Beta thalassemia

Summary

Beta thalassemia (MONDO:0019402) is a disease caused by HBB (GenCC Definitive), with 2 cohort genes and 105 clinical trials. Top therapeutic interventions include deferasirox, deferoxamine, and deferiprone.

At a glance

• Prevalence: 1-9 / 1 000 000 (France) [Orphanet-validated]
• Causal gene: HBB (GenCC Definitive)
• Cohort genes: 2
• ClinVar variants: 438
• Phenotypes (HPO): 21
• Clinical trials: 105

Clinical features

Epidemiology

Prevalence records

4 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Annual incidence	1-9 / 100 000	1	Worldwide	Validated
Annual incidence	1-5 / 10 000	10	Europe	Validated
Point prevalence	1-9 / 1 000 000	0.5	France	Validated
Point prevalence	1-9 / 1 000 000		Europe	Not yet validated

Signs & symptoms

Clinical features (HPO)

21 HPO clinical features (Orphanet curated; top 21 by frequency):

HPO ID	Term	Frequency
HP:0000924	Abnormality of the skeletal system	Very frequent (80-99%)
HP:0000980	Pallor	Very frequent (80-99%)
HP:0001744	Splenomegaly	Very frequent (80-99%)
HP:0001903	Anemia	Very frequent (80-99%)
HP:0001935	Microcytic anemia	Very frequent (80-99%)
HP:0011902	Abnormal hemoglobin	Very frequent (80-99%)
HP:0000044	Hypogonadotropic hypogonadism	Frequent (30-79%)
HP:0000737	Irritability	Frequent (30-79%)
HP:0000929	Abnormal skull morphology	Frequent (30-79%)
HP:0001324	Muscle weakness	Frequent (30-79%)
HP:0002093	Respiratory insufficiency	Frequent (30-79%)
HP:0002240	Hepatomegaly	Frequent (30-79%)
HP:0004349	Reduced bone mineral density	Frequent (30-79%)
HP:0004370	Abnormality of temperature regulation	Frequent (30-79%)
HP:0011031	Abnormality of iron homeostasis	Frequent (30-79%)
HP:0001081	Cholelithiasis	Occasional (5-29%)
HP:0001639	Hypertrophic cardiomyopathy	Occasional (5-29%)
HP:0001873	Thrombocytopenia	Occasional (5-29%)
HP:0004936	Venous thrombosis	Occasional (5-29%)
HP:0012115	Hepatitis	Occasional (5-29%)
HP:0200042	Skin ulcer	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	beta thalassemia
Mondo ID	MONDO:0019402
MeSH	D017086
Orphanet	848
DOID	DOID:12241
ICD-10-CM	D56.1
ICD-11	2063292324
NCIT	C34375
SNOMED CT	65959000
UMLS	C0005283
MedGen	2611
GARD	0000871
MedDRA	10043391
NORD	1765
Is cancer (heuristic)	no

Also known as: Beta thalassemia intermedia · Beta thalassemia minor · erythroblastic anaemia · erythroblastic anemia · thalassemia, Hispanic gamma-delta-beta · Thalassemias, beta-

Data availability: 438 ClinVar variants · 1 GenCC gene-disease record · 73 cell lines.

Disease family

An umbrella term covering 3 Mondo subtypes.

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › inherited hemoglobinopathy › thalassemia › beta thalassemia

Related subtypes (1): alpha thalassemia spectrum

Subtypes (3): thalassemia, beta+, silent allele, dominant beta-thalassemia, beta-thalassemia HBB/LCRB

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

438 retrieved; paginated sample, class counts are floors:

213 pathogenic, 56 uncertain significance, 51 pathogenic/likely pathogenic, 40 conflicting classifications of pathogenicity, 32 likely pathogenic, 19 likely benign, 14 benign, 5 benign/likely benign, 3 uncertain significance; other, 3 not provided, 1 pathogenic/likely pathogenic; other, 1 pathogenic; other

ClinVar	Variant (HGVS)	Gene	Classification	Review
869111	NM_000518.4(HBB):c.[316-12T>C;316-7C>A]		Pathogenic	criteria provided, single submitter
869313	NM_000518.5(HBB):c.[385_388delinsCCACA;397_407del]		Pathogenic	no assertion criteria provided
869324	NM_000518.5(HBB):c.[17del;9dup]		Pathogenic	no assertion criteria provided
15626	NM_000517.4(HBA2):c.427T>A (p.Ter143Lys)	HBA2	Pathogenic	criteria provided, multiple submitters, no conflicts
1048666	NC_000011.10:g.5224303_5227790del	HBB	Pathogenic	no assertion criteria provided
1459872	NM_000518.5(HBB):c.380_396del (p.Val127fs)	HBB	Pathogenic	criteria provided, multiple submitters, no conflicts
15090	NM_000518.5(HBB):c.431A>G (p.His144Arg)	HBB	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
15126	NM_000518.4(HBB):c.19G>A (p.Glu7Lys)	HBB	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
15147	NM_000518.4(HBB):c.269G>A (p.Ser90Asn)	HBB	Pathogenic/Likely pathogenic; other	no assertion criteria provided
15152	NM_000518.4(HBB):c.364G>C (p.Glu122Gln)	HBB	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
15161	NM_000518.5(HBB):c.79G>A (p.Glu27Lys)	HBB	Pathogenic	criteria provided, multiple submitters, no conflicts
15190	NM_000518.5(HBB):c.128T>C (p.Phe43Ser)	HBB	Pathogenic	criteria provided, multiple submitters, no conflicts
15234	NM_000518.4(HBB):c.92G>C (p.Arg31Thr)	HBB	Pathogenic	criteria provided, multiple submitters, no conflicts
15239	NM_000518.5(HBB):c.82G>T (p.Ala28Ser)	HBB	Pathogenic	criteria provided, multiple submitters, no conflicts
15241	NM_000518.5(HBB):c.295G>A (p.Val99Met)	HBB	Pathogenic	criteria provided, multiple submitters, no conflicts
15256	NM_000518.5(HBB):c.190C>T (p.His64Tyr)	HBB	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
15258	NM_000518.5(HBB):c.59A>G (p.Asn20Ser)	HBB	Pathogenic	criteria provided, multiple submitters, no conflicts
15292	NM_000518.4(HBB):c.364G>A (p.Glu122Lys)	HBB	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
15333	NM_000518.5(HBB):c.20A>T (p.Glu7Val)	HBB	Pathogenic	criteria provided, multiple submitters, no conflicts
15342	NM_000518.5(HBB):c.328G>A (p.Val110Met)	HBB	Pathogenic	criteria provided, multiple submitters, no conflicts
15352	NM_000518.4(HBB):c.332T>C (p.Leu111Pro)	HBB	Pathogenic	criteria provided, multiple submitters, no conflicts
15401	NM_000518.5(HBB):c.52A>T (p.Lys18Ter)	HBB	Pathogenic	criteria provided, multiple submitters, no conflicts
15402	NM_000518.5(HBB):c.118C>T (p.Gln40Ter)	HBB	Pathogenic	criteria provided, multiple submitters, no conflicts
15404	NM_000518.5(HBB):c.364G>T (p.Glu122Ter)	HBB	Pathogenic	criteria provided, multiple submitters, no conflicts
15405	NM_000518.5(HBB):c.114G>A (p.Trp38Ter)	HBB	Pathogenic	criteria provided, multiple submitters, no conflicts
15407	NM_000518.5(HBB):c.184A>T (p.Lys62Ter)	HBB	Pathogenic	criteria provided, multiple submitters, no conflicts
15408	NM_000518.5(HBB):c.108C>A (p.Tyr36Ter)	HBB	Pathogenic	criteria provided, multiple submitters, no conflicts
15413	NM_000518.5(HBB):c.25_26del (p.Lys9fs)	HBB	Pathogenic	criteria provided, multiple submitters, no conflicts
15414	NM_000518.5(HBB):c.51del (p.Lys18fs)	HBB	Pathogenic	criteria provided, multiple submitters, no conflicts
15415	NM_000518.5(HBB):c.135del (p.Phe46fs)	HBB	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 33 · Orphanet: 37 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

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	Definitive	Semidominant	beta-thalassemia HBB/LCRB	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
HBA2	Orphanet:163596	Hemoglobin Bart’s fetalis syndrome
HBA2	Orphanet:247511	Autosomal dominant secondary polycythemia
HBA2	Orphanet:330041	Hemoglobin M disease
HBA2	Orphanet:707789	Unstable alpha globin chain variant disease
HBA2	Orphanet:715143	Heterozygous beta-thalassemia intermedia with supernumerary alpha-globin gene
HBA2	Orphanet:715154	Low oxygen affinity alpha chain hemoglobin disease
HBA2	Orphanet:93616	Hemoglobin H disease
HBA2	Orphanet:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16

Cohort genes → proteins

2 cohort genes, 2 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	2

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
HBB	HGNC:4827	ENSG00000244734	P68871	Hemoglobin subunit beta	gencc,clinvar
HBA2	HGNC:4824	ENSG00000188536	P69905	Hemoglobin subunit alpha	clinvar

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.
HBA2	Hemoglobin subunit alpha	Involved in oxygen transport from the lung to the various peripheral tissues.

Protein-family classification

Druggable: 0 · Difficult: 0 · Unknown: 2 · 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
Other/Unknown	2	1.8×	0.312

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
HBB	Other/Unknown	no		Globin, Hemoglobin_b, Globin-like_sf
HBA2	Other/Unknown	no		Globin, Hemoglobin_a-typ, Hemoglobin_pi

Expression context

Cohort genes with no expression data: 0.

2 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)	2
unknown	0

Top tissues across cohort

Tissue	Cohort genes
monocyte	2
trabecular bone tissue	1
vena cava	1
blood	1
bone element	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
HBA2	143	tissue_specific	marker	monocyte, blood, bone element

Protein interactions among cohort

Intra-cohort edges: 1.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
HBB	454
HBA2	434

Intra-cohort edges

A	B	Sources
HBA2	HBB	intact

Structural data

PDB: 2 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
HBA2	P69905	356
HBB	P68871	350

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 10. Enrichment computed across 2 evidence-associated genes (2 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 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Heme assimilation	2	3806.7×	5e-07	HBB, HBA2
Erythrocytes take up oxygen and release carbon dioxide	2	1268.9×	3e-06	HBB, HBA2
Erythrocytes take up carbon dioxide and release oxygen	2	878.5×	3e-06	HBB, HBA2
Scavenging of heme from plasma	2	878.5×	3e-06	HBB, HBA2
Heme signaling	2	215.5×	4e-05	HBB, HBA2
Cytoprotection by HMOX1	2	184.2×	5e-05	HBB, HBA2
Chaperone Mediated Autophagy	1	248.3×	0.006	HBB
Late endosomal microautophagy	1	163.1×	0.008	HBB
Factors involved in megakaryocyte development and platelet production	1	33.2×	0.033	HBB
Neutrophil degranulation	1	11.5×	0.085	HBB

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
nitric oxide transport	2	3370.4×	9e-07	HBB, HBA2
cellular oxidant detoxification	2	1872.4×	2e-06	HBB, HBA2
carbon dioxide transport	2	1296.3×	2e-06	HBB, HBA2
oxygen transport	2	1053.2×	3e-06	HBB, HBA2
hydrogen peroxide catabolic process	2	674.1×	5e-06	HBB, HBA2
erythrocyte development	2	526.6×	8e-06	HBB, HBA2
response to hydrogen peroxide	2	468.1×	8e-06	HBB, HBA2
inflammatory response	2	37.7×	0.001	HBB, HBA2
renal absorption	1	842.6×	0.002	HBB
blood vessel diameter maintenance	1	312.1×	0.004	HBB
positive regulation of nitric oxide biosynthetic process	1	227.7×	0.005	HBB
platelet aggregation	1	168.5×	0.006	HBB
regulation of blood pressure	1	110.9×	0.009	HBB

Therapeutics

Drugs indicated or in trials for this disease

5 approved drugs — disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Status
Betibeglogene Autotemcel	Approved (phase 4)
Deferasirox	Approved (phase 4)
Deferiprone	Approved (phase 4)
Exagamglogene Autotemcel	Approved (phase 4)
Luspatercept	Approved (phase 4)

20 drugs in clinical trials for this disease (phase 2–3, investigational): efficacy not established — a trial record, not an indication.

Drug	Highest phase
Blood Cells, Red	Phase 3
Deferoxamine	Phase 3
Mitapivat	Phase 3
Sildenafil	Phase 3
Thalidomide	Phase 3
Alemtuzumab	Phase 2
Amlodipine	Phase 2
Ascorbic Acid	Phase 2
Azacitidine	Phase 2
Bitopertin	Phase 2
Busulfan	Phase 2
Epoetin Alfa	Phase 2
Fludarabine	Phase 2
Hydroxyurea	Phase 2
Levocarnitine	Phase 2
Metoprolol	Phase 2
Phenylbutanoic Acid	Phase 2
Ruxolitinib	Phase 2
Sirolimus	Phase 2
Sotatercept	Phase 2

Drug target analysis

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

Druggability breadth: 2 of 2 evidence-associated genes (100%) 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
HBA2	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
HBA2	59	Binding:46, Functional:13

Pharmacogenomics

Cohort genes with a PharmGKB record: 2; with CPIC/DPWG dosing guidelines: 0.

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

Chemical tractability of cohort targets

22 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
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	1	HBA2

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
HBA2	59	HBB

Clinical trials & evidence

Clinical trials

Clinical trials: 105.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	40
PHASE2	30
PHASE3	10
PHASE1/PHASE2	10
PHASE1	5
PHASE4	4
PHASE2/PHASE3	3
EARLY_PHASE1	3

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00103753	PHASE4	UNKNOWN	Combined Chelation Treatment With Deferiprone and Deferoxamine in Thalassemia Major
NCT00564941	PHASE4	COMPLETED	Evaluating the Efficacy of Deferasirox in Transfusion Dependent Chronic Anaemias (Myelodysplastic Syndrome, Beta-thalassaemia Patients) With Chronic Iron Overload
NCT00733811	PHASE4	COMPLETED	Efficacy Study of the Use of Sequential DFP-DFO Versus DFP
NCT03961828	PHASE4	COMPLETED	Hyalornic Acid Level in β-Thalassemic Children Treated for Hepatitis C Virus
NCT04064060	PHASE3	RECRUITING	A Study to Evaluate Long-term Safety in Participants Who Have Participated in Other Luspatercept (ACE-536) Clinical Trials
NCT04208529	PHASE3	ENROLLING_BY_INVITATION	A Long-term Follow-up Study in Participants Who Received CTX001
NCT05356195	PHASE3	ACTIVE_NOT_RECRUITING	Evaluation of Safety and Efficacy of CTX001 in Pediatric Participants With Transfusion-Dependent β-Thalassemia (TDT)
NCT05477563	PHASE3	RECRUITING	Evaluation of Efficacy and Safety of a Single Dose of CTX001 in Participants With Transfusion-Dependent β-Thalassemia and Severe Sickle Cell Disease
NCT07157722	PHASE3	NOT_YET_RECRUITING	Evaluating the Effect of N-Acetyl Cysteine and Alpha Lipoic Acid in Patients With Beta Thalassemia
NCT00061750	PHASE3	COMPLETED	Safety & Efficacy of ICL670 vs. Deferoxamine in Beta-thalassemia Patients With Iron Overload Due to Blood Transfusions
NCT00171171	PHASE3	COMPLETED	A Study of Long-term Treatment With Deferasirox in Patients With Beta-thalassemia and Transfusional Hemosiderosis
NCT01016093	PHASE2/PHASE3	UNKNOWN	Zoledronic Acid for the Prevention of Bone Loss Post-bone Marrow Transplantation for Thalassemia Major Patients
NCT02604433	PHASE3	COMPLETED	An Efficacy and Safety Study of Luspatercept (ACE-536) Versus Placebo in Adults Who Require Regular Red Blood Cell Transfusions Due to Beta (β) Thalassemia
NCT02906202	PHASE3	COMPLETED	A Study Evaluating the Efficacy and Safety of the LentiGlobin® BB305 Drug Product in Participants With Transfusion-Dependent β-Thalassemia, Who do Not Have a β0/β0 Genotype
NCT03207009	PHASE3	COMPLETED	A Study Evaluating the Efficacy and Safety of the LentiGlobin® BB305 Drug Product in Participants With Transfusion-Dependent β-Thalassemia
NCT03655678	PHASE2/PHASE3	COMPLETED	A Safety and Efficacy Study Evaluating CTX001 in Participants With Transfusion-Dependent β-Thalassemia
NCT03728543	PHASE2/PHASE3	UNKNOWN	the Efficacy and Safety of Sugammadex in Children 0-2 Years Old
NCT00408447	PHASE2	ACTIVE_NOT_RECRUITING	Stem Cell Transplant in Sickle Cell Disease and Thalassemia
NCT04099966	PHASE2	RECRUITING	AlloSCT for Malignant and Non-malignant Hematologic Diseases Utilizing Alpha/Beta T Cell and CD19+ B Cell Depletion
NCT04143724	PHASE2	RECRUITING	Study of Safety & PK of Luspatercept (ACE-536) in Pediatric Participants With Beta (β)-Thalassemia
NCT04432623	PHASE1/PHASE2	ENROLLING_BY_INVITATION	The BENeFiTS Trial in Beta Thalassemia Intermedia
NCT05357482	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Addition of JSP191 (C-kit Antibody) to Nonmyeloablative Hematopoietic Cell Transplantation for Sickle Cell Disease and Beta-Thalassemia
NCT05567458	PHASE2	ACTIVE_NOT_RECRUITING	A Study to Evaluate Luspatercept (ACE-536) in Chinese Participants Who Require Regular Red Blood Cell Transfusions Due to Beta (β)-Thalassemia.
NCT05577312	PHASE1/PHASE2	ENROLLING_BY_INVITATION	Safety and Efficacy Evaluation of BRL-101 in Subjects With Transfusion-Dependent β-Thalassemia
NCT06308159	PHASE1/PHASE2	RECRUITING	An Open-label Study of a Gene Therapy Product (Vebeglogene Autotemcel) in Transfusion Dependent Beta-Thalassemia
NCT06364774	PHASE1/PHASE2	RECRUITING	ALS20-101 Lentiviral Gene Therapy for Beta Thalassemia
NCT06490601	PHASE2	ACTIVE_NOT_RECRUITING	Long Term Beta Thalassemia Treatment: Findings From The Extension Period
NCT07599176	PHASE1/PHASE2	RECRUITING	Partial Stem Cell Transplant for Sickle Cell Disease From Matched Donors
NCT00000588	PHASE2	COMPLETED	Chelation Therapy of Iron Overload With Pyridoxal Isonicotinoyl Hydrazone
NCT00000595	PHASE2	COMPLETED	Evaluation of Subcutaneous Desferrioxamine as Treatment for Transfusional Hemochromatosis
NCT00001958	PHASE2	COMPLETED	Hydroxyurea to Treat Beta-Thalassemia (Cooley’s Anemia)
NCT00005934	PHASE2	COMPLETED	5-Azacytidine and Phenylbutyrate to Treat Severe Thalassemia
NCT00006136	PHASE2	COMPLETED	Phase II Study of Arginine Butyrate With or Without Epoetin Alfa in Patients With Thalassemia Intermedia
NCT00029380	PHASE2	COMPLETED	Cord Blood Transplantation for Sickle Cell Anemia and Thalassemia
NCT00061763	PHASE2	COMPLETED	Study of Deferasirox in Iron Overload From Beta-thalassemia Unable to be Treated With Deferoxamine or Chronic Anemias
NCT00069862	PHASE1/PHASE2	COMPLETED	Iron Balance Study of DFO and GT56-252 in Patients With Transfusional Iron Overload Secondary to Beta-Thalassemia
NCT00115349	PHASE2	TERMINATED	Combination Therapy Compared With Single-Drug Therapy in Patients With Cardiac Diseases
NCT00447694	PHASE2	COMPLETED	Cardiac T2* in Beta-thalassemia Patients on Deferasirox Treatment
NCT00790127	PHASE1/PHASE2	COMPLETED	Phase 1/2 Study of HQK-1001 in Patients With Beta Thalassemia
NCT01049854	PHASE2	COMPLETED	CD34+Selection for Partially Matched Family or Matched Unrelated Adult Donor Transplant

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
DEFERASIROX	4	7
DEFEROXAMINE	4	7
DEFERIPRONE	4	5
LUSPATERCEPT	4	5
EXAGAMGLOGENE AUTOTEMCEL	4	4
PLERIXAFOR	4	2
ALEMTUZUMAB	4	1
AZACITIDINE	4	1
EPOETIN ALFA	4	1
HYDROXYUREA	4	1
PROTEIN C CONCENTRATE (HUMAN)	4	1
SOTATERCEPT	4	1
VITAMIN E	4	1
ZOLEDRONIC ACID ANHYDROUS	4	1
ARGININE	3	1
BITOPERTIN	3	1
DIMEBUTIC ACID	2	5
DEFERITAZOLE	2	4
SP-420	2	2
ARGININE BUTYRATE	2	1
BRIQUILIMAB	2	1
DEFERITRIN	2	1
SAPABLURSEN	2	1
CHEMBL4635234	0	4
CHEMBL267484	0	1
ARACHIDONIC ACID	-1	1