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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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HBG1
hemoglobin subunit gamma 1
Chromosome 11 · 11p15.4
NCBI Gene: 3047Ensembl: ENSG00000213934.9HGNC: HGNC:4831UniProt: D9YZU8
205PubMed Papers
20Diseases
0Drugs
6Pathogenic Variants
FUNCTIONAL ROLE
Transporter
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
oxygen carrier activityoxygen transportheme bindinghemoglobin alpha bindingHereditary persistence of fetal hemoglobin - beta-thalassemiahereditary persistence of fetal hemoglobin-sickle cell disease syndromehereditary persistence of fetal hemoglobin-beta-thalassemia syndromedelta-beta-thalassemia
✦AI Summary

HBG1 (hemoglobin subunit gamma 1) encodes the gamma globin chain, which combines with alpha chains to form fetal hemoglobin (HbF, α2γ2) 1. The gene functions in oxygen transport and binding within the hemoglobin complex, with expression normally occurring during fetal development but being silenced after birth through a developmental switch to adult hemoglobin 2. HBG1 silencing in adult erythroid cells involves multiple regulatory mechanisms. The transcription factors NFIA and NFIX repress HBG1/2 both directly and indirectly through BCL11A activation 3, while HIF1α binding to regulatory elements downstream of HBG1 and HBG2 regulates their expression during stress erythropoiesis 2. Additionally, CpG methylation at HBG1 promoters, maintained through UHRF1-mediated mechanisms, contributes to gene silencing 4. Clinically, HBG1 reactivation represents a therapeutic strategy for β-hemoglobinopathies including sickle cell disease and β-thalassemia. Multiple gene-editing approaches—including CRISPR-Cas9 enhancer disruption 1, adenine base editors 5, and transformer base editors 6—can reactivate HBG1 expression to therapeutic levels in patient hematopoietic stem cells. These strategies demonstrate durable HbF induction with minimal off-target effects, offering potentially curative alternatives to current pharmacotherapies 7.

Sources cited
1
HBG1/2 re-expression induces fetal hemoglobin (HbF, α2γ2) and ameliorates sickle cell disease and β-thalassemia
PMID: 30911135
2
HIF1α binds regulatory elements near HBG1 and HBG2 to induce γ-globin expression during stress erythropoiesis
PMID: 36224385
3
Adenine base editor ABE8 can recreate natural alleles at HBG1/2 promoters with up to 60% efficiency in CD34+ cells
PMID: 32284586
4
NFIA and NFIX transcription factors repress HBG1/2 directly and through BCL11A activation in adult erythroid cells
PMID: 35618846
5
CpG methylation at HBG promoters mediated by UHRF1 and read by MBD2 facilitates HBG silencing
PMID: 40715076
6
Transformer base editor disruption of BCL11A-binding motifs in HBG1/2 promoters triggers potent fetal hemoglobin expression with no detectable off-target mutations
PMID: 37989316
7
γ-globin promoter editing efficiently induces HbF to therapeutic levels in sickle cell disease patient hematopoietic stem cells with no off-target activity
PMID: 39086133
8
Engineered virus-like particles enable in vivo editing of HBG1/2 loci in long-term human hematopoietic stem and progenitor cells
PMID: 41350944
Disease Associationsⓘ20
Hereditary persistence of fetal hemoglobin - beta-thalassemiaOpen Targets
0.64Moderate
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
0.46Moderate
hereditary persistence of fetal hemoglobin-beta-thalassemia syndromeOpen Targets
0.40Weak
delta-beta-thalassemiaOpen Targets
0.37Weak
hemoglobin E diseaseOpen Targets
0.08Suggestive
atrial fibrillationOpen Targets
0.07Suggestive
cardiovascular diseaseOpen Targets
0.04Suggestive
autosomal dominant cerebellar ataxiaOpen Targets
0.04Suggestive
familial hemolytic anemiaOpen Targets
0.03Suggestive
inherited hemoglobinopathyOpen Targets
0.03Suggestive
cancerOpen Targets
0.02Suggestive
lymphomaOpen Targets
0.02Suggestive
Beta-thalassemiaOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.02Suggestive
infectionOpen Targets
0.01Suggestive
sickle cell diseaseOpen Targets
0.01Suggestive
beta-thalassemia intermediaOpen Targets
0.01Suggestive
metabolic syndromeOpen Targets
0.01Suggestive
hemoglobinopathyOpen Targets
0.01Suggestive
Schnyder corneal dystrophyOpen Targets
0.01Suggestive
Pathogenic Variants6
NC_000011.10:g.5250015G>APathogenic
Hereditary persistence of fetal hemoglobin
☆☆☆☆1998
NC_000011.10:g.5249974C>TPathogenic
Sardinian HPFH|Greek HPFH|Hereditary persistence of fetal hemoglobin
☆☆☆☆1992
NC_000011.10:g.5250053G>APathogenic
Hereditary persistence of fetal hemoglobin
☆☆☆☆1992
NC_000011.10:g.5249971G>APathogenic
Hereditary persistence of fetal hemoglobin
☆☆☆☆1991
NC_000011.10:g.5250052G>CPathogenic
Hereditary persistence of fetal hemoglobin
☆☆☆☆1990
NC_000011.10:g.5250055A>GPathogenic
British HPFH|Hereditary persistence of fetal hemoglobin
☆☆☆☆1986
View on ClinVar ↗
Related Genes
GATA1Protein interaction100%AHSPProtein interaction94%HBS1LProtein interaction93%HBZProtein interaction91%HBDProtein interaction90%HBE1Protein interaction90%
Tissue Expression6 tissues
Lung
100%
Brain
0%
Heart
0%
Liver
0%
Bone Marrow
0%
Ovary
0%
Gene Interaction Network
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HBG1GATA1AHSPHBS1LHBZHBDHBE1
PROTEIN STRUCTURE
Preparing viewer…
PDB1I3D · 1.70 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.64LoF Tolerant
pLIⓘ
0.17Tolerant
Observed/Expected LoF0.59 [0.24–1.64]
RankingsWhere HBG1 stands among ~20K protein-coding genes
  • #2,043of 20,598
    Most Researched205 · top 10%
  • #3,306of 5,498
    Most Pathogenic Variants6
  • #15,870of 17,882
    Most Constrained (LOEUF)1.64
Genes detectedHBG1
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Highly efficient therapeutic gene editing of human hematopoietic stem cells.
PMID: 30911135
Nat Med · 2019
1.00
2
Activation of γ-globin expression by hypoxia-inducible factor 1α.
PMID: 36224385
Nature · 2022
0.90
3
Directed evolution of adenine base editors with increased activity and therapeutic application.
PMID: 32284586
Nat Biotechnol · 2020
0.80
4
Dual function NFI factors control fetal hemoglobin silencing in adult erythroid cells.
PMID: 35618846
Nat Genet · 2022
0.70
5
In vivo gene editing of human hematopoietic stem and progenitor cells using envelope-engineered virus-like particles.
PMID: 41350944
Nat Biotechnol · 2025
0.60