Disease · MONDO_0016486

beta-thalassemia major

6 sourcesdiseases-2026-09-18-0.1.0

Cite this record

ConductScience Library. beta-thalassemia major. Diseases, record MONDO_0016486. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0016486

On this page

Disease

Names and IDs as Open Targets gives them. Its IDs in MeSH, Orphanet, the Disease Ontology and the NCI Thesaurus are those Open Targets states for it.

Name: beta-thalassemia major; Open Targets
Open Targets ID: MONDO_0016486; Open Targets
Other names: Cooley anaemia, Cooley anemia, Cooley's Anaemia, Cooley's Anemia, Mediterranean anaemia, Mediterranean anemia; Open Targets
Disease Ontology: DOID:0080771; Disease Ontology
NCI Thesaurus: C129699; NCI Thesaurus
Orphanet: ORPHA:231214; Orphanet
Highest stage of its drugs: Phase 3, for 2 of its 27 drugs, from ClinicalTrials.gov; Open Targets

Drugs27

The drugs Open Targets' clinical reports study for the disease, the highest stage first, then the most trial reports. The stage is Open Targets', the highest any of its sources reports for the pair, and each row names the sources that report it.

Drug	ChEMBL ID	Type	Open Targets' stage	Stage reported by	Reports	Of them trials	Trials shown here	Source
LEDIPASVIR	CHEMBL2374220	Small molecule	Phase 3	ClinicalTrials.gov	1	1	1	Drugs and targets
SOFOSBUVIR	CHEMBL1259059	Small molecule	Phase 3	ClinicalTrials.gov	1	1	1	Drugs and targets
DEFERASIROX	CHEMBL550348	Small molecule	Phase 2/3	ClinicalTrials.gov	4	4	4	Drugs and targets
DEFEROXAMINE	CHEMBL556	Small molecule	Phase 2/3	ClinicalTrials.gov	3	3	3	Drugs and targets
AMLODIPINE	CHEMBL1491	Small molecule	Phase 2/3	ClinicalTrials.gov	2	2	2	Drugs and targets
DEFERIPRONE	CHEMBL70927	Small molecule	Phase 2/3	ClinicalTrials.gov	2	2	2	Drugs and targets
SILYMARIN	CHEMBL4630684		Phase 2/3	ClinicalTrials.gov	2	2	2	Drugs and targets
HYDROXYUREA	CHEMBL467	Small molecule	Phase 2	ClinicalTrials.gov	3	3	3	Drugs and targets
LUSPATERCEPT	CHEMBL3039545	Protein	Phase 2	ClinicalTrials.gov	2	2	2	Drugs and targets
THALIDOMIDE	CHEMBL468	Small molecule	Phase 2	ClinicalTrials.gov	2	2	2	Drugs and targets

1 to 10 of 27

See all 27 drugs

Targets22

The targets ChEMBL's mechanism records give for the disease's drugs, through Open Targets, the most drugs first. A mechanism record says what a drug acts on, not that the target causes the disease.

Target	Protein	Its drugs that act on it	Mechanisms	Highest stage of those drugs	Gene in Genes	Source
CSF3R	Granulocyte colony-stimulating factor receptor	3	Granulocyte colony stimulating factor receptor agonist	Unknown	https://conductscience.org/library/genes/1441	Drugs and targets
CACNA1C	Voltage-gated L-type calcium channel	1	Voltage-gated L-type calcium channel blocker	Phase 2/3	https://conductscience.org/library/genes/775	Drugs and targets
CACNA1D	Voltage-gated L-type calcium channel	1	Voltage-gated L-type calcium channel blocker	Phase 2/3	https://conductscience.org/library/genes/776	Drugs and targets
CACNA1F	Voltage-gated L-type calcium channel	1	Voltage-gated L-type calcium channel blocker	Phase 2/3	https://conductscience.org/library/genes/778	Drugs and targets
CACNA1S	Voltage-gated L-type calcium channel	1	Voltage-gated L-type calcium channel blocker	Phase 2/3	https://conductscience.org/library/genes/779	Drugs and targets
CD52	CAMPATH-1 antigen	1	CAMPATH-1 antigen inhibitor	Phase 1/2	https://conductscience.org/library/genes/1043	Drugs and targets
CRBN	CRL4(CRBN) E3 ubiquitin ligase	1	CRL4(CRBN) E3 ubiquitin ligase inhibitor	Phase 2	https://conductscience.org/library/genes/51185	Drugs and targets
CUL4A	CRL4(CRBN) E3 ubiquitin ligase	1	CRL4(CRBN) E3 ubiquitin ligase inhibitor	Phase 2	https://conductscience.org/library/genes/8451	Drugs and targets
CXCR4	C-X-C chemokine receptor type 4	1	C-X-C chemokine receptor type 4 partial agonist	Unknown	https://conductscience.org/library/genes/7852	Drugs and targets
DDB1	CRL4(CRBN) E3 ubiquitin ligase	1	CRL4(CRBN) E3 ubiquitin ligase inhibitor	Phase 2	https://conductscience.org/library/genes/1642	Drugs and targets

1 to 10 of 22

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Trials20

Trials an Open Targets clinical report links to the disease, posted results first, then the largest. A trial is shown when the release's checks confirm its link to the disease and Drugs and targets shows its link to one of the disease's drugs. 2 more are not shown, since the checks do not confirm them.

Trial	Title	Phase	Participants	Results first posted	Conditions	Drugs	Linked by	Source
NCT00390858	A 4-year Extension Study to Core 1-year Study of Iron Chelation Therapy With Deferasirox in β-thalassemia Major Pediatric Patients With Transfusional Iron Overload.	Phase 2	40	2011-08-15	Transfusional Iron Overload, β-thalassemia Major, Pediatric Rare Anemia	DEFERASIROX	Its record names the disease	ClinicalTrials.gov
NCT02435901	HSCT For Patients With High Risk Hemoglobinopathies Using Reduced Intensity	Phase 1/2	29	2020-11-05	Sickle Cell Disease, Beta Thalassemia-Major	ALEMTUZUMAB, CYCLOSPORINE, FLUDARABINE, MELPHALAN, MYCOPHENOLATE MOFETIL, TACROLIMUS ANHYDROUS	Its record names the disease	ClinicalTrials.gov
NCT06468423	Comparison of Deferasirox and Desferoxamine in Patients of β-Thalassemia Major With Iron Overload	Not applicable	142		Pateints of β-thalassemia Major With Iron Overload	DEFERASIROX, DEFEROXAMINE	Its record names the disease	ClinicalTrials.gov
NCT00999349	Therapeutic Effects of Silymarin in Patients With B-thalassemia Major	Phase 2/3	140		Beta-thalassemia Major, Iron Overload	SILYMARIN	Its record names the disease	ClinicalTrials.gov
NCT04260516	The Effect of N-acetylcysteine on Oxidative Stress Status and Iron Overload in Thalassemia Major	Phase 1	100		Thalassemia Major	ACETYLCYSTEINE	Open Targets' reading of its record	ClinicalTrials.gov
NCT07292259	Combination of Thalidomide and Hydroxyuria in Transfusion Dependent Thalasemmia	Phase 2	100		Transfusion Dependent Beta Thalassemia	HYDROXYUREA, THALIDOMIDE	Its record names the disease	ClinicalTrials.gov
NCT07338344	Evaluating the Clinical Efficacy and Safety of Luspatercept Combined With Thalidomide in the Treatment of β-TDT Patients	Phase 2	78		Transfusion-dependent β-thalassemia Patients	LUSPATERCEPT, THALIDOMIDE	Its record names the disease	ClinicalTrials.gov
NCT02173951	An Algorithm to Start Iron Chelation in Minimally Transfused Young Beta-thalassemia Major Patients	Phase 2/3	64		Beta Thalassemia Major	DEFERIPRONE	Its record names the disease	ClinicalTrials.gov
NCT06596642	A Real-World Study of β-Thalassemia Major Treatment With Luspatercept in Taiwan		61		β-Thalassemia Major	LUSPATERCEPT	Its record names the disease	ClinicalTrials.gov
NCT01511848	Study Of Efficacy,Safety of Combined Deferasirox and Deferiprone Versus Combined Deferiprone and Desferal In Conditions of Iron Overload	Phase 2/3	60		Beta-thalassemia Major, Sickle Cell Disease, Iron Hemosiderosis	DEFERASIROX, DEFERIPRONE, DEFEROXAMINE	Its record names the disease	ClinicalTrials.gov

1 to 10 of 20

See all 20 trials

Comparisons in its trials1

Comparisons Trial comparisons calculated in the trials shown here, most participants first. A comparison in one of these trials does not always compare a treatment for the disease, so read the two groups.

Comparison	Group 1, with the outcome	Group 2, with the outcome	Participants	Trial
Children (<12 Years) vs Adolescents ( ≧12 Years): serious adverse events	4 of 20	8 of 20	40	NCT00390858

Source Trial comparisons

Papers from its trials19

The papers the trials shown here list on ClinicalTrials.gov as their results (RESULT) or as drawn from them (DERIVED), results first, newest first.

PMID	Listed as	Trials listing it	Source
36699430	RESULT	1	PubMed
35477175	RESULT	1	PubMed
34456732	RESULT	1	PubMed
32425398	RESULT	1	PubMed
29333256	RESULT	1	PubMed
28850716	RESULT	1	PubMed
26285072	RESULT	1	PubMed
26175690	RESULT	1	PubMed
25389409	RESULT	1	PubMed
25222041	RESULT	1	PubMed

1 to 10 of 19

See all 19 papers from its trials

Data dates

The date of each source this release read.

Open Targets: 2026-09-18; Open Targets
Drug links and their checks, from Drugs and targets: 2026-09-18; Drugs and targets
ClinicalTrials.gov, from Trials: 2026-11-12; Trials
Comparisons, from Trial comparisons: 2026-03-23; Trial comparisons
PubMed, for the checks: 2026-11-06; PubMed
MeSH, for the checks: 2026-11-10; MeSH

Sources 6

ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
ChEMBL, through Open TargetsCC BY-SA 3.0
ClinicalTrials.govNo license stated
NLM's MeSHNLM's terms
Open TargetsCC0 1.0
PubMedNLM's terms

Each source's terms

ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
ClinicalTrials.govnone stated
NLM's MeSHNLM's
Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
PubMedNLM's terms

ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.

For software

Read this disease from software.

The record and each of its lists are JSON, twenty rows a page. No key.

GET https://conductscience.org/api/diseases/v1/MONDO_0016486

GET https://conductscience.org/api/diseases/v1/MONDO_0016486/drugs?page=2

API reference For AI assistants