The HBB gene homepage

General information
Gene symbol HBB
Gene name hemoglobin, beta
Chromosome 11
Chromosomal band p15.5
Imprinted Unknown
Genomic reference NG_000007.3
Transcript reference NM_000518.4
Exon/intron information NM_000518.4 exon/intron table
Associated with diseases anemia, Heinz, anemia, sickle cell, ECYT6, HBFQTL1, MLRS, thal, thalbeta, anemia, Methmoglobinemia, beta type, thalassemia, beta, dominant inclusion body type
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 21020
Unique public DNA variants reported 1170
Individuals with public variants 8072
Hidden variants 2
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created October 28, 2008
Date last updated April 16, 2023
Version HBB:230416

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000518.4.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
External URL HbVar - human hemoglobin variants and thalassemias
The Globin Gene Server
HGNC 4827
Entrez Gene 3043
PubMed articles HBB
OMIM - Gene 141900
OMIM - Diseases anemia, Heinz (anemia, Heinz body)
anemia, sickle cell (anemia, sickle cell (HbS disease))
ECYT6 (Erythrocytosis 6)
HBFQTL1 (hemoglobin, fetal, quantitative trait locus 1 (HBFQTL-1))
MLRS (malaria, susceptibility to)
thalbeta (thalassemia, beta (thalassemia, Hispanic gamma-delta-beta))
Methmoglobinemia, beta type
thalassemia, beta, dominant inclusion body type
GeneCards HBB
GeneTests HBB
Orphanet HBB

Active transcripts




NCBI ID     

NCBI Protein ID     

00000017 11 hemoglobin, beta NM_000518.4 NP_000509.1 21020

Copyright & disclaimer
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