Hemoglobinopathy
diseaseOn this page
Also known as haemoglobin diseasehaemoglobin disorder
Summary
Hemoglobinopathy (MONDO:0044348) is a disease with 2 cohort genes and 66 clinical trials. Top therapeutic interventions include exagamglogene autotemcel, hydroxyurea, and penicillin g.
At a glance
- Cohort genes: 2
- ClinVar variants: 56
- Clinical trials: 66
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | hemoglobinopathy |
| Mondo ID | MONDO:0044348 |
| SNOMED CT | 80141007 |
| UMLS | C0019045 |
| MedGen | 42400 |
| Is cancer (heuristic) | no |
Also known as: haemoglobin disease · haemoglobin disorder · hemoglobinopathy
Data availability: 56 ClinVar variants.
Disease family
An umbrella term covering 4 Mondo subtypes.
Classification path: disease › human disease › disease by body system or component › hematologic disorder › erythrocyte disorder › hemoglobinopathy
Related subtypes (1): malaria
Subtypes (4): methemoglobinemia, sulfhemoglobinemia, inherited hemoglobinopathy, acquired hemoglobinopathy
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
56 retrieved; paginated sample, class counts are floors:
33 pathogenic, 8 pathogenic/likely pathogenic, 7 likely pathogenic, 6 conflicting classifications of pathogenicity, 2 uncertain significance
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 15166 | NM_000518.5(HBB):c.71_73del (p.Val24del) | HBB | Pathogenic | no assertion criteria provided |
| 15183 | NM_000518.4(HBB):c.86T>C (p.Leu29Pro) | HBB | Pathogenic | criteria provided, single submitter |
| 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 |
| 15290 | NM_000518.5(HBB):c.404T>A (p.Val135Glu) | HBB | Pathogenic | no assertion criteria provided |
| 15300 | NM_000518.5(HBB):c.61G>A (p.Val21Met) | HBB | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 15311 | NM_000518.5(HBB):c.273G>C (p.Glu91Asp) | HBB | Pathogenic | criteria provided, single submitter |
| 15342 | NM_000518.5(HBB):c.328G>A (p.Val110Met) | 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 |
| 15414 | NM_000518.5(HBB):c.51del (p.Lys18fs) | HBB | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 15423 | NM_000518.5(HBB):c.36del (p.Thr13fs) | HBB | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 15426 | NM_000518.5(HBB):c.45dup (p.Trp16fs) | HBB | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 15431 | NM_000518.5(HBB):c.112del (p.Trp38fs) | HBB | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 15432 | NM_000518.5(HBB):c.85dup (p.Leu29fs) | HBB | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 15483 | NM_000518.5(HBB):c.380T>G (p.Val127Gly) | HBB | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 15488 | NM_000518.5(HBB):c.*111A>G | HBB | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 15494 | NM_000518.4(HBB):c.277C>A (p.His93Asn) | HBB | Pathogenic | no assertion criteria provided |
| 15526 | NM_000518.5(HBB):c.347C>A (p.Ala116Asp) | HBB | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 15536 | NM_000518.4(HBB):c.202G>A (p.Val68Met) | HBB | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 15545 | NM_000518.4(HBB):c.422C>T (p.Ala141Val) | HBB | Pathogenic | criteria provided, single submitter |
| 2573434 | NM_000518.5(HBB):c.15_19delinsATCTT (p.Pro6_Glu7delinsSerTer) | HBB | Pathogenic | criteria provided, single submitter |
| 2577315 | NM_000518.5(HBB):c.118_121dup (p.Arg41fs) | HBB | Pathogenic | criteria provided, single submitter |
| 2691364 | NM_000518.5(HBB):c.345_348dup (p.His117fs) | HBB | Pathogenic | criteria provided, single submitter |
| 38650 | NM_000518.5(HBB):c.79G>T (p.Glu27Ter) | HBB | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 38659 | NM_000518.5(HBB):c.155del (p.Pro52fs) | HBB | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 393701 | NM_000518.5(HBB):c.-138C>A | HBB | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 393702 | NM_000518.5(HBB):c.-29G>A | HBB | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 439140 | NM_000518.5(HBB):c.1A>G (p.Met1Val) | HBB | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 439167 | NM_000518.5(HBB):c.93-2A>C | HBB | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 439782 | NM_000518.5(HBB):c.113G>A (p.Trp38Ter) | HBB | Pathogenic | criteria provided, multiple submitters, no conflicts |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 0 · Orphanet: 32 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
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 |
| 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
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 | 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) |
|---|---|---|
| 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: 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 | |
| HBD | Other/Unknown | no | Globin, Hemoglobin_b, Globin-like_sf |
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 |
|---|---|
| trabecular bone tissue | 2 |
| monocyte | 1 |
| vena cava | 1 |
| bone marrow | 1 |
| bone marrow 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 |
| HBD | 170 | tissue_specific | marker | trabecular bone tissue, bone marrow, bone marrow cell |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| HBD | 1,206 |
| HBB | 454 |
Structural data
PDB: 2 · AlphaFold-only: 0 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| HBB | P68871 | 350 |
| HBD | P02042 | 2 |
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 |
|---|---|---|---|---|
| Factors involved in megakaryocyte development and platelet production | 2 | 66.4× | 0.002 | HBB, HBD |
| Heme assimilation | 1 | 1903.3× | 0.003 | HBB |
| Erythrocytes take up oxygen and release carbon dioxide | 1 | 634.4× | 0.005 | HBB |
| Erythrocytes take up carbon dioxide and release oxygen | 1 | 439.2× | 0.005 | HBB |
| Scavenging of heme from plasma | 1 | 439.2× | 0.005 | HBB |
| Chaperone Mediated Autophagy | 1 | 248.3× | 0.007 | HBB |
| Late endosomal microautophagy | 1 | 163.1× | 0.009 | HBB |
| Heme signaling | 1 | 107.7× | 0.012 | HBB |
| Cytoprotection by HMOX1 | 1 | 92.1× | 0.012 | 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 |
|---|---|---|---|---|
| carbon dioxide transport | 2 | 1296.3× | 5e-06 | HBB, HBD |
| oxygen transport | 2 | 1053.2× | 5e-06 | HBB, HBD |
| erythrocyte development | 2 | 526.6× | 2e-05 | HBB, HBD |
| nitric oxide transport | 1 | 1685.2× | 0.002 | HBB |
| cellular oxidant detoxification | 1 | 936.2× | 0.003 | HBB |
| renal absorption | 1 | 842.6× | 0.003 | HBB |
| hydrogen peroxide catabolic process | 1 | 337.0× | 0.005 | HBB |
| blood vessel diameter maintenance | 1 | 312.1× | 0.005 | HBB |
| response to hydrogen peroxide | 1 | 234.1× | 0.006 | HBB |
| positive regulation of nitric oxide biosynthetic process | 1 | 227.7× | 0.006 | HBB |
| platelet aggregation | 1 | 168.5× | 0.007 | HBB |
| regulation of blood pressure | 1 | 110.9× | 0.010 | HBB |
| inflammatory response | 1 | 18.9× | 0.052 | HBB |
Therapeutics
Drug target analysis
Approved (phase 4): 1 · Phase ≥3: 1 · Phased (≥1): 1 · Undrugged: 1
Druggability breadth: 1 of 2 evidence-associated genes (50%) 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 |
| 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 |
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
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 | 1 | HBD |
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) |
|---|---|---|
| HBD | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 66.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 26 |
| PHASE2 | 14 |
| PHASE1/PHASE2 | 8 |
| PHASE3 | 7 |
| PHASE1 | 5 |
| PHASE4 | 2 |
| PHASE2/PHASE3 | 2 |
| EARLY_PHASE1 | 2 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT00673608 | PHASE4 | COMPLETED | Magnetic Resonance Imaging (MRI) Assessments of the Heart and Liver Iron Load in Patients With Transfusion Induced Iron Overload |
| NCT00887081 | PHASE4 | UNKNOWN | Interferon and Ribavirin Treatment in Patients With Hemoglobinopathies |
| NCT04208529 | PHASE3 | ENROLLING_BY_INVITATION | A Long-term Follow-up Study in Participants Who Received CTX001 |
| NCT05329649 | PHASE3 | ACTIVE_NOT_RECRUITING | Evaluation of Safety and Efficacy of CTX001 in Pediatric Participants With Severe Sickle Cell Disease (SCD) |
| 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 |
| NCT00000585 | PHASE3 | COMPLETED | Penicillin Prophylaxis in Sickle Cell Disease (PROPS) |
| NCT00000586 | PHASE3 | COMPLETED | Multicenter Study of Hydroxyurea in Patients With Sickle Cell Anemia (MSH) |
| NCT00000592 | PHASE3 | COMPLETED | Stroke Prevention in Sickle Cell Anemia (STOP 1) |
| NCT03655678 | PHASE2/PHASE3 | COMPLETED | A Safety and Efficacy Study Evaluating CTX001 in Participants With Transfusion-Dependent β-Thalassemia |
| NCT03745287 | PHASE2/PHASE3 | COMPLETED | A Safety and Efficacy Study Evaluating CTX001 in Subjects With Severe Sickle Cell Disease |
| NCT00920972 | PHASE1/PHASE2 | RECRUITING | Campath/Fludarabine/Melphalan Transplant Conditioning for Non-Malignant Diseases |
| NCT01050855 | PHASE2 | ACTIVE_NOT_RECRUITING | Reduced Intensity Conditioning (RIC) Regimen for Patients With Non-malignant Disorders |
| NCT01966367 | PHASE1/PHASE2 | ACTIVE_NOT_RECRUITING | CD34+ (Non-Malignant) Stem Cell Selection for Patients Receiving Allogeneic Stem Cell Transplantation |
| NCT03128996 | PHASE1/PHASE2 | RECRUITING | Reduced Intensity Conditioning and Familial HLA-Mismatched BMT for Non-Malignant Disorders |
| NCT04356469 | PHASE2 | RECRUITING | TCR Alpha Beta T-cell Depleted Haploidentical HCT in the Treatment of Non-Malignant Hematological Disorders in Children |
| NCT04644016 | PHASE2 | RECRUITING | Cord Blood Transplant in Children and Young Adults With Blood Cancers and Non-malignant Disorders |
| NCT04853576 | PHASE1/PHASE2 | ACTIVE_NOT_RECRUITING | A Study Evaluating the Safety and Efficacy of EDIT-301 in Participants With Severe Sickle Cell Disease (RUBY) |
| NCT05444894 | PHASE1/PHASE2 | ACTIVE_NOT_RECRUITING | EDIT-301 for Autologous Hematopoietic Stem Cell Transplant (HSCT) in Participants With Transfusion-Dependent Beta Thalassemia (TDT) |
| NCT06490601 | PHASE2 | ACTIVE_NOT_RECRUITING | Long Term Beta Thalassemia Treatment: Findings From The Extension Period |
| NCT06839456 | PHASE1/PHASE2 | RECRUITING | Phase 1/2: CD45RA Depleted Stem Cell Addback to Prevent Viral or Fungal Infections Post TCRab/CD19 Depleted HSCT |
| NCT06872333 | PHASE2 | RECRUITING | Allo HSCT for High Risk Hemoglobinopathies |
| NCT00000588 | PHASE2 | COMPLETED | Chelation Therapy of Iron Overload With Pyridoxal Isonicotinoyl Hydrazone |
| NCT00000595 | PHASE2 | COMPLETED | Evaluation of Subcutaneous Desferrioxamine as Treatment for Transfusional Hemochromatosis |
| NCT00000602 | PHASE2 | COMPLETED | Pediatric Hydroxyurea in Sickle Cell Anemia (PED HUG) |
| NCT00001958 | PHASE2 | COMPLETED | Hydroxyurea to Treat Beta-Thalassemia (Cooley’s Anemia) |
| 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 |
| NCT00153985 | PHASE2 | COMPLETED | Allogeneic Stem Cell Transplantation Following Chemotherapy in Patients With Hemoglobinopathies |
| NCT00968864 | PHASE2 | TERMINATED | T-cell Depleted Alternative Donor Transplantation |
| NCT02065869 | PHASE1/PHASE2 | TERMINATED | Safety Study of Gene Modified Donor T-cells Following TCRαβ+ Depleted Stem Cell Transplant |
| NCT03733249 | PHASE1/PHASE2 | TERMINATED | Long Term Follow-up Study for Patients Enrolled on the BP-004 Clinical Study |
| NCT03249831 | PHASE1 | ACTIVE_NOT_RECRUITING | A Blood Stem Cell Transplant for Sickle Cell Disease |
| NCT07087262 | PHASE1 | RECRUITING | A Phase I Study of SNH-119014 in Healthy Volunteers |
| NCT00744692 | PHASE1 | COMPLETED | Reduced Intensity Conditioning for Umbilical Cord Blood Transplant in Pediatric Patients With Non-Malignant Disorders |
| NCT02231710 | PHASE1 | TERMINATED | Safety Study of Gene Modified Donor T Cell Infusion After Stem Cell Transplant for Non-Malignant Diseases |
| NCT02986698 | PHASE1 | TERMINATED | In Utero Hematopoietic Stem Cell Transplantation for Alpha-thalassemia Major (ATM) |
| NCT06107400 | EARLY_PHASE1 | RECRUITING | Safety and Efficacy of RM-004 Cells for Hemoglobin H-Constant Spring Disease |
| NCT06313398 | EARLY_PHASE1 | RECRUITING | Determination of Red Cell Survival in Sickle Cell Disease and Other Hemoglobinopathies Using Biotin Labeling |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| EXAGAMGLOGENE AUTOTEMCEL | 4 | 6 |
| HYDROXYUREA | 4 | 3 |
| PENICILLIN G | 4 | 3 |
| PHENYTOIN | 4 | 2 |
| ALEMTUZUMAB | 4 | 1 |
| DEFERASIROX | 4 | 1 |
| DEFEROXAMINE | 4 | 1 |
| PENTOSTATIN | 4 | 1 |
| RIBAVIRIN | 4 | 1 |
| RIMIDUCID | 2 | 3 |
| RENIZGAMGLOGENE AUTOGEDTEMCEL | 2 | 2 |
| RIVOGENLECLEUCEL | 2 | 2 |
| CHEMBL4635234 | 0 | 1 |
Related Atlas pages
- Cohort genes: HBB, HBD
- Drugs: Exagamglogene Autotemcel, Hydroxyurea, Penicillin G, Phenytoin, Alemtuzumab, Deferasirox, Deferoxamine, Pentostatin, Ribavirin