGA, HEMOGLOBIN A(2) BABINGA
Health Risk
RS35887507
Pathogenic
Delta-0-thalassemia, Delta-0-thalassemia
Health Risk
RS36023765
Pathogenic
delta Thalassemia, Hepatocellular carcinoma, delta Thalassemia
Health Risk
RS63750345
Pathogenic
delta Thalassemia, delta Thalassemia
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS35152987 | Health Risk | Conflicting classifications of pathogenicity | delta Thalassemia, HEMOGLOBIN A(2) YIALOUSA, Fetal hemoglobin quantitative trait locus 1 |
| RS549964658 | Health Risk | Conflicting classifications of pathogenicity | Delta-beta-thalassemia, HBD-related disorder, Delta-beta-thalassemia |
| RS34224604 | Health Risk | Pathogenic | Delta-0-thalassemia, Delta-0-thalassemia |
| RS34975911 | Health Risk | Pathogenic | delta Thalassemia, delta Thalassemia |
| RS35324967 | Health Risk | Pathogenic | delta Thalassemia, delta Thalassemia |
| RS35518301 | Health Risk | Pathogenic | Delta-plus-thalassemia, Delta-plus-thalassemia |
| RS35654785 | Health Risk | Pathogenic | delta Thalassemia, delta Thalassemia |
| RS35661168 | Health Risk | Pathogenic | delta Thalassemia, delta Thalassemia |
| RS35849348 | Health Risk | Pathogenic | HEMOGLOBIN A(2) BABINGA, HEMOGLOBIN A(2) BABINGA |
| RS35887507 | Health Risk | Pathogenic | Delta-0-thalassemia, Delta-0-thalassemia |
| RS36023765 | Health Risk | Pathogenic | delta Thalassemia, Hepatocellular carcinoma, delta Thalassemia |
| RS63750345 | Health Risk | Pathogenic | delta Thalassemia, delta Thalassemia |
| RS34430836 | Health Risk | Pathogenic; other | delta Thalassemia, HEMOGLOBIN A(2) GROVETOWN, delta Thalassemia |