HBB Chromosome 11
Hemoglobin subunit beta
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What This Gene Does
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]
Gene Info
Gene Group
Hemoglobin subunits
Locus Type
gene with protein product
Location
11p15.4
Ensembl
ENSG00000244734
Associated Conditions (181)
HEMOGLOBIN LA DESIRADE
Hb SS disease
Hemoglobinopathy
8 conditions
beta Thalassemia
Beta-thalassemia HBB/LCRB
HBB-related disorder
Fetal hemoglobin quantitative trait locus 1
Hemoglobin E
Inborn genetic diseases
HEMOGLOBIN PYRGOS
Malaria
susceptibility to
HEMOGLOBIN N (BALTIMORE)
HEMOGLOBIN N (JENKINS)
HEMOGLOBIN JENKINS
HEMOGLOBIN HOPKINS 1
HEMOGLOBIN KENWOOD
HEMOGLOBIN G (COPENHAGEN)
HEMOGLOBIN G (SASKATOON)
+161 more conditions
Key Variants
RS1011427406
Conflicting classifications of pathogenicity
Health Risk
RS1034207896
Conflicting classifications of pathogenicity
Health Risk
RS111645889
Conflicting classifications of pathogenicity
HEMOGLOBIN LA DESIRADE, Hb SS disease, Hemoglobinopathy
Health Risk
RS111851677
Conflicting classifications of pathogenicity
beta Thalassemia, Beta-thalassemia HBB/LCRB, HBB-related disorder
Health Risk
RS113082294
Conflicting classifications of pathogenicity
beta Thalassemia, Fetal hemoglobin quantitative trait locus 1, Hb SS disease
Health Risk
RS1164871363
Conflicting classifications of pathogenicity
Health Risk
RS1184042209
Conflicting classifications of pathogenicity
Health Risk
RS1215164743
Conflicting classifications of pathogenicity
Health Risk
RS1251286087
Conflicting classifications of pathogenicity
Health Risk
RS1272414751
Conflicting classifications of pathogenicity
beta Thalassemia, beta Thalassemia
Health Risk
RS1291160651
Conflicting classifications of pathogenicity
Health Risk
RS1334966870
Conflicting classifications of pathogenicity
Health Risk
All Variants (398)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2494292050 | Health Risk | Likely pathogenic | — |
| RS2494295306 | Health Risk | Likely pathogenic | — |
| RS2494296171 | Health Risk | Likely pathogenic | — |
| RS2494296194 | Health Risk | Likely pathogenic | — |
| RS281864532 | Health Risk | Likely pathogenic | BETA-PLUS-THALASSEMIA, beta Thalassemia, BETA-PLUS-THALASSEMIA |
| RS33913413 | Health Risk | Likely pathogenic | BETA-PLUS-THALASSEMIA, Beta thalassemia intermedia, beta Thalassemia |
| RS33948578 | Health Risk | Likely pathogenic | HEMOGLOBIN PERTH, HEMOGLOBIN ABRAHAM LINCOLN, HEMOGLOBIN KOBE |
| RS33950778 | Health Risk | Likely pathogenic | HEMOGLOBIN SHANGHAI, HEMOGLOBIN SHANGHAI |
| RS33950993 | Health Risk | Likely pathogenic | HEMOGLOBIN SANTA CLARA, HEMOGLOBIN SANTA CLARA |
| RS33951978 | Health Risk | Likely pathogenic | HEMOGLOBIN WOOD, Erythrocytosis, familial |
| RS33960103 | Health Risk | Likely pathogenic | beta Thalassemia, Hb SS disease, Beta-thalassemia major |
| RS33972593 | Health Risk | Likely pathogenic | HEMOGLOBIN BRISBANE, HEMOGLOBIN GREAT LAKES, Erythrocytosis |
| RS33978338 | Health Risk | Likely pathogenic | HEMOGLOBIN CHEVERLY, HEMOGLOBIN ARTA, 8 conditions |
| RS33985544 | Health Risk | Likely pathogenic | HEMOGLOBIN ZURICH, Hemoglobinopathy, HEMOGLOBIN ZURICH |
| RS33991993 | Health Risk | Likely pathogenic | HEMOGLOBIN PROVIDENCE, Erythrocytosis, familial |
| RS33993568 | Health Risk | Likely pathogenic | HEMOGLOBIN D (IBADAN), beta Thalassemia, HEMOGLOBIN D (IBADAN) |
| RS33994806 | Health Risk | Likely pathogenic | BETA-PLUS-THALASSEMIA, beta Thalassemia, Beta-thalassemia HBB/LCRB |
| RS34083951 | Health Risk | Likely pathogenic | HEMOGLOBIN SAINT ETIENNE, Beta-thalassemia HBB/LCRB, HEMOGLOBIN SAINT ETIENNE |
| RS34533941 | Health Risk | Likely pathogenic | Beta zero thalassemia, Dominant beta-thalassemia, Beta zero thalassemia |
| RS35519485 | Health Risk | Likely pathogenic | — |
| RS35685286 | Health Risk | Likely pathogenic | HEMOGLOBIN LUFKIN, HEMOGLOBIN LUFKIN |
| RS35939489 | Health Risk | Likely pathogenic | HEMOGLOBIN CHICO, HEMOGLOBIN CHICO |
| RS63750320 | Health Risk | Likely pathogenic | Hemoglobinopathy, Hemoglobinopathy |
| RS63750928 | Health Risk | Likely pathogenic | HEMOGLOBIN LEIDEN, HEMOGLOBIN LEIDEN |
| RS63751076 | Health Risk | Likely pathogenic | Beta zero thalassemia, Hemoglobinopathy, beta Thalassemia |
| RS1135071 | Health Risk | Pathogenic | beta Thalassemia, beta Thalassemia |
| RS11549407 | Health Risk | Pathogenic | Beta zero thalassemia, beta Thalassemia, alpha Thalassemia |
| RS1554917561 | Health Risk | Pathogenic | beta Thalassemia, beta Thalassemia |
| RS1554917888 | Health Risk | Pathogenic | Beta zero thalassemia, beta Thalassemia, beta Thalassemia |
| RS1554917935 | Health Risk | Pathogenic | — |
| RS1554917970 | Health Risk | Pathogenic | beta Thalassemia, beta Thalassemia |
| RS1554918032 | Health Risk | Pathogenic | Beta zero thalassemia, beta Thalassemia, Beta zero thalassemia |
| RS1554918214 | Health Risk | Pathogenic | beta Thalassemia, beta Thalassemia |
| RS1564875145 | Health Risk | Pathogenic | — |
| RS1564875331 | Health Risk | Pathogenic | beta Thalassemia, beta Thalassemia |
| RS1564875707 | Health Risk | Pathogenic | beta Thalassemia, beta Thalassemia |
| RS1589891039 | Health Risk | Pathogenic | — |
| RS1589892417 | Health Risk | Pathogenic | — |
| RS1847513733 | Health Risk | Pathogenic | Beta-thalassemia major, Inborn genetic diseases, Beta-thalassemia major |
| RS1847516043 | Health Risk | Pathogenic | beta Thalassemia, beta Thalassemia |
| RS1847517857 | Health Risk | Pathogenic | — |
| RS1847518799 | Health Risk | Pathogenic | beta Thalassemia, beta Thalassemia |
| RS1847520793 | Health Risk | Pathogenic | beta Thalassemia, beta Thalassemia |
| RS1847521496 | Health Risk | Pathogenic | — |
| RS1847523960 | Health Risk | Pathogenic | beta Thalassemia, beta Thalassemia |
| RS1847534434 | Health Risk | Pathogenic | beta Thalassemia, beta Thalassemia |
| RS1847537515 | Health Risk | Pathogenic | beta Thalassemia, beta Thalassemia |
| RS1847551520 | Health Risk | Pathogenic | beta Thalassemia, beta Thalassemia |
| RS1847552371 | Health Risk | Pathogenic | — |
| RS1847552816 | Health Risk | Pathogenic | beta Thalassemia, beta Thalassemia |