Rare Hereditary Hemochromatosis disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: RRH023 MIFTS: 41	Rare Hereditary Hemochromatosis Categories: Cardiovascular diseases, Endocrine diseases, Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases, Skin diseases
Tissues Related diseases Publications Symptoms & Phenotypes Drugs Expand all tables

Sources

Aliases & Classifications for Rare Hereditary Hemochromatosis

MalaCards integrated aliases for Rare Hereditary Hemochromatosis:

Name: Rare Hereditary Hemochromatosis ⁵⁸

Iron Overload ⁵⁴ ⁶ ³⁹

Iron Overload Disease ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

rare hereditary hemochromatosis
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages;

Classifications:

MalaCards categories:
Global: Metabolic diseases Rare diseases Genetic diseases
Anatomical: Liver diseases Skin diseases Cardiovascular diseases Endocrine diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Disorders of mineral metabolism

Disorders of iron metabolism

Orphanet: ⁵⁸

Rare hepatic diseases

Inborn errors of metabolism

External Ids:

ICD10 via Orphanet ³³ E83.1

UMLS via Orphanet ⁷² C0018995 C0282193

Orphanet ⁵⁸ ORPHA220489

SNOMED-CT via HPO ⁶⁸ 126851005 19943007 248274002 more

Sources

Summaries for Rare Hereditary Hemochromatosis

MalaCards based summary : Rare Hereditary Hemochromatosis, also known as iron overload, is related to iron overload in africa and hypochromic microcytic anemia with iron overload. The drugs Hyaluronic acid and Sofosbuvir have been mentioned in the context of this disorder. Affiliated tissues include liver, bone and heart, and related phenotypes are joint stiffness and fatigue

Sources

Related Diseases for Rare Hereditary Hemochromatosis

Diseases in the Rare Hereditary Hemochromatosis family:

Hemochromatosis, Type 1	Hemochromatosis, Type 2a
Hemochromatosis, Type 3	Hemochromatosis, Type 4
Hemochromatosis, Type 2b	Hemochromatosis, Type 5
Hemochromatosis Type 2	Tfr2-Related Hereditary Hemochromatosis

Diseases related to Rare Hereditary Hemochromatosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 448)

#	Related Disease	Score
1	iron overload in africa	13.1
2	hypochromic microcytic anemia with iron overload	12.9
3	anemia, hypochromic microcytic, with iron overload 1	12.9
4	anemia, hypochromic microcytic, with iron overload 2	12.8
5	genetic hyperferritinemia without iron overload	12.6
6	hemochromatosis, type 5	12.5
7	hemochromatosis, type 4	12.0
8	atransferrinemia	11.9
9	hemochromatosis, type 3	11.9
10	congenital dyserythropoietic anemia	11.9
11	anemia, congenital dyserythropoietic, type ii	11.9
12	anemia, sideroblastic, 1	11.9
13	porphyria cutanea tarda	11.8
14	hyperferritinemia with or without cataract	11.8
15	anemia, sideroblastic, 3, pyridoxine-refractory	11.8
16	ferro-cerebro-cutaneous syndrome	11.7
17	hemochromatosis, type 2a	11.7
18	dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema	11.7
19	hypochromic microcytic anemia	11.6
20	variegate porphyria	11.6
21	autosomal recessive pyridoxine-refractory sideroblastic anemia 2	11.6
22	anemia, sideroblastic, and spinocerebellar ataxia	11.6
23	anemia, congenital dyserythropoietic, type ia	11.6
24	overhydrated hereditary stomatocytosis	11.5
25	hemochromatosis type 2	11.5
26	zellweger syndrome	11.4
27	anemia, sideroblastic, 4	11.3
28	anemia, sideroblastic, 2, pyridoxine-refractory	11.3
29	pyridoxine-responsive sideroblastic anemia	11.3
30	myelodysplastic syndrome	10.9
31	siderosis	10.8
32	liver disease	10.8
33	deficiency anemia	10.7
34	hemosiderosis	10.7
35	anemia, x-linked, with or without neutropenia and/or platelet abnormalities	10.7
36	atrial standstill 1	10.6
37	porphyria	10.6
38	fatty liver disease	10.6
39	sickle cell anemia	10.6
40	aplastic anemia	10.5
41	pulmonary fibrosis and/or bone marrow failure, telomere-related, 2	10.5
42	sideroblastic anemia	10.5
43	hemolytic anemia	10.5
44	viral hepatitis	10.5
45	hepatocellular carcinoma	10.5
46	non-alcoholic fatty liver disease	10.5
47	arthropathy	10.5
48	graft-versus-host disease	10.5
49	hypothyroidism	10.5
50	hepatitis c virus	10.5

Graphical network of the top 20 diseases related to Rare Hereditary Hemochromatosis:

Sources

Symptoms & Phenotypes for Rare Hereditary Hemochromatosis

Human phenotypes related to Rare Hereditary Hemochromatosis:

⁵⁸ ³¹ (show all 14)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	joint stiffness ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001387
2	fatigue ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0012378
3	arthralgia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002829
4	joint swelling ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001386
5	generalized hyperpigmentation ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0007440
6	increased serum ferritin ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0003281
7	hypogonadotropic hypogonadism ³¹	hallmark (90%)		HP:0000044
8	cirrhosis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001394
9	osteoporosis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000939
10	congenital hepatic fibrosis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002612
11	cardiomyopathy ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001638
12	neoplasm of the liver ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002896
13	hypogonadotrophic hypogonadism ⁵⁸		Very frequent (99-80%)
14	abnormal joint morphology ⁵⁸		Very frequent (99-80%)

Sources

Drugs & Therapeutics for Rare Hereditary Hemochromatosis

Drugs for Rare Hereditary Hemochromatosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 176)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Hyaluronic acid

Approved, Vet_approved

Phase 4

9004-61-9

53477741

Sofosbuvir

Approved

Phase 4

1190307-88-0

45375808

Ledipasvir

Approved

Phase 4

1256388-51-8

67505836

Velpatasvir

Approved, Investigational

Phase 4

1377049-84-7

67683363

Deferoxamine

Approved, Investigational

Phase 4

70-51-9

2973

Metformin

Approved

Phase 4

657-24-9

14219 4091

Iron

Approved, Experimental

Phase 4

15438-31-0, 7439-89-6

27284 23925

Deferasirox

Approved, Investigational

Phase 4

201530-41-8

5493381

Vitamin C

Approved, Nutraceutical

Phase 4

50-81-7

5785 54670067

Dextrans

Phase 4

Iron-Dextran Complex

Phase 4

Anticoagulants

Phase 4

Plasma Substitutes

Phase 4

Blood Substitutes

Phase 4

Liver Extracts

Phase 4

Anti-Infective Agents

Phase 4

Antiviral Agents

Phase 4

Lactoferrin

Phase 4

Ledipasvir, sofosbuvir drug combination

Phase 4

Antioxidants

Phase 4

Protective Agents

Phase 4

Vitamins

Phase 4

Hypoglycemic Agents

Phase 4

Antilymphocyte Serum

Phase 4

Iron Supplement

Phase 4

Pharmaceutical Solutions

Phase 4

Iron Chelating Agents

Phase 4

Chelating Agents

Phase 4

Immunosuppressive Agents

Phase 4

Cyclosporins

Phase 4

Micronutrients

Phase 4

Trace Elements

Phase 4

Nutrients

Phase 4

Central Nervous System Stimulants

Phase 4

Zinc

Approved, Investigational

Phase 3

7440-66-6

32051

Sargramostim

Approved, Investigational

Phase 2, Phase 3

83869-56-1, 123774-72-1

Lenograstim

Approved, Investigational

Phase 2, Phase 3

135968-09-1

Orange

Approved

Phase 3

Amlodipine

Approved

Phase 3

88150-42-9

2162

Darbepoetin alfa

Approved, Investigational

Phase 2, Phase 3

11096-26-7, 209810-58-2

carbamide peroxide

Approved

Phase 2, Phase 3

124-43-6

Hydroxyurea

Approved

Phase 3

127-07-1

3657

tannic acid

Approved

Phase 3

1401-55-4

Benzocaine

Approved, Investigational

Phase 3

94-09-7, 1994-09-7

2337

Hematinics

Phase 2, Phase 3

Zinc Supplement

Phase 3

Antihypertensive Agents

Phase 3

Vasodilator Agents

Phase 3

Calcium, Dietary

Phase 3

calcium channel blockers

Phase 3

Interventional clinical trials:

(show top 50) (show all 297)

#	Name	Status	NCT ID	Phase	Drugs
1	A Randomized, Placebo Controlled, Double Blind Trial of the Effect of Combined Therapy With Deferoxamine and Deferiprone on Myocardial Iron in Thalassemia Major Using Cardiovascular Magnetic Resonance	Unknown status	NCT00103753	Phase 4	deferiprone
2	Combination With Intravenous Iron Supplementation or Doubling Erythropoietin Dose for Patients With Chemotherapy-induced Anaemia Inadequately Responsive to Initial Erythropoietin Treatment Alone	Unknown status	NCT02731378	Phase 4	Erythropoietins (EPO);Aggressive iron dextran supplementation;Erythropoietins (EPO);Sustained iron dextran supplementation
3	1 Year, Open-label Multicenter Evaluation of Efficacy, Safety of Deferasirox in Patients MDS, Thalassemia and Rare Anemia Types Having Transfusion-induced Iron Overload.	Completed	NCT01250951	Phase 4	Deferasirox
4	A Single Arm, Multicenter, Open Label Study of Desferasirox in Chinese Patients With Iron Overload and Aplastic Anemia	Completed	NCT01546415	Phase 4	Desferasirox
5	Evaluating the Efficacy of Deferasirox in Transfusion Dependent Chronic Anaemias (Myelodysplastic Syndrome, Beta-thalassaemia Patients) With Chronic Iron Overload	Completed	NCT00564941	Phase 4	deferasirox
6	Open-Label Single-Arm Pilot Study of Deferasirox (Exjade®) in Adult Allogeneic Hematopoietic Stem Cell Transplant Recipients With Transfusional Iron Overload	Completed	NCT01335035	Phase 4	deferasirox
7	A One-year, Open-label, Single Arm, Multi-center Trial Evaluating the Efficacy and Safety of Oral ICL670 (20 mg/kg/d) in Patients Three to Six Months After Allogeneic Hematopoietic Cell Transplantation in Whom Iron Overload is Present	Completed	NCT00654589	Phase 4	Deferasirox
8	Safety of Deferasirox (ICL670) and Deferoxamine (Desferal or DFO) Combined Chelation Therapy in Patients With Transfusion Dependent Thalassemia and Iron Overload	Completed	NCT00901199	Phase 4	Combo Chelation with Deferasirox (Exjade) and Desferal (DFO)
9	A Phase II, Multi-center, Single-arm, Prospective Study to Evaluate the Safety and Efficacy of Deferasirox in Beta-thalassemia Major Patients After Hematopoietic Stem Cell Transplantation.	Completed	NCT01610297	Phase 4	ICL670
10	A One-year, Open-label, Single Arm, Multi-center Trial Evaluating the Efficacy and Safety of Oral ICL670 in Patients Diagnosed With Low and INT-1 Risk Myelodysplastic Syndrome (MDS) and Transfusion-dependent Iron Overload	Completed	NCT00481143	Phase 4	ICL670/Deferasirox
11	A Phase IV , Multicenter ,Open Label ,Non Comparative ,Investigator Initiated Study , Evaluating the Effect of Exjade on Oxidative Stress in Low Risk Myelodysplastic Syndrome Patients With Iron Over Load	Completed	NCT00452660	Phase 4	Exjade
12	A Study of Magnetic Resonance Imaging Assessment of Cardiac and Liver Iron Load in Patients With Haemoglobinopathies, Myelodysplastic Syndromes (MDS) or Other Anaemias Treated With Exjade® (Deferasirox) (The MILE Study)	Completed	NCT00673608	Phase 4	deferasirox
13	Increased Survival and Reversion of Iron-Induced Cardiac Disease in Patients With Thalassemia Major Receiving Intensive Combined Chelation Therapy	Completed	NCT00800761	Phase 4	Deferoxamine and Deferiprone;Deferoxamine
14	1-year Extension to CICL670A2402 an Open-label, Multi-center Trial of the Efficacy and Safety of Long-term Treatment With Deferasirox (10 to 20 mg/kg/Day) in Beta-thalassemia Patients With Transfusional Hemosiderosis (Study Amended to 2- Year Duration)	Completed	NCT00171301	Phase 4	Deferasirox
15	An Epidemiological Study to Assess the Prevalence of Iron Overload Using MRI in Patients With Transfusional Siderosis (TIMES Study)	Completed	NCT01736540	Phase 4
16	A Single-arm, Open-label Study of the Palatability and Tolerability of Deferasirox Taken With Meals, With Different Liquids or Crushed and Added to Food	Completed	NCT00845871	Phase 4	deferasirox:
17	An Open Label, Multi-center, Efficacy and Safety Study of Deferasirox in Iron Overloaded Patients With Non-transfusion Dependent Thalassemia	Completed	NCT01709838	Phase 4	deferasirox
18	Randomized Trial Comparing the Relative Efficacy of Deferiprone to That of Deferoxamine in Removing Excess Cardiac Iron in Thalassemia Major Patients	Completed	NCT00105495	Phase 4	Ferriprox (deferiprone);Desferal (deferoxamine)
19	Pilot Pharmacokinetic Study In Patients With Inadequate Response To Deferasirox (Exjade)	Completed	NCT00749515	Phase 4	Deferoxamine;Deferasirox
20	A Single-arm Interventional Phase IV, Post-authorisation Study Evaluating the Safety of Pediatric Patients With Transfusional Hemosiderosis Treated With Deferasirox Crushed Film Coated Tablets	Completed	NCT03372083	Phase 4	Deferasirox
21	Sofosbuvir/Ledipasvir for Hepatitis C Genotype 1-6 in Patients With Transfusion-Dependent Thalassemia: An Open Label Trial	Completed	NCT03032666	Phase 4	sofosbuvir/velpatasvir
22	Phase IV Study of Oral Administration of Bovine Lactoferrin (bLf) to Prevent and Cure Iron Deficiency (ID) and Iron Deficiency Anemia (IDA) Until Delivery in Hereditary Thrombophilia (HT) Affected Pregnant Women	Completed	NCT01221844	Phase 4	FerroGrad by Abbott
23	Treatment of Iron Deficiency Anaemia in Adults and Adolescents With Inflammatory Bowel Disease Using Ferrous Sulphate: Tolerance and Effects on Haemoglobin, Mood, Quality of Life and Fatigue	Completed	NCT01991314	Phase 4	Ferrous sulphate
24	Evaluation of Liver Fibrosis by Serum Hyalornic Acid Measurement in β-Thalassemic Children Infected With Hepatitis C Virus Before and After Direct-Acting Antiviral Therapy	Completed	NCT03961828	Phase 4	Ledipasvir 90 MG / Sofosbuvir 400 MG [Harvoni]
25	The Efficacy and Safety of Ferriprox® for the Treatment of Transfusional Iron Overload in Patients With Sickle Cell Disease or Other Anemias	Recruiting	NCT02041299	Phase 4	Deferiprone;Deferoxamine
26	Effects of Ascorbic Acid Administration in the Treatment of Anemia in Chronic Hemodialysed Patients With Iron Overload	Recruiting	NCT02225886	Phase 4	Ascorbic Acid
27	The Potential Hepatoprotective Effect of Metformin in Patients With Beta Thalasemia Major	Recruiting	NCT02984475	Phase 4	Metformin
28	Randomized Clinical Trial of the Use of Eltrombopag in Children With Idiopathic Aplastic Anemia	Recruiting	NCT03243656	Phase 4	Eltrombopag
29	Safety and Efficacy of Early-start Deferiprone Treatment in Infants and Young Children Newly Diagnosed With Transfusion-dependent Beta Thalassemia	Active, not recruiting	NCT03591575	Phase 4	Deferiprone oral solution;Placebo
30	Is Iron Supplementation Harmful in Populations Where Iron Deficiency is Not the Cause of Anemia? A 12 Week Randomized Controlled Trial in Cambodia	Active, not recruiting	NCT04017598	Phase 4
31	Long-term Safety and Efficacy Study of Ferriprox® for the Treatment of Transfusional Iron Overload in Patients With Sickle Cell Disease or Other Anemias	Enrolling by invitation	NCT02443545	Phase 4	Deferiprone
32	The Effect of Ferric Carboximaltose on Intra-myocardial Iron Load Assessed by Cardiac Magnetic Resonance in Patients With Heart Failure With Reduced Ejection Fraction (HFREF).	Not yet recruiting	NCT03871699	Phase 4	Ferric carboxymaltose
33	A Multicenter, Randomized, Comparative Study of Different Deferasirox Administration Regimens on Gastrointestinal (GI) Tolerability in Low or Intermediate (Int-1) Risk MDS Myelodysplastic Syndrome Patients With Transfusional Iron Overload.	Terminated	NCT01326845	Phase 4	Deferasirox
34	Open-label Study of Exjade in the Treatment of Transfusion-dependent Iron Overload in Aplastic Anemia Patients Undergoing Treatment Programs in Comparison With Control Group	Terminated	NCT01818726	Phase 4	ICL670;Chelation;No chelation
35	Phase IV Randomized Study Evaluating Agents Stimulants Erythropoiesis (ASE) Associated With Ferric Carboxymaltose (Ferinject ®) in Concomitant or Sequential Patients Treated for Cancer and With Anemia Associated With Functional Iron Deficiency	Terminated	NCT02213653	Phase 4	ARM A : IV iron + epoietin zeta;ARM B: IV iron + epoietin zeta sequence;ARM C : single epoietin zeta
36	Combined Therapy of Silymarin and Desferrioxamine in Patients With B-thalassemia Major: a Randomized Double-blind Clinical Trial	Unknown status	NCT00999349	Phase 2, Phase 3	Silymarin (LEGALON);Placebo
37	Erythrocytapheresis Versus Phlebotomy as Maintenance Therapy in Patients With Hereditary Hemochromatosis; a Randomised, Single Blinded Sequential, Cross-over Trial	Unknown status	NCT01398644	Phase 3
38	A Prospective Randomized Comparative Study of Efficacy and Safety of Combined Deferiprone (DFP) and Deferasirox Versus DFP and Desferrioxamine (DFO) Therapy in Diseases With Severe Iron Overload	Unknown status	NCT01511848	Phase 2, Phase 3	DFP (ferriprox) and deferasirox (ICL 670);DFP, DFO
39	Effect of Mode of Delivery of Iron and/or Iron and Zinc Supplement on Iron Status Markers and Potential Markers of Iron Toxicity in Children Aged 24-36 Months	Unknown status	NCT00980421	Phase 3
40	A Randomised Controlled Trial of Prolonged Treatment With Darbepoetin Alpha With or Without Recombinant Human Granulocyte Colony Stimulating Factor (G-CSF) Versus Best Supportive Care in Patients With Low-Risk Myelodysplastic Syndromes	Unknown status	NCT00234143	Phase 2, Phase 3	Darbepoetin
41	A One Year, Open-label, Single-arm, Multi-center Trial Evaluating the Efficacy and Safety of Oral ICL670 (20 mg/kg/Day) in Patients Diagnosed With Transfusion-dependent Iron Overload	Completed	NCT00171821	Phase 3	Deferasirox
42	A 5-year Open Label, Non-comparative Extension to a Randomized, Open-label, Phase IIa Study to Evaluate Safety, Tolerability and the Effects on Liver Iron Concentration of Repeated Doses of 10 and 20 mg/kg/Day of Deferasirox in Comparison With 40 mg/kg/Day Deferoxamine in Patients With Transfusion-dependent Iron Overload	Completed	NCT01033747	Phase 2, Phase 3	Deferasirox;Deferasirox
43	A Study to Provide Expanded Access of (Exjade®) Deferasirox to Patients With Congenital Disorders of Red Blood Cells and Chronic Iron Overload From Blood Transfusions Who Cannot Adequately be Treated With Other Locally Approved Iron Chelators	Completed	NCT00235391	Phase 3	Deferasirox
44	An Extension Study of Iron Chelation Therapy With Deferasirox (ICL670)in β-thalassemia Patients With Transfusional Iron Overload	Completed	NCT00171210	Phase 3	Deferasirox
45	A 24-Week, Open Label, Uncontrolled Study of the Safety and Efficacy of Ferriprox™ (Deferiprone) Oral Solution in Iron Overloaded Pediatric Patients With Transfusion-Dependent Anemia	Completed	NCT00529152	Phase 3	Deferiprone
46	Prospective Randomized Study Comparing the Effect of Phlebotomy and Lifestyle and Diet Advices vs Lifestyle and Diet Advices Only on Glycemia in Patients With Dysmetabolic Liversiderosis	Completed	NCT01045525	Phase 3
47	Open-label, Multicenter, Single Arm, Phase III Study to Collect Additional Safety and Efficacy Data With Deferasirox Film-coated Tablets in Patients Completing Study CICL670F2201	Completed	NCT02720536	Phase 3	Deferasirox
48	Amlodipine in the Prevention and Treatment of Iron Overload in Patients With Thalassemia Major: a Randomized, Controlled Trial	Completed	NCT01395199	Phase 3	Amlodipine
49	Multicentre, Randomised, Open Label, Non-inferiority Trial to Evaluate the Efficacy and Safety of Deferiprone Compared to Deferasirox in Patients Aged From 1 Month to Less Than 18 Years Affected by Transfusion Dependent Haemoglobinopathies	Completed	NCT01825512	Phase 3	Deferiprone;Deferasirox
50	Amlodipine Use in the Prevention and Treatment of Iron Overload in Patients With Thalassemia Major	Completed	NCT01125254	Phase 2, Phase 3	Amlodipine

Search NIH Clinical Center for Rare Hereditary Hemochromatosis

Sources

Genetic Tests for Rare Hereditary Hemochromatosis

Sources

Anatomical Context for Rare Hereditary Hemochromatosis

MalaCards organs/tissues related to Rare Hereditary Hemochromatosis:

⁴⁰

Liver, Bone, Heart, Brain, Bone Marrow, Testes, Kidney

Sources

Publications for Rare Hereditary Hemochromatosis

Articles related to Rare Hereditary Hemochromatosis:

(show top 50) (show all 9371)

#	Title	Authors	PMID	Year
1	Effect of iron chelation therapy on EPO-STAT5 signalling pathway and EPO resistance in iron-overloaded low-risk myelodysplastic syndrome patients. ⁶¹	Zhang Y	31838956	2020
2	Ionizing Radiation Exacerbates the Bone Loss Induced by Iron Overload in Mice. ⁶¹	Zhang J...Wu S	31691189	2020
3	Nrf2 knockout dysregulates iron metabolism and increases the hemolysis through ROS in aging mice. ⁶¹	Liu Z...Chang YZ	32450168	2020
4	Retrospective Evaluation of Relationship Between Iron Overload and Transplantation Complications in Pediatric Patient Who Underwent Allogeneic Stem Cell Transplantation Due to Acute Leukemia and Myelodysplastic Syndrome. ⁶¹	Kupesiz FT...Kupesiz A	32427707	2020
5	The effect of transfusion on immune responses in thalassemia. ⁶¹	Politou M...Voskaridou E	32244102	2020
6	Erythrocyte transfusions increased the risk of elevated serum ferritin in very low birthweight infants and were associated with altered longitudinal growth. ⁶¹	Alm S...Domellof M	31782205	2020
7	Cyclophosphamide induces a significant increase in iron content in the liver and spleen of mice. ⁶¹	Sheng Y...Liu Y	32129080	2020
8	Consequences of parenteral iron-dextran loading investigated in minipigs. A new model of transfusional iron overload. ⁶¹	Jensen PD...Kjaergaard B	32353700	2020
9	A mitophagic response to iron overload-induced oxidative damage associated with the PINK1/Parkin pathway in pancreatic beta cells. ⁶¹	Zhang L...Liang L	32179427	2020
10	Intracranial iron distribution and quantification in aceruloplasminemia: A case study. ⁶¹	Zhou L...Haacke EM	32114188	2020
11	Comparison of global strain values of myocardium in beta-thalassemia major patients with iron load using specific feature tracking in cardiac magnetic resonance imaging. ⁶¹	Rezaeian N...Golshan R	32346846	2020
12	Endometriosis: The Role of Iron Overload and Ferroptosis. ⁶¹	Ng SW...Norwitz ER	32077077	2020
13	Quantitative Iron Neuroimaging Can Be Used to Assess the Effects of Minocycline in an Intracerebral Hemorrhage Minipig Model. ⁶¹	Yang Y...Chen T	31696415	2020
14	Synthesis, characterization, biological activity and electrochemistry studies of iron(III) complex with curcumin-oxime ligand. ⁶¹	Ozbolat G...Alizadeh Yegani A	32497256	2020
15	Enhancing the chemotherapeutic efficacy of platinum prodrug nanoparticles and inhibiting cancer metastasis by targeting iron homeostasis. ⁶¹	Ding F...Xiao H	32364553	2020
16	Leukocyte telomere length in patients with transfusion-dependent thalassemia. ⁶¹	Nanthatanti N...Chattipakorn N	32487251	2020
17	Correcting β-thalassemia by combined therapies that restrict iron and modulate erythropoietin activity. ⁶¹	Casu C...Rivella S	32556142	2020
18	Cardiac T2* MR in patients with thalassemia major: a 10-year long-term follow-up. ⁶¹	Daar S...Pennell DJ	32556452	2020
19	Iron overload alters the energy metabolism in patients with myelodysplastic syndromes: results from the multicenter FISM BIOFER study. ⁶¹	Cilloni D...Frassoni F	32514107	2020
20	Supportive care during pediatric hematopoietic stem cell transplantation: beyond infectious diseases. A report from workshops on supportive care of the Pediatric Diseases Working Party (PDWP) of the European Society for Blood and Marrow Transplantation (EBMT). ⁶¹	Nava T...Bader P	32029909	2020
21	Population-based study of serum ferritin in early pregnancy and adverse perinatal outcomes. ⁶¹	Ray JG...Park AL	32548847	2020
22	Huperzine A, reduces brain iron overload and alleviates cognitive deficit in mice exposed to chronic intermittent hypoxia. ⁶¹	An JR...Ji ES	32209423	2020
23	Evaluation of the efficacy and safety of deferiprone compared with deferasirox in paediatric patients with transfusion-dependent haemoglobinopathies (DEEP-2): a multicentre, randomised, open-label, non-inferiority, phase 3 trial. ⁶¹	Maggio A...Ceci A	32470438	2020
24	Study on ferroptosis pathway that operates in hypertensive brain damage. ⁶¹	Yang J...Gao Y	32564622	2020
25	Characterization of two siderophores produced by Bacillus megaterium: A preliminary investigation into their potential as therapeutic agents. ⁶¹	Chuljerm H...Cilibrizzi A	32565293	2020
26	Fetal liver hepcidin secures iron stores in utero. ⁶¹	Kammerer L...Lakhal-Littleton S	32542311	2020
27	Regulation of iron homeostasis through the erythroferrone-hepcidin axis in sickle cell disease. ⁶¹	Mangaonkar AA...Kutlar A	32030737	2020
28	Associations of iron status with apolipoproteins and lipid ratios: a cross-sectional study from the China Health and Nutrition Survey. ⁶¹	Zhou B...Yuan G	32546165	2020
29	Blood utilization and characteristics of patients treated with chronic transfusion therapy in a large cohort of Brazilian patients with sickle cell disease. ⁶¹	Kelly S...NHLBI Recipient Epidemiology Donor Evaluation Study (REDS-III) International Component-Brazil	32579245	2020
30	The planimetric Grothoff's criteria by cardiac magnetic resonance can improve the specificity of left ventricular non-compaction diagnosis in thalassemia intermedia. ⁶¹	Macaione F...Pepe A	32086653	2020
31	CMR for myocardial iron overload quantification: calibration curve from the MIOT Network. ⁶¹	Meloni A...Pepe A	32052169	2020
32	Bull's eye maculopathy associated with hereditary hemochromatosis. ⁶¹	Bellsmith KN...Lujan BJ	32258826	2020
33	Iron overload as a risk factor for hepatic ischemia-reperfusion injury in liver transplantation: Potential role of ferroptosis. ⁶¹	Yamada N...Takahashi M	31909544	2020
34	Iron kinetics following treatment with sucroferric oxyhydroxide or ferric citrate in healthy rats and models of anaemia, iron overload or inflammation. ⁶¹	Floege J...Sprague SM	32259248	2020
35	Iron Overload is Associated with Delayed Engraftment and Increased Non-Relapse Mortality in Recipients of Umbilical Cord Blood Hematopoietic Cell Transplantation. ⁶¹	Malki MMA...Pullarkat V	32534103	2020
36	Evaluation of liver iron overload with R2* relaxometry with versus without fat suppression: both are clinically accurate but there are differences. ⁶¹	Plaikner M...Henninger B	32535737	2020
37	A hybrid (iron-fat-water) phantom for liver iron overload quantification in the presence of contaminating fat using magnetic resonance imaging. ⁶¹	Mobini N...Saligheh Rad H	31732894	2020
38	Transfusional iron overload in patients receiving autologous stem cell transplantation: An underestimated problem requiring further consideration. ⁶¹	Bauduer F...Recanzone H	32540346	2020
39	Tetramethylpyrazine alleviates iron overload damage in vascular endothelium via upregulating DDAHII expression. ⁶¹	Zhou Q...He M	32135237	2020
40	Polychlorinated biphenyl quinone induces hepatocytes iron overload through up-regulating hepcidin expression. ⁶¹	Liu J...Song Y	32278200	2020
41	Iron overload and periodontal status in patients with sickle cell anaemia: A case series. ⁶¹	Costa SA...Carvalho Souza SF	32189376	2020
42	Dysmetabolic iron overload syndrome and its relationship with HFE gene mutations and with liver steatosis. ⁶¹	Castiella A...Burnia Group	32359860	2020
43	Failure to follow up on a medically actionable finding from direct to consumer genetic testing: A case report. ⁶¹	Garmany R...Kullo IJ	32329251	2020
44	Iron and Chelation in Biochemistry and Medicine: New Approaches to Controlling Iron Metabolism and Treating Related Diseases. ⁶¹	Kontoghiorghes GJ...Kontoghiorghe CN	32545424	2020
45	Prevalence of left ventricular hypertrabeculation/noncompaction among patients with congenital dyserythropoietic anemia Type 1 (CDA1). ⁶¹	Abramovich-Yoffe H...Levitas A	32512057	2020
46	Iron chelation by deferiprone does not rescue the Niemann-Pick Disease Type C1 mouse model. ⁶¹	Hung YH...Bush AI	32100150	2020
47	Integrated analysis of the molecular pathogenesis of FDXR-associated disease. ⁶¹	Slone JD...Huang T	32499495	2020
48	Fetal Cardiac Cellular Damage Caused by Anemia in Utero in Hb Bart's Disease. ⁶¹	Jatavan P...Chattipakorn N	32520686	2020
49	Major Depression in Children with Transfusion-Dependent Thalassemia Is Strongly Associated with the Combined Effects of Blood Transfusion Rate, Iron Overload, and Increased Pro-inflammatory Cytokines. ⁶¹	Al-Hakeim HK...Maes M	32335809	2020
50	Transfusion-related Iron Overload (TRIO) in Children With Leukemia. ⁶¹	Cacciotti C...Athale U	32487848	2020

Sources

Genes for Rare Hereditary Hemochromatosis

Sources

Variations for Rare Hereditary Hemochromatosis

Sources

Expression for Rare Hereditary Hemochromatosis

Search GEO for disease gene expression data for Rare Hereditary Hemochromatosis.

Sources

Pathways for Rare Hereditary Hemochromatosis

Sources

GO Terms for Rare Hereditary Hemochromatosis

Sources

Sources for Rare Hereditary Hemochromatosis

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia