Thalassemia

disease

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Also known as sickle-cell thalassemia with crisissickle-cell thalassemia without crisis

Summary

Thalassemia (MONDO:0000984) is a disease with 4 cohort genes (16 GWAS associations across 5 studies) and 134 clinical trials. The dominant Reactome pathway is Heme assimilation (3 cohort genes). Top therapeutic interventions include deferasirox, deferoxamine, and exagamglogene autotemcel.

At a glance

Cohort genes: 4
GWAS associations: 16
ClinVar variants: 10
Clinical trials: 134

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	thalassemia
Mondo ID	MONDO:0000984
EFO	EFO:1001996
MeSH	D013789
DOID	DOID:10241
ICD-10-CM	D56
NCIT	C35069
SNOMED CT	40108008
UMLS	C0039730
MedGen	21121
GARD	0007756
Is cancer (heuristic)	no

Also known as: sickle-cell thalassemia with crisis · sickle-cell thalassemia without crisis

Data availability: 10 ClinVar variants · 16 GWAS associations (5 studies) · 71 cell lines.

Disease family

An umbrella term covering 2 Mondo subtypes.

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

Subtypes (2): alpha thalassemia spectrum, beta thalassemia

Genetics & variants

GWAS landscape

16 GWAS associations across 5 studies. Top hits map to 0 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Risk allele	Odds ratio
chr11:5226994	1e-111	?	4.27
chr11:5226762	7e-79	?	4.35
chr11:5226774	6e-62	A	6.96
chr11:5643516	8e-33	?	1.82
chr11:5226975	5e-30	?	4.1
chr16:183527	9e-25	A	6.22
chr11:5226943	3e-24	?	1.3
chr11:5226930	2e-23	?	4.29
chr11:7089749	2e-19	?	3.58
chr16:3622090	2e-10	T	5.7
chr16:5774329	3e-09	G	4.99
chr8:46390783	2e-08	A	5.74
chr8:47496942	2e-08	C	5.76
chr8:50237098	2e-08	T	5.79
chr3:147845673	3e-08	C	4.65
chr11:5226925	inf	?	4.67

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90726703	Kim HI	2026	1,025	43,001	Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity.
GCST90727278	Kim HI	2026	352	43,674	Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity.
GCST90473123	UK Biobank Whole-Genome Sequencing Consortium	2025	237	458,203	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90667860	UK Biobank Whole-Genome Sequencing Consortium	2025	237	458,203	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90473124	UK Biobank Whole-Genome Sequencing Consortium	2025	211	9,402	Whole-genome sequencing of 490,640 UK Biobank participants.

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	16

MAF distribution

Bucket	Variants
common (>=0.05)	0
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	16

Functional consequences

Consequence	Count
unknown	16

Top variants

rsID	p-value	Tier
chr11:5226925		Tier 4: intronic/intergenic
chr11:5226994	1e-111	Tier 4: intronic/intergenic
chr11:5226762	7e-79	Tier 4: intronic/intergenic
chr11:5226774	6e-62	Tier 4: intronic/intergenic
chr11:5643516	8e-33	Tier 4: intronic/intergenic
chr11:5226975	5e-30	Tier 4: intronic/intergenic
chr16:183527	9e-25	Tier 4: intronic/intergenic
chr11:5226943	3e-24	Tier 4: intronic/intergenic
chr11:5226930	2e-23	Tier 4: intronic/intergenic
chr11:7089749	2e-19	Tier 4: intronic/intergenic
chr16:3622090	2e-10	Tier 4: intronic/intergenic
chr16:5774329	3e-09	Tier 4: intronic/intergenic
chr8:46390783	2e-08	Tier 4: intronic/intergenic
chr8:47496942	2e-08	Tier 4: intronic/intergenic
chr8:50237098	2e-08	Tier 4: intronic/intergenic
chr3:147845673	3e-08	Tier 4: intronic/intergenic

ClinVar germline variants

10 retrieved; paginated sample, class counts are floors:

8 uncertain significance, 1 conflicting classifications of pathogenicity, 1 pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
2428504	NM_000517.6(HBA2):c.130T>G (p.Phe44Val)	HBA2	Pathogenic	criteria provided, multiple submitters, no conflicts
15070	NM_000519.4(HBD):c.82G>T (p.Ala28Ser)	HBD	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
2775409	NM_000558.5(HBA1):c.*79C>A	HBA1	Uncertain significance	criteria provided, single submitter
2775407	NM_000517.4(HBA2):c.-157C>T	HBA2	Uncertain significance	criteria provided, single submitter
2775422	NM_000517.6(HBA2):c.*108G>A	HBA2	Uncertain significance	criteria provided, single submitter
1217302	NC_000011.10:g.5225284C>T	HBB	Uncertain significance	criteria provided, single submitter
2775404	NM_000518.4(HBB):c.-122T>C	HBB	Uncertain significance	criteria provided, single submitter
15066	NM_000519.4(HBD):c.349C>T (p.Arg117Cys)	HBD	Uncertain significance	criteria provided, single submitter
2775429	NM_000519.4(HBD):c.332T>C (p.Leu111Pro)	HBD	Uncertain significance	criteria provided, single submitter
632058	NM_000519.4(HBD):c.14C>T (p.Thr5Ile)	HBD	Uncertain significance	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 47 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
HBA1	Orphanet:163596	Hemoglobin Bart’s fetalis syndrome
HBA1	Orphanet:247511	Autosomal dominant secondary polycythemia
HBA1	Orphanet:330041	Hemoglobin M disease
HBA1	Orphanet:707789	Unstable alpha globin chain variant disease
HBA1	Orphanet:715143	Heterozygous beta-thalassemia intermedia with supernumerary alpha-globin gene
HBA1	Orphanet:93616	Hemoglobin H disease
HBA1	Orphanet:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
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
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
HBD	Orphanet:231237	Delta-beta-thalassemia
HBD	Orphanet:330032	Hemoglobin Lepore-beta-thalassemia syndrome
HBD	Orphanet:699822	Sickle cell S-Lepore disease

Cohort genes → proteins

4 cohort genes, 3 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	4

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
HBA1	HGNC:4823	ENSG00000206172	P69905	Hemoglobin subunit alpha	clinvar
HBA2	HGNC:4824	ENSG00000188536	P69905	Hemoglobin subunit alpha	clinvar
HBB	HGNC:4827	ENSG00000244734	P68871	Hemoglobin subunit beta	clinvar
HBD	HGNC:4829	ENSG00000223609	P02042	Hemoglobin subunit delta	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
HBA1	Hemoglobin subunit alpha	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.
HBB	Hemoglobin subunit beta	Involved in oxygen transport from the lung to the various peripheral tissues.
HBD	Hemoglobin subunit delta	Involved in oxygen transport from the lung to the various peripheral tissues.

Protein-family classification

Druggable: 0 · Difficult: 0 · Unknown: 4 · 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	4	1.8×	0.097

Per-gene assignment

Symbol	Family	Druggable?	InterPro (top 3)
HBA1	Other/Unknown	no	Globin, Hemoglobin_a-typ, Hemoglobin_pi
HBA2	Other/Unknown	no	Globin, Hemoglobin_a-typ, Hemoglobin_pi
HBB	Other/Unknown	no	Globin, Hemoglobin_b, Globin-like_sf
HBD	Other/Unknown	no	Globin, Hemoglobin_b, Globin-like_sf

Expression context

Cohort genes with no expression data: 0.

4 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)	4
unknown	0

Top tissues across cohort

Tissue	Cohort genes
monocyte	3
blood	2
bone marrow	2
trabecular bone tissue	2
bone element	1
vena cava	1
bone marrow cell	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
HBA1	133	tissue_specific	marker	monocyte, blood, bone marrow
HBA2	143	tissue_specific	marker	monocyte, blood, bone element
HBB	284	broad	marker	monocyte, trabecular bone tissue, vena cava
HBD	170	tissue_specific	marker	trabecular bone tissue, bone marrow, bone marrow cell

Protein interactions among cohort

Intra-cohort edges: 4.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
HBD	1,206
HBB	454
HBA1	434
HBA2	434

Intra-cohort edges

A	B	Sources
HBA1	HBA2	biogrid_interaction, intact
HBA1	HBB	intact
HBA1	HBD	intact
HBA2	HBB	intact

Structural data

PDB: 4 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
HBA1	P69905	356
HBA2	P69905	356
HBB	P68871	350
HBD	P02042	2

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 10. Enrichment computed across 4 evidence-associated genes (4 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 4 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Heme assimilation	3	2855.0×	2e-10	HBA1, HBA2, HBB
Erythrocytes take up oxygen and release carbon dioxide	3	951.7×	7e-09	HBA1, HBA2, HBB
Erythrocytes take up carbon dioxide and release oxygen	3	658.9×	1e-08	HBA1, HBA2, HBB
Scavenging of heme from plasma	3	658.9×	1e-08	HBA1, HBA2, HBB
Heme signaling	3	161.6×	8e-07	HBA1, HBA2, HBB
Cytoprotection by HMOX1	3	138.2×	1e-06	HBA1, HBA2, HBB
Factors involved in megakaryocyte development and platelet production	2	33.2×	0.002	HBB, HBD
Chaperone Mediated Autophagy	1	124.1×	0.010	HBB
Late endosomal microautophagy	1	81.6×	0.014	HBB
Neutrophil degranulation	1	5.8×	0.162	HBB

GO biological processes by enrichment

GO term	Cohort genes	Fold	FDR	Sample cohort genes
carbon dioxide transport	4	1296.3×	3e-12	HBA1, HBA2, HBB, HBD
oxygen transport	4	1053.2×	4e-12	HBA1, HBA2, HBB, HBD
erythrocyte development	4	526.6×	5e-11	HBA1, HBA2, HBB, HBD
nitric oxide transport	3	2527.8×	2e-10	HBA1, HBA2, HBB
cellular oxidant detoxification	3	1404.3×	1e-09	HBA1, HBA2, HBB
hydrogen peroxide catabolic process	3	505.6×	2e-08	HBA1, HBA2, HBB
response to hydrogen peroxide	3	351.1×	7e-08	HBA1, HBA2, HBB
inflammatory response	3	28.3×	1e-04	HBA1, HBA2, HBB
renal absorption	1	421.3×	0.003	HBB
blood vessel diameter maintenance	1	156.0×	0.008	HBB
positive regulation of nitric oxide biosynthetic process	1	113.9×	0.010	HBB
platelet aggregation	1	84.3×	0.013	HBB
regulation of blood pressure	1	55.4×	0.018	HBB

Therapeutics

Drugs indicated or in trials for this disease

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

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

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

Drug	Highest phase
Deferasirox	Phase 3
Alemtuzumab	Phase 2
Amlodipine	Phase 2
Busulfan	Phase 2
Decitabine	Phase 2
Fludarabine	Phase 2
Glutamine	Phase 2
Hydroxyurea	Phase 2
Melphalan	Phase 2
Mitapivat	Phase 2
Phenytoin	Phase 2
Thalidomide	Phase 2
Zinc Ion	Phase 2

Drug target analysis

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

Druggability breadth: 3 of 4 evidence-associated genes (75%) 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
HBA1	0	0
HBA2	0	0
HBD	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
HBA1	59	Binding:46, Functional:13
HBA2	59	Binding:46, Functional:13

Pharmacogenomics

Cohort genes with a PharmGKB record: 4; 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	3	HBA1, HBA2, HBD

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
HBA1	59	HBB
HBA2	59	HBB
HBD	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 134.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	63
PHASE2	28
PHASE4	11
PHASE1	10
PHASE1/PHASE2	7
PHASE2/PHASE3	6
PHASE3	6
EARLY_PHASE1	3

Top trials by phase / activity

NCT	Phase	Status	Title
NCT02386800	PHASE4	ACTIVE_NOT_RECRUITING	CINC424A2X01B Rollover Protocol
NCT00346242	PHASE4	COMPLETED	Evaluation of Efficacy of Zoledronic Acid in Patients With Haemoglobin Syndromes (Thalassemia and Sicle Cell Anaemia) and Risk of Skeletal Events
NCT00707850	PHASE4	COMPLETED	Pegasys® Plus Ribavirin in Thalassemic Patients With Hepatitis C Virus Infection
NCT01250951	PHASE4	COMPLETED	This Study Will Evaluate Efficacy and Safety of Deferasirox in Patients With Myelodysplastic Syndromes (MDS), Thalassemia and Rare Anemia Types Having Transfusion-induced Iron Overload.
NCT02069886	PHASE4	WITHDRAWN	Effect of Deferasirox on Endocrine Complications in Subjects With Transfusion Dependent Thalassemia
NCT03032666	PHASE4	COMPLETED	Sofosbuvir/Ledipasvir for Hepatitis C Genotype 1-6 in Patients With Transfusion-Dependent Thalassemia: An Open Label Trial
NCT03095326	PHASE4	COMPLETED	Pneumococcal Vaccination for Splenectomised Thalassemia Major Patients in Indonesia
NCT03117192	PHASE4	COMPLETED	Zinc Supplementation on Cellular Immunity in Thalassemia Major
NCT03374111	PHASE4	UNKNOWN	Colla Corii Asini Treating Anemia in Pregnant Women With Thalassemia(Presenting the Syndrome of Blood Deficiency)
NCT03392298	PHASE4	UNKNOWN	Study on the Mechanism of Colla Corri Asini in the Treatment of Thalassemia Patients With Pregnancy Anemia
NCT03402191	PHASE4	UNKNOWN	L-arginine Versus Sildenafil in Children With Beta Thalassemia Associated With Pulmonary Hypertension
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
NCT06609226	PHASE3	RECRUITING	A Research Study Looking at Long-term Treatment With Etavopivat in People With Sickle Cell Disease or Thalassaemia
NCT00176852	PHASE2/PHASE3	COMPLETED	Stem Cell Transplant for Hemoglobinopathy
NCT00235391	PHASE3	COMPLETED	Expanded Access of Deferasirox to Patients With Congenital Disorders of Red Blood Cells and Chronic Iron Overload
NCT00872170	PHASE2/PHASE3	COMPLETED	Sildenafil to Improve Exercise Capacity in People With Thalassemia and Pulmonary Hypertension
NCT01395199	PHASE3	COMPLETED	Amlodipine in the Prevention and Treatment of Iron Overload in Patients With Thalassemia Major
NCT02065492	PHASE2/PHASE3	COMPLETED	Amlodipine for Myocardial Iron in Thalassemia
NCT03651102	PHASE2/PHASE3	COMPLETED	Efficacy and Safety of Low Dose Thalidomide in Transfusion Dependent Thalassemia
NCT03655678	PHASE2/PHASE3	COMPLETED	A Safety and Efficacy Study Evaluating CTX001 in Participants With Transfusion-Dependent β-Thalassemia
NCT07210450	PHASE2/PHASE3	COMPLETED	Effect of L-Glutamine on Pulmonary Artery Pressure in Patients With Non-Transfusion-Dependent Thalassemia
NCT02105766	PHASE2	ACTIVE_NOT_RECRUITING	Nonmyeloablative Peripheral Blood Mobilized Hematopoietic Precursor Cell Transplantation for Sickle Cell Disease and Beta-thalassemia in People With Higher Risk of Transplant Failure
NCT03692052	PHASE2	ACTIVE_NOT_RECRUITING	A Study to Determine the Efficacy, Safety, Pharmacokinetics, and Pharmacodynamics of AG-348 in Adult Participants With Non-transfusion-dependent Thalassemia
NCT05736419	PHASE2	RECRUITING	A Study of Immune Suppression Treatment for People With Sickle Cell Disease or β-Thalassemia Who Are Going to Receive an Allogeneic Hematopoietic Cell Transplantation (HCT)
NCT07579949	PHASE2	NOT_YET_RECRUITING	A Study of SNH-119014 in Adult Participants With Non-transfusion-dependent Thalassemia (NTDT)
NCT00000588	PHASE2	COMPLETED	Chelation Therapy of Iron Overload With Pyridoxal Isonicotinoyl Hydrazone
NCT00000595	PHASE2	COMPLETED	Evaluation of Subcutaneous Desferrioxamine as Treatment for Transfusional Hemochromatosis
NCT00034528	PHASE2	TERMINATED	Stem Cell Transplantation After Reduced-Dose Chemotherapy for Patients With Sickle Cell Disease or Thalassemia
NCT00040417	PHASE2	TERMINATED	Bone Marrow Transplant From Donor Using Less Toxic Conditioning for Patient With High Risk Hemoglobinopathies
NCT00040469	PHASE2	TERMINATED	Bone Marrow Transplant From Related Donor for Patients With High Risk Hemoglobinopathies
NCT00125788	PHASE2	COMPLETED	L-Glutamine Therapy for Sickle Cell Anemia and Sickle ß0 Thalassemia
NCT00153985	PHASE2	COMPLETED	Allogeneic Stem Cell Transplantation Following Chemotherapy in Patients With Hemoglobinopathies
NCT00502788	PHASE2	COMPLETED	Evaluating the Safety of Two Medications to Treat Hepatitis C in People With Thalassemia (The HepC Study)
NCT00586209	PHASE2	TERMINATED	L-Glutamine Therapy for Sickle Cell Anemia
NCT00661726	PHASE2	COMPLETED	Evaluating the Safety and Effectiveness of Decitabine in People With Thalassemia Intermedia
NCT00730314	PHASE1/PHASE2	COMPLETED	Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells
NCT00738413	PHASE1/PHASE2	UNKNOWN	Iron Balance Study of Deferasirox, Deferoxamine and the Combination of Both
NCT00901199	PHASE2	COMPLETED	Combined Chelation Therapy in Patients With Transfusion Dependent Thalassemia and Iron Overload

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
DEFERASIROX	4	6
DEFEROXAMINE	4	5
EXAGAMGLOGENE AUTOTEMCEL	4	4
GLUTAMINE	4	4
SILDENAFIL	4	3
ZOLEDRONIC ACID ANHYDROUS	4	3
PENTOSTATIN	4	2
PHENYTOIN	4	2
ALEFACEPT	4	1
ALEMTUZUMAB	4	1
BUSULFAN	4	1
DEFERIPRONE	4	1
FLUDARABINE PHOSPHATE	4	1
HYDROXYUREA	4	1
LUSPATERCEPT	4	1
MITAPIVAT	4	1
NIFEDIPINE	4	1
PANOBINOSTAT	4	1
RITUXIMAB	4	1
RUXOLITINIB	4	1
SOFOSBUVIR	4	1
THALIDOMIDE	4	1
VELPATASVIR	4	1
ZINC SULFATE	4	1
ARGININE	3	2
ZINC ION	3	2
FLUDARABINE	3	1
SYRUP	3	1
ETAVOPIVAT	2	3
RIMIDUCID	2	2

Cohort genes: HBA1, HBA2, HBB, HBD
Drugs: Deferasirox, Deferoxamine, Exagamglogene Autotemcel, Glutamine, Sildenafil, Zoledronic Acid, Pentostatin, Phenytoin, Alefacept, Alemtuzumab, Busulfan, Deferiprone, Fludarabine Phosphate, Hydroxyurea, Luspatercept, Mitapivat, Nifedipine, Panobinostat, Rituximab, Ruxolitinib, Sofosbuvir, Thalidomide, Velpatasvir, Zinc, Arginine, Zinc Ion, Fludarabine, Syrup