MCID: RRH023
MIFTS: 41

Rare Hereditary Hemochromatosis

Categories: Cardiovascular diseases, Endocrine diseases, Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases, Skin diseases

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:

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

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

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 Top Affiliating Genes
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:



Diseases related to Rare Hereditary Hemochromatosis

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%)

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
1
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
2
Sofosbuvir Approved Phase 4 1190307-88-0 45375808
3
Ledipasvir Approved Phase 4 1256388-51-8 67505836
4
Velpatasvir Approved, Investigational Phase 4 1377049-84-7 67683363
5
Deferoxamine Approved, Investigational Phase 4 70-51-9 2973
6
Metformin Approved Phase 4 657-24-9 14219 4091
7
Iron Approved, Experimental Phase 4 15438-31-0, 7439-89-6 27284 23925
8
Deferasirox Approved, Investigational Phase 4 201530-41-8 5493381
9
Vitamin C Approved, Nutraceutical Phase 4 50-81-7 5785 54670067
10 Dextrans Phase 4
11 Iron-Dextran Complex Phase 4
12 Anticoagulants Phase 4
13 Plasma Substitutes Phase 4
14 Blood Substitutes Phase 4
15 Liver Extracts Phase 4
16 Anti-Infective Agents Phase 4
17 Antiviral Agents Phase 4
18 Lactoferrin Phase 4
19 Ledipasvir, sofosbuvir drug combination Phase 4
20 Antioxidants Phase 4
21 Protective Agents Phase 4
22 Vitamins Phase 4
23 Hypoglycemic Agents Phase 4
24 Antilymphocyte Serum Phase 4
25 Iron Supplement Phase 4
26 Pharmaceutical Solutions Phase 4
27 Iron Chelating Agents Phase 4
28 Chelating Agents Phase 4
29 Immunosuppressive Agents Phase 4
30 Cyclosporins Phase 4
31 Micronutrients Phase 4
32 Trace Elements Phase 4
33 Nutrients Phase 4
34 Central Nervous System Stimulants Phase 4
35
Zinc Approved, Investigational Phase 3 7440-66-6 32051
36
Sargramostim Approved, Investigational Phase 2, Phase 3 83869-56-1, 123774-72-1
37
Lenograstim Approved, Investigational Phase 2, Phase 3 135968-09-1
38 Orange Approved Phase 3
39
Amlodipine Approved Phase 3 88150-42-9 2162
40
Darbepoetin alfa Approved, Investigational Phase 2, Phase 3 11096-26-7, 209810-58-2
41
carbamide peroxide Approved Phase 2, Phase 3 124-43-6
42
Hydroxyurea Approved Phase 3 127-07-1 3657
43
tannic acid Approved Phase 3 1401-55-4
44
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
45 Hematinics Phase 2, Phase 3
46 Zinc Supplement Phase 3
47 Antihypertensive Agents Phase 3
48 Vasodilator Agents Phase 3
49 Calcium, Dietary Phase 3
50 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

Genetic Tests for Rare Hereditary Hemochromatosis

Anatomical Context for Rare Hereditary Hemochromatosis

MalaCards organs/tissues related to Rare Hereditary Hemochromatosis:

40
Liver, Bone, Heart, Brain, Bone Marrow, Testes, Kidney

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
31838956 2020
2
Ionizing Radiation Exacerbates the Bone Loss Induced by Iron Overload in Mice. 61
31691189 2020
3
Nrf2 knockout dysregulates iron metabolism and increases the hemolysis through ROS in aging mice. 61
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
32427707 2020
5
The effect of transfusion on immune responses in thalassemia. 61
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
31782205 2020
7
Cyclophosphamide induces a significant increase in iron content in the liver and spleen of mice. 61
32129080 2020
8
Consequences of parenteral iron-dextran loading investigated in minipigs. A new model of transfusional iron overload. 61
32353700 2020
9
A mitophagic response to iron overload-induced oxidative damage associated with the PINK1/Parkin pathway in pancreatic beta cells. 61
32179427 2020
10
Intracranial iron distribution and quantification in aceruloplasminemia: A case study. 61
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
32346846 2020
12
Endometriosis: The Role of Iron Overload and Ferroptosis. 61
32077077 2020
13
Quantitative Iron Neuroimaging Can Be Used to Assess the Effects of Minocycline in an Intracerebral Hemorrhage Minipig Model. 61
31696415 2020
14
Synthesis, characterization, biological activity and electrochemistry studies of iron(III) complex with curcumin-oxime ligand. 61
32497256 2020
15
Enhancing the chemotherapeutic efficacy of platinum prodrug nanoparticles and inhibiting cancer metastasis by targeting iron homeostasis. 61
32364553 2020
16
Leukocyte telomere length in patients with transfusion-dependent thalassemia. 61
32487251 2020
17
Correcting β-thalassemia by combined therapies that restrict iron and modulate erythropoietin activity. 61
32556142 2020
18
Cardiac T2* MR in patients with thalassemia major: a 10-year long-term follow-up. 61
32556452 2020
19
Iron overload alters the energy metabolism in patients with myelodysplastic syndromes: results from the multicenter FISM BIOFER study. 61
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
32029909 2020
21
Population-based study of serum ferritin in early pregnancy and adverse perinatal outcomes. 61
32548847 2020
22
Huperzine A, reduces brain iron overload and alleviates cognitive deficit in mice exposed to chronic intermittent hypoxia. 61
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
32470438 2020
24
Study on ferroptosis pathway that operates in hypertensive brain damage. 61
32564622 2020
25
Characterization of two siderophores produced by Bacillus megaterium: A preliminary investigation into their potential as therapeutic agents. 61
32565293 2020
26
Fetal liver hepcidin secures iron stores in utero. 61
32542311 2020
27
Regulation of iron homeostasis through the erythroferrone-hepcidin axis in sickle cell disease. 61
32030737 2020
28
Associations of iron status with apolipoproteins and lipid ratios: a cross-sectional study from the China Health and Nutrition Survey. 61
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
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
32086653 2020
31
CMR for myocardial iron overload quantification: calibration curve from the MIOT Network. 61
32052169 2020
32
Bull's eye maculopathy associated with hereditary hemochromatosis. 61
32258826 2020
33
Iron overload as a risk factor for hepatic ischemia-reperfusion injury in liver transplantation: Potential role of ferroptosis. 61
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
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
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
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
31732894 2020
38
Transfusional iron overload in patients receiving autologous stem cell transplantation: An underestimated problem requiring further consideration. 61
32540346 2020
39
Tetramethylpyrazine alleviates iron overload damage in vascular endothelium via upregulating DDAHII expression. 61
32135237 2020
40
Polychlorinated biphenyl quinone induces hepatocytes iron overload through up-regulating hepcidin expression. 61
32278200 2020
41
Iron overload and periodontal status in patients with sickle cell anaemia: A case series. 61
32189376 2020
42
Dysmetabolic iron overload syndrome and its relationship with HFE gene mutations and with liver steatosis. 61
32359860 2020
43
Failure to follow up on a medically actionable finding from direct to consumer genetic testing: A case report. 61
32329251 2020
44
Iron and Chelation in Biochemistry and Medicine: New Approaches to Controlling Iron Metabolism and Treating Related Diseases. 61
32545424 2020
45
Prevalence of left ventricular hypertrabeculation/noncompaction among patients with congenital dyserythropoietic anemia Type 1 (CDA1). 61
32512057 2020
46
Iron chelation by deferiprone does not rescue the Niemann-Pick Disease Type C1 mouse model. 61
32100150 2020
47
Integrated analysis of the molecular pathogenesis of FDXR-associated disease. 61
32499495 2020
48
Fetal Cardiac Cellular Damage Caused by Anemia in Utero in Hb Bart's Disease. 61
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
32335809 2020
50
Transfusion-related Iron Overload (TRIO) in Children With Leukemia. 61
32487848 2020

Variations for Rare Hereditary Hemochromatosis

Expression for Rare Hereditary Hemochromatosis

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

Pathways for Rare Hereditary Hemochromatosis

GO Terms for Rare Hereditary Hemochromatosis

Sources for Rare Hereditary Hemochromatosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
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32 ICD10
33 ICD10 via Orphanet
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44 MESH via Orphanet
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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