HBB hemoglobin subunit beta
Gene ID: 3043, updated on 7-Apr-2024Gene type: protein coding
Also known as: ECYT6; CD113t-C; beta-globin
- See all available tests in GTR for this gene
- Go to complete Gene record for HBB
- Go to Variation Viewer for HBB variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation. GeneReviews: Not available | |
| alpha Thalassemia | See labs |
| beta Thalassemia MedGen: C0005283GeneReviews: Beta-Thalassemia | See labs |
| Beta-thalassemia HBB/LCRB | See labs |
| Dominant beta-thalassemia | See labs |
| Erythrocytosis, familial, 6 | See labs |
| Genome-wide and fine-resolution association analysis of malaria in West Africa. GeneReviews: Not available | |
| Genome-wide association study indicates two novel resistance loci for severe malaria. GeneReviews: Not available | |
| Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia. GeneReviews: Not available | |
| Hb SS disease | See labs |
| HbA2 levels in normal adults are influenced by two distinct genetic mechanisms. GeneReviews: Not available | |
| Heinz body anemia | See labs |
| Hereditary persistence of fetal hemoglobin | See labs |
| Imputation-based meta-analysis of severe malaria in three African populations. GeneReviews: Not available | |
| Malaria, susceptibility to | See labs |
| Methemoglobinemia, beta-globin type | See labs |
Genomic context
- Location:
- 11p15.4
- Sequence:
- Chromosome: 11; NC_000011.10 (5225464..5227071, complement)
- Total number of exons:
- 3
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for HBB variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- HBB @ LOVD
- HbVar: A Database of Human Hemoglobin Variants and Thalassemias
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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