Hereditary hemochromatosis

Summary

Hereditary hemochromatosis (MONDO:0006507) is a disease (an umbrella term covering 8 Mondo subtypes) caused by CYBRD1 (GenCC Strong), with 7 cohort genes and 35 clinical trials. The dominant Reactome pathway is Iron uptake and transport (3 cohort genes). Top therapeutic interventions include deferoxamine, deferasirox, and deferiprone.

At a glance

• Causal gene: CYBRD1 (GenCC Strong)
• Umbrella term: 8 Mondo subtypes
• Cohort genes: 7
• ClinVar variants: 1,220
• Clinical trials: 35

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	hereditary hemochromatosis
Mondo ID	MONDO:0006507
MeSH	D006432
OMIM	235200
DOID	DOID:2352
ICD-10-CM	E83.110
NCIT	C84481
SNOMED CT	35400008, 399187006
UMLS	C0392514
MedGen	140272
GARD	0024434
Is cancer (heuristic)	no

Also known as: haemochromatosis · hemochromatosis · hemochromatosis, hereditary

Data availability: 1,220 ClinVar variants · 2 GenCC gene-disease records.

Disease family

An umbrella term covering 8 Mondo subtypes.

Classification path: disease › human disease › disease by developmental or physiological process › metabolic disease › mineral metabolism disease › iron metabolism disease › hemosiderosis › hereditary hemochromatosis

Related subtypes (2): ocular siderosis, pulmonary hemosiderosis

Subtypes (8): neonatal hemochromatosis, African iron overload, hemochromatosis type 3, hemochromatosis type 4, hemochromatosis type 5, hemochromatosis type 2, hemochromatosis type 1, digenic hemochromatosis

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

600 retrieved; paginated sample, class counts are floors:

427 likely benign, 66 uncertain significance, 30 pathogenic, 22 pathogenic/likely pathogenic, 19 likely pathogenic, 16 conflicting classifications of pathogenicity, 14 benign, 5 benign/likely benign, 1 conflicting classifications of pathogenicity; other

ClinVar	Variant (HGVS)	Gene	Classification	Review
1065637	NM_000410.4(HFE):c.1006+1G>A	HFE	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1071037	NM_000410.4(HFE):c.1022_1034del (p.His341fs)	HFE	Pathogenic	criteria provided, multiple submitters, no conflicts
1072713	NM_000410.4(HFE):c.480del (p.Arg161fs)	HFE	Pathogenic	criteria provided, single submitter
1073981	NM_000410.4(HFE):c.211C>T (p.Arg71Ter)	HFE	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1454985	NM_000410.4(HFE):c.279del (p.Trp94fs)	HFE	Pathogenic	criteria provided, single submitter
1456030	NM_000410.4(HFE):c.626del (p.Leu209fs)	HFE	Pathogenic	criteria provided, single submitter
1458886	NM_000410.4(HFE):c.414C>G (p.Tyr138Ter)	HFE	Pathogenic	criteria provided, single submitter
19	NM_000410.4(HFE):c.848A>C (p.Gln283Pro)	HFE	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2016731	NM_000410.4(HFE):c.407G>A (p.Trp136Ter)	HFE	Pathogenic	criteria provided, single submitter
2054741	NM_000410.4(HFE):c.616+1G>T	HFE	Pathogenic	criteria provided, single submitter
2126877	NM_000410.4(HFE):c.760A>T (p.Lys254Ter)	HFE	Pathogenic	criteria provided, single submitter
2152189	NM_000410.4(HFE):c.548T>C (p.Leu183Pro)	HFE	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2199175	NM_000410.4(HFE):c.832C>T (p.Gln278Ter)	HFE	Pathogenic	criteria provided, single submitter
2710835	NM_000410.4(HFE):c.663del (p.Thr222fs)	HFE	Pathogenic	criteria provided, single submitter
1073275	NM_003227.4(TFR2):c.2084C>A (p.Ser695Ter)	LOC113687175	Pathogenic	criteria provided, single submitter
1075084	NM_003227.4(TFR2):c.2095_2096del (p.Asp699fs)	LOC113687175	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1405162	NM_003227.4(TFR2):c.2136+1G>A	LOC113687175	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1417753	NM_003227.4(TFR2):c.2092A>T (p.Arg698Ter)	LOC113687175	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1453795	NM_003227.4(TFR2):c.2018G>A (p.Trp673Ter)	LOC113687175	Pathogenic	criteria provided, single submitter
2692606	NM_003227.4(TFR2):c.2079C>G (p.Tyr693Ter)	LOC113687175	Pathogenic	criteria provided, single submitter
1072553	NM_003227.4(TFR2):c.2236dup (p.Asp746fs)	TFR2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1072555	NM_003227.4(TFR2):c.405_406del (p.Tyr136fs)	TFR2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1073644	NM_003227.4(TFR2):c.862C>T (p.Gln288Ter)	TFR2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1074157	NM_003227.4(TFR2):c.1638_1639del (p.Leu546_Tyr547insTer)	TFR2	Pathogenic	criteria provided, single submitter
1076276	NM_003227.4(TFR2):c.661G>T (p.Gly221Ter)	TFR2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1355498	NM_003227.4(TFR2):c.318del (p.Ser107fs)	TFR2	Pathogenic	criteria provided, single submitter
1370639	NM_003227.4(TFR2):c.63del (p.Val22fs)	TFR2	Pathogenic	criteria provided, single submitter
1389891	NM_003227.4(TFR2):c.33+1del	TFR2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1403018	NM_003227.4(TFR2):c.745del (p.His249fs)	TFR2	Pathogenic	criteria provided, single submitter
1425195	NM_003227.4(TFR2):c.484del (p.Leu162fs)	TFR2	Pathogenic	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 2 · Orphanet: 9 · 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
CYBRD1	Strong	Autosomal recessive	hereditary hemochromatosis
HEPH	Moderate	X-linked	hereditary hemochromatosis

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
TFR2	Orphanet:225123	TFR2-related hemochromatosis
TFR2	Orphanet:648581	Digenic hemochromatosis
HAMP	Orphanet:648581	Digenic hemochromatosis
HAMP	Orphanet:79230	HJV or HAMP-related hemochromatosis
HFE	Orphanet:443057	Sporadic porphyria cutanea tarda
HFE	Orphanet:443062	Familial porphyria cutanea tarda
HFE	Orphanet:465508	Symptomatic form of HFE-related hemochromatosis
HFE	Orphanet:586	Cystic fibrosis
HFE	Orphanet:648581	Digenic hemochromatosis

Cohort genes → proteins

7 cohort genes, 6 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	7

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
CYBRD1	HGNC:20797	ENSG00000071967	Q53TN4	Plasma membrane ascorbate-dependent reductase CYBRD1	gencc
HEPH	HGNC:4866	ENSG00000089472	Q9BQS7	Hephaestin	gencc
TFR2	HGNC:11762	ENSG00000106327	Q9UP52	Transferrin receptor protein 2	clinvar
HAMP	HGNC:15598	ENSG00000105697	P81172	Hepcidin	clinvar
MYO18A	HGNC:31104	ENSG00000196535	O95411	Putative TGFB1-induced anti-apoptotic factor 1	clinvar
HFE	HGNC:4886	ENSG00000010704	Q30201	Hereditary hemochromatosis protein	clinvar
HFE-AS1	HGNC:55168			HFE antisense RNA 1	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
CYBRD1	Plasma membrane ascorbate-dependent reductase CYBRD1	Plasma membrane reductase that uses cytoplasmic ascorbate as an electron donor to reduce extracellular Fe(3+) into Fe(2+).
HEPH	Hephaestin	Plasma membrane ferroxidase that mediates the extracellular conversion of ferrous/Fe(2+) iron into its ferric/Fe(3+) form.
TFR2	Transferrin receptor protein 2	Mediates cellular uptake of transferrin-bound iron in a non-iron dependent manner.
HAMP	Hepcidin	Liver-produced hormone that constitutes the main circulating regulator of iron absorption and distribution across tissues.
MYO18A	Putative TGFB1-induced anti-apoptotic factor 1	Inhibits the cytotoxic effects of TNF and overexpressed TNF receptor adapters TRADD, FADD, and RIPK1.
HFE	Hereditary hemochromatosis protein	Binds to transferrin receptor (TFR) and reduces its affinity for iron-loaded transferrin.

Protein-family classification

Druggable: 3 · Difficult: 1 · Unknown: 3 · Druggable fraction: 0.43

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
Protease	1	5.2×	0.541
Antibody/Immunoglobulin	1	4.2×	0.541
Scaffold/PPI	1	2.5×	0.568
Enzyme (other)	1	1.7×	0.571
Other/Unknown	3	0.8×	0.858

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
CYBRD1	Enzyme (other)	yes	7.2.1.3	Cyt_b561/ferric_Rdtase_TM, CYB561/CYBRD1-like
HEPH	Other/Unknown	no		Cu_oxidase_Cu_BS, Cupredoxin, Cu-oxidase_C
TFR2	Protease	yes		PA_domain, Peptidase_M28, TFR-like_dimer_dom_sf
HAMP	Other/Unknown	no		Hepcidin
MYO18A	Scaffold/PPI	no		IQ_motif_EF-hand-BS, PDZ, Myosin_head_motor_dom-like
HFE	Antibody/Immunoglobulin	yes		MHC_I_a_a1/a2, Ig/MHC_CS, Ig_C1-set
HFE-AS1	Other/Unknown	no

Expression context

Cohort genes with no expression data: 1.

6 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)	6
unknown	1

Top tissues across cohort

Tissue	Cohort genes
right lobe of liver	2
calcaneal tendon	1
germinal epithelium of ovary	1
skin of hip	1
colonic mucosa	1
jejunal mucosa	1
mucosa of sigmoid colon	1
liver	1
vena cava	1
cardiac atrium	1
right atrium auricular region	1
gastrocnemius	1
muscle of leg	1
skeletal muscle tissue	1
olfactory bulb	1
stromal cell of endometrium	1
type B pancreatic cell	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
CYBRD1	262	ubiquitous	marker	calcaneal tendon, germinal epithelium of ovary, skin of hip
HEPH	255	ubiquitous	marker	jejunal mucosa, mucosa of sigmoid colon, colonic mucosa
TFR2	188	tissue_specific	marker	right lobe of liver, liver, vena cava
HAMP	223	broad	marker	right lobe of liver, right atrium auricular region, cardiac atrium
MYO18A	134	ubiquitous	marker	gastrocnemius, skeletal muscle tissue, muscle of leg
HFE	238	ubiquitous	marker	type B pancreatic cell, olfactory bulb, stromal cell of endometrium
HFE-AS1

Protein interactions among cohort

Intra-cohort edges: 10.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
HAMP	1,580
HFE	1,569
HEPH	1,528
TFR2	1,077
CYBRD1	905
MYO18A	347
HFE-AS1	0

Intra-cohort edges

A	B	Sources
CYBRD1	HAMP	string_interaction
CYBRD1	HEPH	string_interaction
CYBRD1	HFE	string_interaction
CYBRD1	TFR2	string_interaction
HAMP	HEPH	string_interaction
HAMP	HFE	string_interaction
HAMP	TFR2	string_interaction
HEPH	HFE	string_interaction
HEPH	TFR2	string_interaction
HFE	TFR2	string_interaction

Structural data

PDB: 3 · AlphaFold-only: 3 · No structure: 1

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
HAMP	P81172	6
CYBRD1	Q53TN4	2
HFE	Q30201	2

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
HEPH	Q9BQS7	89.09
TFR2	Q9UP52	83.98
MYO18A	O95411	41.43

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 13. Enrichment computed across 7 evidence-associated genes (5 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 5 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Iron uptake and transport	3	207.6×	3e-06	TFR2, CYBRD1, HEPH
Transferrin endocytosis and recycling	2	147.3×	5e-04	TFR2, HFE
Defective SLC40A1 causes hemochromatosis 4 (HFE4) (duodenum)	1	1142.0×	0.004	HEPH
FGFR1 mutant receptor activation	1	228.4×	0.011	MYO18A
FLT3 signaling in disease	1	228.4×	0.011	MYO18A
Signaling by cytosolic FGFR1 fusion mutants	1	126.9×	0.014	MYO18A
Metal ion SLC transporters	1	120.2×	0.014	HEPH
Signaling by FLT3 fusion proteins	1	114.2×	0.014	MYO18A
Signaling by FGFR in disease	1	84.6×	0.017	MYO18A
Signaling by FGFR1 in disease	1	58.6×	0.022	MYO18A
Diseases of signal transduction by growth factor receptors and second messengers	1	11.4×	0.100	MYO18A
Transport of small molecules	1	5.0×	0.199	TFR2
Disease	1	2.6×	0.328	MYO18A

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 6 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
multicellular organismal-level iron ion homeostasis	5	484.2×	3e-12	TFR2, HAMP, CYBRD1, HEPH, HFE
response to iron ion	4	624.1×	4e-10	TFR2, HAMP, CYBRD1, HFE
intracellular iron ion homeostasis	4	162.8×	7e-08	TFR2, HAMP, CYBRD1, HFE
cellular response to iron ion	2	802.5×	3e-05	TFR2, HFE
transferrin transport	2	510.7×	5e-05	TFR2, HFE
positive regulation of peptide hormone secretion	2	510.7×	5e-05	TFR2, HFE
iron ion transport	2	295.6×	1e-04	TFR2, HEPH
reductive iron assimilation	1	2808.7×	0.001	CYBRD1
negative regulation of iron ion transmembrane transport	1	2808.7×	0.001	HAMP
endocytic iron import into cell	1	2808.7×	0.001	TFR2
intestinal iron absorption	1	2808.7×	0.001	HEPH
positive regulation of protein maturation	1	2808.7×	0.001	TFR2
negative regulation of iron export across plasma membrane	1	2808.7×	0.001	HAMP
positive regulation of iron export across plasma membrane	1	2808.7×	0.001	HEPH
negative regulation of antigen processing and presentation of endogenous peptide antigen via MHC class I	1	2808.7×	0.001	HFE
negative regulation of intestinal absorption	1	2808.7×	0.001	HAMP
receptor-mediated endocytosis	2	73.9×	0.001	TFR2, HFE
regulation of iron ion transport	1	1404.3×	0.002	HFE
asymmetric Golgi ribbon formation	1	1404.3×	0.002	MYO18A
ascorbate homeostasis	1	936.2×	0.003	CYBRD1
response to iron ion starvation	1	936.2×	0.003	HFE
Golgi vesicle budding	1	702.2×	0.003	MYO18A
negative regulation of CD8-positive, alpha-beta T cell activation	1	702.2×	0.003	HFE
negative regulation of T cell cytokine production	1	401.2×	0.006	HFE
positive regulation of opsonization	1	280.9×	0.008	MYO18A
regulation of protein localization to cell surface	1	280.9×	0.008	HFE
urate metabolic process	1	255.3×	0.008	HFE
Golgi ribbon formation	1	255.3×	0.008	MYO18A
hormone biosynthetic process	1	234.1×	0.008	HFE
regulation of macrophage activation	1	216.1×	0.008	MYO18A

Therapeutics

Drugs indicated or in trials for this disease

No drug has an approved disease-direct ChEMBL indication for this disease.

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

Drug	Highest phase
Deferoxamine	Phase 3
Hydroxyurea	Phase 3
Deferasirox	Phase 2
Rusfertide	Phase 2

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 7

Druggability breadth: 2 of 7 evidence-associated genes (29%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
CYBRD1	0	0
HEPH	0	0
TFR2	0	0
HAMP	0	0
MYO18A	0	0
HFE	0	0
HFE-AS1	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

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

Symbol	Assays	Type breakdown
HAMP	9	Binding:9

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
CYBRD1	7.2.1.3	ascorbate ferrireductase (transmembrane)

Pharmacogenomics

Cohort genes with a PharmGKB record: 6; with CPIC/DPWG dosing guidelines: 0.

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

Chemical tractability of cohort targets

0 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.

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	2	CYBRD1, HFE
D	Druggable family + AlphaFold only, no drug	1	TFR2
E	Difficult family or no structure, no drug	4	HEPH, HAMP, MYO18A, HFE-AS1

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
CYBRD1	0	—
HEPH	0	—
TFR2	0	—
HAMP	9	—
MYO18A	0	—
HFE	0	—
HFE-AS1	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 35.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	19
PHASE2	7
PHASE3	4
PHASE1/PHASE2	2
PHASE1	2
PHASE2/PHASE3	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00122980	PHASE3	TERMINATED	Stroke With Transfusions Changing to Hydroxyurea
NCT00202436	PHASE3	COMPLETED	Haemochromatosis:Phlebotomy Versus Erythrocytapheresis Therapy
NCT00350662	PHASE3	COMPLETED	Study With Deferiprone and/or Desferrioxamine in Iron Overloaded Patients
NCT00440986	PHASE2/PHASE3	COMPLETED	Clinical Management of Hereditary Hemochromatosis: Phlebotomy vs. Erythrocytoapheresis
NCT01398644	PHASE3	UNKNOWN	Erythrocytapheresis Versus Phlebotomy as Maintenance Therapy in Hereditary Hemochromatosis (HH) Patients
NCT00007150	PHASE2	ACTIVE_NOT_RECRUITING	Treatment of Hemochromatosis
NCT07371793	PHASE1/PHASE2	RECRUITING	A Study to Evaluate BBI-001 in Healthy Volunteers and in Patients With Hereditary Hemochromatosis
NCT00000595	PHASE2	COMPLETED	Evaluation of Subcutaneous Desferrioxamine as Treatment for Transfusional Hemochromatosis
NCT00349453	PHASE2	COMPLETED	Study Using Deferiprone Alone or in Combination With Desferrioxamine in Iron Overloaded Transfusion-dependent Patients
NCT00395629	PHASE1/PHASE2	COMPLETED	Safety and Efficacy of Deferasirox (ICL670) in Patients With Iron Overload Resulting From Hereditary Hemochromatosis
NCT01892644	PHASE2	WITHDRAWN	Treatment of Iron Overload With Deferasirox (Exjade) in Hereditary Hemochromatosis and Myelodysplastic Syndrome
NCT03203850	PHASE2	TERMINATED	Study to Evaluate the Efficacy and Safety of Deferasirox Film-coated Tablet Versus Phlebotomy in Patients With Hereditary Hemochromatosis (HH)
NCT03395704	PHASE2	COMPLETED	A Study of LJPC-401 for the Treatment of Iron Overload in Adult Patients With Hereditary Hemochromatosis
NCT04202965	PHASE2	COMPLETED	PTG-300 in Subjects With Hereditary Hemochromatosis
NCT00712738	PHASE1	COMPLETED	Oral Nifedipine to Treat Iron Overload
NCT05238207	PHASE1	TERMINATED	A Study to Evaluate BBI-001 in Hereditary Haemochromatosis (HH) Patients and Iron Deficient Volunteers
NCT04779593	Not specified	RECRUITING	Impact of Transferrin Saturation Guided Maintenance Treatment on Quality of Life in HFE Haemochromatosis
NCT00001203	Not specified	COMPLETED	Deferoxamine for the Treatment of Hemochromatosis
NCT00001455	Not specified	COMPLETED	Iron Overload in African Americans
NCT00005541	Not specified	COMPLETED	Hemochromatosis and Iron Overload Screening Study (HEIRS)
NCT00005559	Not specified	COMPLETED	Statistical Basis for Hemochromatosis Screening
NCT00006312	Not specified	COMPLETED	Hemochromatosis–Genetic Prevalence and Penetrance
NCT00068159	Not specified	COMPLETED	Cardiac Function in Patients With Hereditary Hemochromatosis
NCT00199628	Not specified	COMPLETED	Research Network for Neonatal Diseases Induced by Tissular Fetomaternal Alloimmunization
NCT00509652	Not specified	UNKNOWN	Erythrocyte Apheresis Versus Phlebotomy in Hemochromatosis
NCT00587535	Not specified	COMPLETED	Evaluation of a New MR Pulse Sequence to Quantify Liver Iron Concentration
NCT01524757	Not specified	UNKNOWN	Proton Pump Inhibitors in the Prevention of Iron Reaccumulation in Patient With Hereditary Hemochromatosis
NCT01631708	Not specified	COMPLETED	Mi-iron - Moderately Increased Iron - is Reducing Iron Overload Necessary?
NCT01991925	Not specified	WITHDRAWN	Implications for Quality of Life and Quality of Care in Patients With Hereditary Haemochromatosis
NCT02025543	Not specified	COMPLETED	Confounder-Corrected Quantitative MRI Biomarker of Hepatic Iron Content
NCT03654794	Not specified	COMPLETED	Study of the Cellular Diffusion of Tacrolimus Across the Membrane of Mononuclear Cells
NCT03743272	Not specified	COMPLETED	Repeatability and Reproducibility of Multiparametric MRI
NCT04631718	Not specified	COMPLETED	MRI QSM Imaging for Iron Overload
NCT05742035	Not specified	UNKNOWN	Quality and Biologic Characteristics of Red Blood Concentrates Obtained From Individuals With Elevated Ferritin.
NCT06137079	Not specified	UNKNOWN	Iron Overload and Endocrinological Diseases

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
DEFEROXAMINE	4	3
DEFERASIROX	4	2
DEFERIPRONE	4	2
HYDROXYUREA	4	1
NIFEDIPINE	4	1
RUSFERTIDE	3	1
CHEMBL4635234	0	1