hemoglobin E disease

disease

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Summary

hemoglobin E disease (MONDO:0016243) is a disease with 9 cohort genes (3 GWAS associations across 1 studies). The dominant Reactome pathway is Factors involved in megakaryocyte development and platelet production (5 cohort genes).

At a glance

Prevalence: Unknown (Worldwide)
Cohort genes: 9
GWAS associations: 3
ClinVar variants: 1
Phenotypes (HPO): 13

Clinical features

Signs & symptoms

Clinical features (HPO)

13 HPO clinical features (Orphanet curated; top 13 by frequency):

HPO ID	Term	Frequency
HP:0004840	Hypochromic microcytic anemia	Very frequent (80-99%)
HP:0010972	Anemia of inadequate production	Very frequent (80-99%)
HP:0011902	Abnormal hemoglobin	Very frequent (80-99%)
HP:0020059	Increased red blood cell count	Very frequent (80-99%)
HP:0025066	Decreased mean corpuscular volume	Very frequent (80-99%)
HP:0032231	Hypochromia	Very frequent (80-99%)
HP:0011905	Reduced hemoglobin A	Frequent (30-79%)
HP:0001511	Intrauterine growth retardation	Occasional (5-29%)
HP:0001622	Premature birth	Occasional (5-29%)
HP:0001744	Splenomegaly	Occasional (5-29%)
HP:0004817	Drug-sensitive hemolytic anemia	Occasional (5-29%)
HP:0005546	Increased red cell osmotic resistance	Occasional (5-29%)
HP:0005268	Spontaneous abortion	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	hemoglobin E disease
Mondo ID	MONDO:0016243
Orphanet	2133
DOID	DOID:5379
ICD-11	1898135714
NCIT	C35287
SNOMED CT	25065001
UMLS	C0238159
MedGen	68658
GARD	0002641
MedDRA	10053215
Is cancer (heuristic)	no

Also known as: hemoglobin E disease

Data availability: 1 ClinVar variant · 3 GWAS associations (1 study) · 1 GenCC gene-disease record.

Disease family

Classification path: disease › human disease › disease by body system or component › hematologic disorder › anemia › hemoglobin E disease

Genetics & variants

GWAS landscape

3 GWAS associations across 1 studies. Top hits map to 3 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs2071348	3e-15	HBD, HBBP1	?	4.05
rs9376092	2e-11	HBS1L - MYB	?	2.91
rs766432	1e-10	BCL11A	?	2.8

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST000532	Nuinoon M	2009	235	0	A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	0
Tier 2: splice/UTR	0
Tier 3: regulatory	0
Tier 4: intronic/intergenic	3

MAF distribution

Bucket	Variants
common (>=0.05)	3
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	0

Functional consequences

Consequence	Count
intron_variant	2
intergenic_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs2071348	11	5242916	T>A,C,G	0.5	intron_variant	HBD, HBBP1	3e-15	Tier 4: intronic/intergenic
rs9376092	6	135106006	C>A	0.23	intergenic_variant	HBS1L - MYB	2e-11	Tier 4: intronic/intergenic
rs766432	2	60492835	C>A,G,T	0.24	intron_variant	BCL11A	1e-10	Tier 4: intronic/intergenic

ClinVar germline variants

1 retrieved; paginated sample, class counts are floors:

1 pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
15161	NM_000518.5(HBB):c.79G>A (p.Glu27Lys)	HBB	Pathogenic	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 33 · Orphanet: 41 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 3

Dual-evidence genes (GWAS + Mendelian — highest-confidence targets)

Gene	HGNC	Evidence routes
BCL11A	BCL11A	GWAS, Orphanet
HBD	HBD	GWAS, Orphanet
HBG2	HBG2	GWAS, Orphanet

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
HBB	Strong	Autosomal dominant	hereditary persistence of fetal hemoglobin	33

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
HBB	Orphanet:2132	Hemoglobin C disease
HBB	Orphanet:2133	Hemoglobin E disease
HBB	Orphanet:231214	Beta-thalassemia major
HBB	Orphanet:231222	Beta-thalassemia intermedia
HBB	Orphanet:231226	Unstable beta globin chain variant disease
HBB	Orphanet:231237	Delta-beta-thalassemia
HBB	Orphanet:231242	Hemoglobin C-beta-thalassemia syndrome
HBB	Orphanet:231249	Hemoglobin E-beta-thalassemia syndrome
HBB	Orphanet:232	Sickle cell anemia
HBB	Orphanet:247511	Autosomal dominant secondary polycythemia
HBB	Orphanet:251365	Sickle cell S-C disease
HBB	Orphanet:251370	Sickle cell S-D Punjab disease
HBB	Orphanet:251375	Sickle cell S-E disease
HBB	Orphanet:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
HBB	Orphanet:330041	Hemoglobin M disease
HBB	Orphanet:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
HBB	Orphanet:695140	Sickle cell-beta zero-thalassemia
HBB	Orphanet:695147	Sickle cell-beta plus-thalassemia
HBB	Orphanet:699822	Sickle cell S-Lepore disease
HBB	Orphanet:700090	Sickle cell S-O Arab disease
HBB	Orphanet:700107	Sickle cell S-other specified hemoglobin variant
HBB	Orphanet:700111	Homozygous hemoglobin O Arab disease
HBB	Orphanet:715125	Hemoglobin E-beta-thalassemia intermedia
HBB	Orphanet:715128	Hemoglobin E-beta-thalassemia major
HBB	Orphanet:715135	Hemoglobin Lepore-beta-thalassemia intermedia
HBB	Orphanet:715140	Hemoglobin Lepore-beta-thalassemia major
HBB	Orphanet:715143	Heterozygous beta-thalassemia intermedia with supernumerary alpha-globin gene
HBB	Orphanet:715157	Low oxygen affinity beta chain hemoglobin disease
HBB	Orphanet:90039	Hemoglobin D disease
BCL11A	Orphanet:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
BCL11A	Orphanet:619233	Hereditary persistence of fetal hemoglobin-intellectual disability syndrome
HBD	Orphanet:231237	Delta-beta-thalassemia
HBD	Orphanet:330032	Hemoglobin Lepore-beta-thalassemia syndrome
HBD	Orphanet:699822	Sickle cell S-Lepore disease
HBG2	Orphanet:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
HBG2	Orphanet:280615	Low oxygen affinity gamma chain hemoglobin disease
HBG2	Orphanet:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
HBG2	Orphanet:707792	Unstable gamma globin chain variant disease
MYB	Orphanet:251671	Angiocentric glioma
MYB	Orphanet:86849	Acute basophilic leukemia
MYB	Orphanet:99861	Precursor T-cell acute lymphoblastic leukemia

Cohort genes → proteins

9 cohort genes, 8 distinct canonical proteins.

Evidence partition

Subset	Genes
gwas_only	8
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
HBB	HGNC:4827	ENSG00000244734	P68871	Hemoglobin subunit beta	gencc,clinvar
BCL11A	HGNC:13221	ENSG00000119866	Q9H165	BCL11 transcription factor A	gwas
ACSBG1	HGNC:29567	ENSG00000103740	Q96GR2	Long-chain-fatty-acid–CoA ligase ACSBG1	gwas
HBBP1	HGNC:4828	ENSG00000229988		hemoglobin subunit beta pseudogene 1	gwas
HBD	HGNC:4829	ENSG00000223609	P02042	Hemoglobin subunit delta	gwas
HBE1	HGNC:4830	ENSG00000213931	P02100	Hemoglobin subunit epsilon	gwas
HBG2	HGNC:4832	ENSG00000196565	P69892	Hemoglobin subunit gamma-2	gwas
HBS1L	HGNC:4834	ENSG00000112339	Q9Y450	HBS1-like protein	gwas
MYB	HGNC:7545	ENSG00000118513	P10242	Transcriptional activator Myb	gwas

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
HBB	Hemoglobin subunit beta	Involved in oxygen transport from the lung to the various peripheral tissues.
BCL11A	BCL11 transcription factor A	Transcription factor.
ACSBG1	Long-chain-fatty-acid–CoA ligase ACSBG1	Catalyzes the conversion of fatty acids such as long-chain and very long-chain fatty acids to their active form acyl-CoAs for both synthesis of cellular lipids, and degradation via beta-oxidation.
HBD	Hemoglobin subunit delta	Involved in oxygen transport from the lung to the various peripheral tissues.
HBE1	Hemoglobin subunit epsilon	The epsilon chain is a beta-type chain of early mammalian embryonic hemoglobin.
HBG2	Hemoglobin subunit gamma-2	Gamma chains make up the fetal hemoglobin F, in combination with alpha chains.
HBS1L	HBS1-like protein	GTPase component of the Pelota-HBS1L complex, a complex that recognizes stalled ribosomes and triggers the No-Go Decay (NGD) pathway.
MYB	Transcriptional activator Myb	Transcriptional activator; DNA-binding protein that specifically recognize the sequence 5’-YAAC[GT]G-3'.

Protein-family classification

Druggable: 0 · Difficult: 2 · Unknown: 7 · Druggable fraction: 0.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Transcription factor	2	1.8×	0.299
Other/Unknown	7	1.4×	0.299

Per-gene assignment

Symbol	Family	Druggable?	InterPro (top 3)
HBB	Other/Unknown	no	Globin, Hemoglobin_b, Globin-like_sf
BCL11A	Transcription factor	no	Znf_C2H2_type, Znf_C2H2_sf, Dev/Hematopoietic_TF
ACSBG1	Other/Unknown	no	AMP-dep_synth/lig_dom, AMP-binding_CS, ANL_N_sf
HBBP1	Other/Unknown	no
HBD	Other/Unknown	no	Globin, Hemoglobin_b, Globin-like_sf
HBE1	Other/Unknown	no	Globin, Hemoglobin_b, Globin-like_sf
HBG2	Other/Unknown	no	Globin, Hemoglobin_b, Globin-like_sf
HBS1L	Other/Unknown	no	T_Tr_GTP-bd_dom, EFTu-like_2, Transl_B-barrel_sf
MYB	Transcription factor	no	SANT/Myb, Homeodomain-like_sf, Tscrpt_reg_Wos2-domain

Expression context

Cohort genes with no expression data: 0.

9 cohort genes are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	9
unknown	0

Top tissues across cohort

Tissue	Cohort genes
trabecular bone tissue	2
vena cava	2
ganglionic eminence	2
male germ line stem cell (sensu Vertebrata) in testis	2
adrenal tissue	2
monocyte	1
cortical plate	1
primary visual cortex	1
C1 segment of cervical spinal cord	1
inferior olivary complex	1
upper leg skin	1
pancreatic ductal cell	1
bone marrow	1
bone marrow cell	1
primordial germ cell in gonad	1
placenta	1
calcaneal tendon	1
gastrocnemius	1
muscle of leg	1
bronchial epithelial cell	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
HBB	284	broad	marker	monocyte, trabecular bone tissue, vena cava
BCL11A	247	ubiquitous	marker	cortical plate, ganglionic eminence, primary visual cortex
ACSBG1	207	broad	marker	upper leg skin, inferior olivary complex, C1 segment of cervical spinal cord
HBBP1	55	tissue_specific	marker	male germ line stem cell (sensu Vertebrata) in testis, pancreatic ductal cell, vena cava
HBD	170	tissue_specific	marker	trabecular bone tissue, bone marrow, bone marrow cell
HBE1	127	tissue_specific	marker	male germ line stem cell (sensu Vertebrata) in testis, primordial germ cell in gonad, adrenal tissue
HBG2	129	tissue_specific	marker	placenta, adrenal tissue, ganglionic eminence
HBS1L	290	ubiquitous	marker	calcaneal tendon, muscle of leg, gastrocnemius
MYB	183	broad	marker	mucosa of sigmoid colon, bronchial epithelial cell, epithelium of bronchus

Protein interactions among cohort

Intra-cohort edges: 5.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
MYB	3,155
BCL11A	2,389
HBS1L	2,360
ACSBG1	1,697
HBD	1,206
HBE1	1,167
HBB	454
HBG2	66
HBBP1	0

Intra-cohort edges

A	B	Sources
BCL11A	HBD	string_interaction
BCL11A	HBE1	string_interaction
BCL11A	HBS1L	string_interaction
HBB	HBE1	biogrid_interaction, intact
HBE1	HBS1L	string_interaction

Structural data

PDB: 6 · AlphaFold-only: 2 · No structure: 1

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
HBB	P68871	350
BCL11A	Q9H165	17
HBS1L	Q9Y450	11
HBG2	P69892	4
HBD	P02042	2
HBE1	P02100	1

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
ACSBG1	Q96GR2	84.99
MYB	P10242	59.16

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 38. Enrichment computed across 9 evidence-associated genes (8 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 8 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Factors involved in megakaryocyte development and platelet production	5	41.5×	2e-06	HBB, HBD, HBE1, HBG2, MYB
Heme assimilation	1	475.8×	0.040	HBB
Erythrocytes take up oxygen and release carbon dioxide	1	158.6×	0.053	HBB
ALK mutants bind TKIs	1	119.0×	0.053	BCL11A
Erythrocytes take up carbon dioxide and release oxygen	1	109.8×	0.053	HBB
Scavenging of heme from plasma	1	109.8×	0.053	HBB
mRNA decay by 3’ to 5’ exoribonuclease	1	89.2×	0.053	HBS1L
Specification of the neural plate border	1	79.3×	0.053	MYB
Formation of the embryonic stem cell BAF (esBAF) complex	1	75.1×	0.053	BCL11A
Chaperone Mediated Autophagy	1	62.1×	0.053	HBB
Synthesis of very long-chain fatty acyl-CoAs	1	57.1×	0.053	ACSBG1
Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF)	1	57.1×	0.053	BCL11A
Fatty acyl-CoA biosynthesis	1	54.9×	0.053	ACSBG1
Late endosomal microautophagy	1	40.8×	0.066	HBB
Signaling by ALK in cancer	1	34.0×	0.072	BCL11A
Gastrulation	1	32.4×	0.072	MYB
Heme signaling	1	26.9×	0.082	HBB
Cytoprotection by HMOX1	1	23.0×	0.090	HBB
Signaling by ALK fusions and activated point mutants	1	18.8×	0.098	BCL11A
Transcriptional regulation by RUNX1	1	18.3×	0.098	MYB
Fatty acid metabolism	1	16.4×	0.098	ACSBG1
ESR-mediated signaling	1	16.0×	0.098	MYB
Transcriptional regulation of granulopoiesis	1	15.7×	0.098	MYB
PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA	1	15.7×	0.098	HBS1L
Signaling by Nuclear Receptors	1	12.8×	0.115	MYB
RUNX1 regulates transcription of genes involved in differentiation of HSCs	1	11.9×	0.118	MYB
Estrogen-dependent gene expression	1	9.4×	0.142	MYB
Diseases of signal transduction by growth factor receptors and second messengers	1	7.1×	0.180	BCL11A
Hemostasis	1	4.5×	0.264	MYB
Metabolism of lipids	1	3.9×	0.288	ACSBG1

GO biological processes by enrichment

GO term	Cohort genes	Fold	FDR	Sample cohort genes
carbon dioxide transport	4	648.1×	1e-09	HBB, HBD, HBE1, HBG2
oxygen transport	4	526.6×	1e-09	HBB, HBD, HBE1, HBG2
erythrocyte development	4	263.3×	2e-08	HBB, HBD, HBE1, HBG2
negative regulation of neuron remodeling	1	2106.5×	0.007	BCL11A
negative regulation of branching morphogenesis of a nerve	1	2106.5×	0.007	BCL11A
negative regulation of protein homooligomerization	1	702.2×	0.013	BCL11A
positive regulation of hepatic stellate cell proliferation	1	702.2×	0.013	MYB
positive regulation of testosterone secretion	1	702.2×	0.013	MYB
myeloid cell development	1	526.6×	0.013	MYB
negative regulation of hematopoietic progenitor cell differentiation	1	526.6×	0.013	MYB
negative regulation of dendrite extension	1	526.6×	0.013	BCL11A
skeletal muscle cell proliferation	1	421.3×	0.014	MYB
nitric oxide transport	1	421.3×	0.014	HBB
positive regulation of hepatic stellate cell activation	1	351.1×	0.015	MYB
nuclear-transcribed mRNA catabolic process, no-go decay	1	300.9×	0.015	HBS1L
positive regulation of transforming growth factor beta production	1	263.3×	0.015	MYB
negative regulation of dendrite development	1	263.3×	0.015	BCL11A
stem cell division	1	234.1×	0.015	MYB
T-helper 2 cell differentiation	1	234.1×	0.015	MYB
positive regulation of collateral sprouting	1	234.1×	0.015	BCL11A
cellular oxidant detoxification	1	234.1×	0.015	HBB
renal absorption	1	210.7×	0.015	HBB
cellular response to L-glutamate	1	210.7×	0.015	BCL11A
negative regulation of collateral sprouting	1	191.5×	0.016	BCL11A
ribosome disassembly	1	123.9×	0.022	HBS1L
embryonic digestive tract development	1	123.9×	0.022	MYB
regulation of dendrite development	1	123.9×	0.022	BCL11A
cellular response to interleukin-6	1	123.9×	0.022	MYB
negative regulation of megakaryocyte differentiation	1	110.9×	0.023	MYB
long-chain fatty-acyl-CoA biosynthetic process	1	105.3×	0.024	ACSBG1

Therapeutics

Drug target analysis

Approved (phase 4): 1 · Phase ≥3: 1 · Phased (≥1): 1 · Undrugged: 8

Druggability breadth: 5 of 9 evidence-associated genes (56%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

Symbol	Example approved molecule
HBB	CANDESARTAN CILEXETIL

Top cohort targets by molecule count

Symbol	Molecules	Max phase
HBB	23	4
BCL11A	0	0
ACSBG1	0	0
HBBP1	0	0
HBD	0	0
HBE1	0	0
HBG2	0	0
HBS1L	0	0
MYB	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
CANDESARTAN CILEXETIL	4	HBB
MECHLORETHAMINE HYDROCHLORIDE	4	HBB
PHENAZOPYRIDINE HYDROCHLORIDE	4	HBB
MERCAPTOPURINE ANHYDROUS	4	HBB
AZACITIDINE	4	HBB
AZATHIOPRINE	4	HBB
TOPOTECAN HYDROCHLORIDE	4	HBB
ACYCLOVIR	4	HBB
FLUOROURACIL	4	HBB
RAUWOLFIA SERPENTINA	4	HBB
HYDROQUINONE	4	HBB
MENADIONE	4	HBB
THIOTEPA	4	HBB
THIOGUANINE	4	HBB
RESERPINE	4	HBB
CURCUMIN	3	HBB
HYDROXYCAMPTOTHECIN	3	HBB
MOLIBRESIB	2	HBB
FISETIN	2	HBB
TEROXIRONE	2	HBB
5-FLUOROURIDINE	2	HBB
ELLAGIC ACID	2	HBB
BAICALEIN	2	HBB

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
HBB	68	Binding:50, Functional:18
MYB	7	Binding:7
HBG2	1	Binding:1
HBS1L	1	Binding:1

Pharmacogenomics

Cohort genes with a PharmGKB record: 9; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

23 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Compound	Max phase	Cohort target (bioactivity)
CANDESARTAN CILEXETIL	4	HBB
MECHLORETHAMINE HYDROCHLORIDE	4	HBB
PHENAZOPYRIDINE HYDROCHLORIDE	4	HBB
MERCAPTOPURINE ANHYDROUS	4	HBB
AZACITIDINE	4	HBB
AZATHIOPRINE	4	HBB
TOPOTECAN HYDROCHLORIDE	4	HBB
ACYCLOVIR	4	HBB
FLUOROURACIL	4	HBB
RAUWOLFIA SERPENTINA	4	HBB
HYDROQUINONE	4	HBB
MENADIONE	4	HBB
THIOTEPA	4	HBB
THIOGUANINE	4	HBB
RESERPINE	4	HBB
CURCUMIN	3	HBB
HYDROXYCAMPTOTHECIN	3	HBB
MOLIBRESIB	2	HBB
FISETIN	2	HBB
TEROXIRONE	2	HBB
5-FLUOROURIDINE	2	HBB
ELLAGIC ACID	2	HBB
BAICALEIN	2	HBB

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	HBB
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	8	BCL11A, ACSBG1, HBBP1, HBD, HBE1, HBG2, HBS1L, MYB

Undrugged target profiles

8 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
BCL11A	0	—
ACSBG1	0	—
HBBP1	0	—
HBD	0	—
HBE1	0	—
HBG2	1	—
HBS1L	1	—
MYB	7	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.

Cohort genes: HBB, BCL11A, ACSBG1, HBD, HBE1, HBG2, HBS1L, MYB