Gene Information
hemoglobin subunit beta [Source:HGNC Symbol;Acc:HGNC:4827]
HBB variants are associated with 18 diseases including hemoglobin E-beta-thalassemia syndrome and hereditary persistence of fetal hemoglobin-sickle cell disease syndrome and 16 others, with 43 documented clinical phenotypes.
The HBB gene is associated with 18 medical conditions, including:
hemoglobin E-beta-thalassemia syndrome
MONDO:0016491
hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
MONDO:0016672
hemoglobin D disease
MONDO:0019537
hemoglobin M disease
MONDO:0018023
sickle cell-hemoglobin E disease syndrome
MONDO:0016671
hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
MONDO:0018749
dominant beta-thalassemia
MONDO:0011381
hemoglobin E disease
MONDO:0016243
sickle cell-hemoglobin c disease syndrome
MONDO:0016669
beta-thalassemia major
MONDO:0016486
sickle cell disease
MONDO:0011382
beta-thalassemia intermedia
MONDO:0016487
... and 6 more diseases
Research has identified 43 phenotypic features associated with HBB variants:
Heinz body anemia
HP:0005511
Priapism
HP:0200023
Retinopathy
HP:0000488
Autosomal dominant inheritance
HP:0000006
Increased total leukocyte count
HP:0001974
Erythrocyte inclusion bodies
HP:0020080
Cardiomegaly
HP:0001640
Hemolytic anemia
HP:0001878
Persistence of hemoglobin F
HP:0011904
Splenic infarction
HP:0034336
Methemoglobinemia
HP:0012119
Hypochromic microcytic anemia
HP:0004840
Splenomegaly
HP:0001744
Recurrent bacterial infections
HP:0002718
Nonspherocytic hemolytic anemia
HP:0001930
ClinVar contains 10 variants associated with HBB. Below are some notable variants:
NM_000518.5(HBB):c.268_281del (p.Leu89_Ser90insTer)
PathogenicVCV004280311
Review: no assertion criteria provided
NM_000518.5(HBB):c.219_220delinsAT (p.Ser73_Asp74delinsArgTyr)
PathogenicVCV004280310
Review: no assertion criteria provided
NM_000518.5(HBB):c.290T>G (p.Leu97Arg)
PathogenicVCV004277917
Review: criteria provided, single submitter
GRCh37/hg19 11p15.4(chr11:5187270-5268464)x1
PathogenicVCV004075915
Review: criteria provided, single submitter
GRCh37/hg19 11p15.4(chr11:5244009-5253899)x1
PathogenicVCV004075885
Review: criteria provided, single submitter
There are 1,185 publications about HBB indexed in PubMed. Below are some recent papers:
The Masked Thalassemia: A Rare Case of a Patient with Normal HbA2 Levels, β-Thalassemia Pathogenic Variant (CD39 C>T), and a Novel δ-Globin Gene Deletion.
Chetta M, Salamandra A, Tarsitano M
PMID: 41255956
•
2025
•
Appl Clin Genet
Lactylation-Related Gene Signature and Immune Infiltration Crosstalk in Heart Failure: Insights from Bulk and Single-Cell Transcriptomics.
Xie Y, Huang T, Wang H
PMID: 41252712
•
2025 Nov 18
•
J Cardiovasc Pharmacol
Molecular identification and phenotypic study of a novel HBB: c.-23A>G mutation in the 5' untranslated region.
Shen S, Huang J, Qi H
PMID: 41244801
•
2025
•
Front Med (Lausanne)
CRISPR/Cas12a-SERS biosensor based on sea urchin-like AuNPs for the detection of β-thalassemia mutant gene CD31.
Xu H, Chen H, Li Y
PMID: 41239088
•
2025 Nov 14
•
Mikrochim Acta
Highly discriminative globin gene activation by the non-canonical BAF chromatin remodeling complex.
Bagchi A, Billakanti S, Shehu V
PMID: 41237357
•
2025 Nov 14
•
Blood
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Last updated: 11/20/2025