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MCID: CNG027
MIFTS: 53

Congenital Hemolytic Anemia

Categories: Blood diseases, Genetic diseases, Immune diseases, Metabolic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Congenital Hemolytic Anemia

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MalaCards integrated aliases for Congenital Hemolytic Anemia:

Name: Congenital Hemolytic Anemia 12 77 54 6 15
Anemia, Hemolytic, Congenital 45 74
Anemia Hemolytic Congenital 54 56
Hereditary Hemolytic Anemia 12

Classifications:

MalaCards categories:
Global: Rare diseases Metabolic diseases Genetic diseases
Anatomical: Immune diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 34


External Ids:

Disease Ontology 12 DOID:589
ICD9CM 36 282 282.9
MeSH 45 D000745
NCIt 51 C34379
SNOMED-CT 69 38911009 42601008
ICD10 34 D58.8 D58.9
UMLS 74 C0002881
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Summaries for Congenital Hemolytic Anemia

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MalaCards based summary : Congenital Hemolytic Anemia, also known as anemia, hemolytic, congenital, is related to congenital nonspherocytic hemolytic anemia and pyruvate kinase deficiency of red cells. An important gene associated with Congenital Hemolytic Anemia is SPTA1 (Spectrin Alpha, Erythrocytic 1), and among its related pathways/superpathways are Vesicle-mediated transport and Carbon metabolism. The drugs Omeprazole and Iron have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and kidney, and related phenotypes are no effect and hematopoietic system

Wikipedia : 77 Congenital hemolytic anemia refers to hemolytic anemia which is primarily due to congenital... more...

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Related Diseases for Congenital Hemolytic Anemia

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Diseases in the Hemolytic Anemia family:

Anemia, Autoimmune Hemolytic Congenital Hemolytic Anemia
Hemolytic Anemia Due to Erythrocyte Adenosine Deaminase Overproduction

Diseases related to Congenital Hemolytic Anemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 93)
# Related Disease Score Top Affiliating Genes
1 congenital nonspherocytic hemolytic anemia 32.3 G6PD GPI PKLR
2 pyruvate kinase deficiency of red cells 30.6 G6PD PKLR
3 hereditary spherocytosis 30.5 ANK1 G6PD HBB HBE1 HBG1 PKLR
4 pyropoikilocytosis, hereditary 30.4 SPTA1 SPTB
5 deficiency anemia 29.6 EPO G6PD HBA2 HBB HP IL3
6 hemolytic anemia 29.2 ANK1 EPO G6PD GPI HBA2 HBB
7 thalassemia 28.4 EPO HBA2 HBB HBD HBE1 HBG1
8 hemoglobinopathy 28.0 EPO HBA2 HBB HBD HBE1 HBG1
9 triosephosphate isomerase deficiency 11.6
10 congenital dyserythropoietic anemia 11.5
11 glycogen storage disease xii 11.2
12 pseudohyperkalemia, familial, 2, due to red cell leak 11.1
13 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome 10.4 HBB HBG1
14 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome 10.4 HBB HBG1
15 hemoglobin zurich 10.4 HBA2 HBB
16 splenic infarction 10.4 HBB PIEZO1
17 methemoglobinemia, beta-globin type 10.4 HBA2 HBB
18 glutathione peroxidase deficiency 10.4 HBA2 HBB
19 immune hydrops fetalis 10.3 HBA2 PIEZO1
20 glucosephosphate isomerase deficiency 10.3 G6PD GPI
21 heinz body anemias 10.3 HBA2 HBB
22 acquired polycythemia 10.3 EPO TF
23 miliary tuberculosis 10.3 ADA EPO
24 folic acid deficiency anemia 10.3 EPO TF
25 hemoglobinemia 10.3 HBB HP
26 hypochromic microcytic anemia 10.3 HBA2 HBB TF
27 retinitis pigmentosa and erythrocytic microcytosis 10.2 EPO IL3
28 chronic inflammatory demyelinating polyneuropathy 10.2 HP TF
29 neonatal jaundice 10.2 G6PD PKLR SPTA1
30 spherocytosis, type 3 10.2 HBB SPTA1
31 erythroleukemia, familial 10.2 EPO HBB HBG1
32 microcytic anemia 10.2 EPO HBA2 TF
33 blackwater fever 10.2 G6PD HP
34 neonatal anemia 10.2 EPO HBA2 HBG1
35 glucosephosphate dehydrogenase deficiency 10.2 G6PD HBB HP
36 methemoglobinemia 10.2 G6PD HBB HP
37 melancholia 10.2 HP TF
38 iron overload in africa 10.1 HBB HP TF
39 plasmodium falciparum malaria 10.1 G6PD HBB HP
40 hereditary elliptocytosis 10.1 ANK1 SPTA1 SPTB
41 vaginal discharge 10.1 HP SPTB
42 hemoglobin lepore-beta-thalassemia syndrome 10.1 HBB HBD
43 spherocytosis, type 2 10.1 HBB HBE1 SPTB
44 hemoglobin d disease 10.0 HBB HBD
45 spherocytosis, type 5 10.0
46 phosphoglycerate kinase deficiency 10.0
47 congenital disorder of glycosylation, type ia 10.0 HP TF
48 malignant secondary hypertension 10.0 HBB HBD
49 anemia, nonspherocytic hemolytic, due to g6pd deficiency 10.0 G6PD HP
50 hemosiderosis 10.0

Graphical network of the top 20 diseases related to Congenital Hemolytic Anemia:



Diseases related to Congenital Hemolytic Anemia
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Symptoms & Phenotypes for Congenital Hemolytic Anemia

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GenomeRNAi Phenotypes related to Congenital Hemolytic Anemia according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.92 ADA ANK1 ATP11C EPO G6PD GPI

MGI Mouse Phenotypes related to Congenital Hemolytic Anemia:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.21 ADA ANK1 ATP11C EPO G6PD GPI
2 homeostasis/metabolism MP:0005376 10.17 ADA ANK1 ATP11C EPO G6PD GPI
3 cardiovascular system MP:0005385 10.06 ADA ANK1 EPO G6PD GPI HP
4 immune system MP:0005387 10.03 ADA ANK1 ATP11C EPO GPI HP
5 mortality/aging MP:0010768 9.8 ADA ANK1 EPO G6PD GPI HBA2
6 liver/biliary system MP:0005370 9.7 ADA ANK1 EPO GPI HP SPTA1
7 normal MP:0002873 9.23 ADA ATP11C EPO HBE1 PIEZO1 PKLR
Sources

Drugs & Therapeutics for Congenital Hemolytic Anemia

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Drugs for Congenital Hemolytic Anemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 463)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Omeprazole Approved, Investigational, Vet_approved Phase 4,Phase 1 73590-58-6 4594
2
Iron Approved, Experimental Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 7439-89-6, 15438-31-0 27284 23925
3
Hydroxyurea Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 127-07-1 3657
4
Deferiprone Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 30652-11-0 2972
5
Deferoxamine Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 70-51-9 2973
6
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 1,Not Applicable,Early Phase 1 22916-47-8 4189
7
Mycophenolic acid Approved Phase 4,Phase 2,Phase 1,Not Applicable 24280-93-1 446541
8
Methotrexate Approved Phase 4,Phase 2,Phase 1 1959-05-2, 59-05-2 126941
9
Basiliximab Approved, Investigational Phase 4 179045-86-4, 152923-56-3
10
leucovorin Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 58-05-9 143 6006
11
Morphine Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 57-27-2 5288826
12
Deferasirox Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 201530-41-8 5493381
13
Zoledronic Acid Approved Phase 4,Phase 2,Phase 3,Phase 1 118072-93-8 68740
14
Cyclophosphamide Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 50-18-0, 6055-19-2 2907
15
Proguanil Approved Phase 4,Phase 1,Phase 2,Not Applicable 500-92-5 4923
16
Tocopherol Approved, Investigational Phase 4,Phase 3,Not Applicable 1406-66-2 14986
17
chloroquine Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 54-05-7 2719
18
Ketamine Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 6740-88-1 3821
19
Guaifenesin Approved, Investigational, Vet_approved Phase 4,Phase 1,Phase 2,Not Applicable 93-14-1 3516
20
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4,Phase 2 437-38-7 3345
21
Sodium Citrate Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 68-04-2
22
Zinc sulfate Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 7733-02-0
23
Zinc Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 7440-66-6 32051
24
Hydromorphone Approved, Illicit Phase 4,Phase 3,Phase 2,Not Applicable 466-99-9 5284570
25
Primaquine Approved Phase 4,Phase 2,Phase 1,Not Applicable 90-34-6 4908
26
Velpatasvir Approved, Investigational Phase 4 1377049-84-7 67683363
27
Ledipasvir Approved Phase 4,Phase 2 1256388-51-8 67505836
28
Sofosbuvir Approved Phase 4,Phase 2 1190307-88-0 45375808
29
Dapsone Approved, Investigational Phase 4 80-08-0 2955
30
Peginterferon alfa-2a Approved, Investigational Phase 4,Phase 2 198153-51-4 5360545
31
Ribavirin Approved Phase 4,Phase 2 36791-04-5 37542
32
Acetaminophen Approved Phase 4,Phase 1,Not Applicable 103-90-2 1983
33
Tacrolimus Approved, Investigational Phase 4,Phase 2,Phase 1 104987-11-3 6473866 445643 439492
34
Busulfan Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 55-98-1 2478
35
Fludarabine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 75607-67-9, 21679-14-1 30751
36
Pyrimethamine Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2 58-14-0 4993
37
Amodiaquine Approved, Investigational Phase 4,Phase 1,Phase 2 86-42-0 2165
38
Sulfadoxine Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 2447-57-6 17134
39
Codeine Approved, Illicit Phase 4,Phase 1,Phase 2 76-57-3 5284371
40
Metformin Approved Phase 4,Early Phase 1 657-24-9 14219 4091
41
Ibuprofen Approved Phase 4,Phase 2,Not Applicable 15687-27-1 3672
42
Etonogestrel Approved, Investigational Phase 4 54048-10-1 6917715 40976
43
Desogestrel Approved Phase 4 54024-22-5 40973
44
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
45
Calcium Approved, Nutraceutical Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 7440-70-2 271
46
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 1406-16-2
47
Vitamin D3 Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 67-97-0 5280795 6221
48
Ergocalciferol Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 50-14-6 5280793
49
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 59-30-3 6037
50
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Not Applicable 59-02-9 14985

Interventional clinical trials:

(show top 50) (show all 875)
# Name Status NCT ID Phase Drugs
1 Evaluation of the Efficacy in Decreasing Iron Absorption in Patients With Congenital Dyserythropoietic Anemia Type I by Treatment With LOSEC Unknown status NCT01795794 Phase 4 omeprazole
2 Mobile-Directly Observed Therapy on Adherence to Hydroxyurea Unknown status NCT02844673 Phase 4 Hydroxyurea
3 B Memory Cell Response to Vaccination With the 13-valent Pneumococcal Conjugate Vaccine in Asplenic Individuals Unknown status NCT01846923 Phase 4
4 The Effect of Vitamin D Supplementation on Calcium Excretion in Thalassemia: a Dose Response Study Unknown status NCT01323608 Phase 4 Vitamin D3;Placebo
5 Combined Chelation Treatment With Deferiprone and Deferoxamine in Thalassemia Major Unknown status NCT00103753 Phase 4 deferiprone
6 Efficacy of Basiliximab in the Prevention of Acute Graft-versus-host Disease in Unrelated Allogeneic Hematopoietic Stem Cell Transplantation Therapy for Thalassemia Major Unknown status NCT02342145 Phase 4 Basiliximab,;cyclosporine A;Methotrexate;Mycophenolate mofetil
7 Efficacy of Yinzhihuang Oral Liquid on Indirect Bilirubin of Neonates With Glucose-6-phosphate Dehydrogenase Deficiency Unknown status NCT02594904 Phase 4 Yinzhihuang Oral Liquid
8 Intranasal Fentanyl Versus Intravenous Morphine in the Treatment of Severe Painful Sickle Cell Crises in Children Completed NCT03682211 Phase 4 Fentanyl Citrate;Morphine sulphate
9 Zinc Supplementation on Cellular Immunity in Thalassemia Major Completed NCT03117192 Phase 4 Zinc Sulfate;Sucrose Syrup
10 Rejuvesol® Washed RBC in Sickle Cell Patients Requiring Frequent Transfusions Completed NCT02731157 Phase 4 Rejuvesol
11 Efficacy and Safety Study of Deferasirox in Patients With Non-transfusion Dependent Thalassemia Completed NCT01709838 Phase 4 ICL670 deferasirox
12 Future of Spermatogenesis in Men With Sickle Cell Disease Medically Treated Completed NCT01609192 Phase 4 Hydrea® (hydroxyurea )
13 Intranasal Fentanyl for Initial Treatment of a Vaso-occlusive Crisis Completed NCT01482091 Phase 4 Fentanyl Citrate;Normal Saline
14 Efficacy Study of the Use of Sequential DFP-DFO Versus DFP Completed NCT00733811 Phase 4 Deferiprone (DFP) and Deferoxamine (DFO);Deferiprone (DFP)
15 Evaluation of Efficacy of Zoledronic Acid in Patients With Haemoglobin Syndromes (Thalassemia and Sicle Cell Anaemia) and Risk of Skeletal Events Completed NCT00346242 Phase 4 Zoledronic Acid
16 Pneumococcal Vaccination for Splenectomised Thalassemia Major Patients in Indonesia Completed NCT03095326 Phase 4 Sucrose
17 Evaluation of the Impact of Renal Function on the Pharmacokinetics of SIKLOS ® (DARH) Completed NCT02522104 Phase 4 Siklos
18 Comparing Acute Pain Management Protocols for Patients With Sickle Cell Disease Completed NCT02222246 Phase 4 Hydromorphone (Standardized, weight-based dosing);Morphine Sulfate (Standardized, weight-based dosing);Hydromorphone (Patient Specific dosing);Morphine Sulfate (Patient Specific dosing)
19 An Epidemiological Study to Assess Iron Overload Using MRI in Patients With Transfusional Siderosis (TIMES Study) Completed NCT01736540 Phase 4
20 Post Hematopoietic Stem Cell Transplantation Completed NCT01610297 Phase 4 ICL670
21 Combo Chelation Trial Completed NCT00901199 Phase 4 Combo Chelation with Deferasirox (Exjade) and Desferal (DFO)
22 Pilot Study for Patients With Poor Response to Deferasirox Completed NCT00749515 Phase 4 Deferoxamine;Deferasirox
23 Safety and Tolerability of Low Dose Primaquine Completed NCT02434952 Phase 4 Dihydroartemisinin piperaquine (DHA PP);Primaquine
24 Extension Study of the Efficacy and Safety of Deferasirox Treatment in Beta-thalassemia Patients With Transfusional Hemosiderosis (Study Amended to 2-year Duration) Completed NCT00171301 Phase 4 Deferasirox
25 Efficacy Study in Removing Excess Iron From the Heart Completed NCT00105495 Phase 4 Ferriprox (deferiprone);Desferal (deferoxamine)
26 Intensive Combined Chelation Therapy for Iron-Induced Cardiac Disease in Patients With Thalassemia Major Completed NCT00800761 Phase 4 Deferoxamine and Deferiprone;Deferoxamine
27 Hyalornic Acid Level in β-Thalassemic Children Treated for Hepatitis C Virus Completed NCT03961828 Phase 4 Ledipasvir 90 MG / Sofosbuvir 400 MG [Harvoni]
28 Sofosbuvir/Ledipasvir for Hepatitis C Genotype 1-6 in Patients With Transfusion-Dependent Thalassemia: An Open Label Trial Completed NCT03032666 Phase 4 sofosbuvir/velpatasvir
29 Phase IV Study to Gather More Information About the Safety of ACZONE Gel, 5% in Treating Subjects With Acne Who Have G6PD Deficiency Completed NCT00243542 Phase 4 ACZONE Gel, 5%;Vehicle
30 This Study Will Evaluate Efficacy and Safety of Deferasirox in Patients With Myelodysplastic Syndromes (MDS), Thalassemia and Rare Anemia Types Having Transfusion-induced Iron Overload. Completed NCT01250951 Phase 4 Deferasirox
31 Pegasys® Plus Ribavirin in Thalassemic Patients With Hepatitis C Virus Infection Completed NCT00707850 Phase 4 PEGASYS® (Peginterferon Alfa-2a (40KD)) Plus COPEGUS® (Ribavirin)
32 Evaluating the Efficacy of Deferasirox in Transfusion Dependent Chronic Anaemias (Myelodysplastic Syndrome, Beta-thalassaemia Patients) With Chronic Iron Overload Completed NCT00564941 Phase 4 deferasirox
33 Colla Corii Asini Treating Anemia in Pregnant Women With Thalassemia(Presenting the Syndrome of Blood Deficiency) Recruiting NCT03374111 Phase 4 Colla corii asini;a Simulate Agent of Colla corii asini granule
34 Does IV Acetaminophen Reduce Opioid Requirement in Pediatric Patients With Acute Sickle Cell Crises? Recruiting NCT03541980 Phase 4 Acetaminophen;Normal saline
35 Study on the Mechanism of Colla Corri Asini in the Treatment of Thalassemia Patients With Pregnancy Anemia Recruiting NCT03392298 Phase 4 Colla corii asini
36 Haploidentical Hematopoietic Stem Cell Transplantation for Patients With Thalassemia Major Recruiting NCT03171831 Phase 4 Busulfan;Cyclophosphamide;Fludarabine;Mycophenolate mofetil;Tacrolimus;Methotrexate;Thymoglobulin;Basiliximab
37 The Potential Hepatoprotective Effect of Metformin in Patients With Beta Thalassemia Major Recruiting NCT02984475 Phase 4 Metformin
38 Safety and Efficacy of Early Treatment With Deferiprone in Infants and Young Children Recruiting NCT03591575 Phase 4 Deferiprone oral solution;Placebo
39 Efficacy and Safety of Ferriprox® in Patients With Sickle Cell Disease or Other Anemias Recruiting NCT02041299 Phase 4 Deferiprone;Deferoxamine
40 Enhancing Preventive Therapy of Malaria In Children With Sickle Cell Anemia in East Africa (EPiTOMISE) Recruiting NCT03178643 Phase 4 Proguanil Oral Tablet;Sulfadoxine/Pyrimethanine-Amodiaquine (SP-AQ);Dihydroartemisinin-Piperaquine (DP)
41 L-arginine Versus Sildenafil in Children With Beta Thalassemia Associated With Pulmonary Hypertension Recruiting NCT03402191 Phase 4 L-arginine;Sildenafil
42 Endothelial Monocyte-activating Polypeptide-II in Egyptian Sickle Patients Active, not recruiting NCT03903133 Phase 4 Vitamin E
43 Contraception in Women With Sickle Cell Disease Active, not recruiting NCT02594462 Phase 4 etonogestrel-releasing implant contraceptive
44 Risk Clinical Stratification of Sickle Cell Disease in Nigeria, Assessment of Efficacy/Safety of Hydroxyurea Treatment Active, not recruiting NCT02149537 Phase 4 hydroxyurea
45 Long-term Safety and Efficacy of Ferriprox® in Iron Overloaded Patients With Sickle Cell Disease or Other Anemias Enrolling by invitation NCT02443545 Phase 4 Deferiprone
46 A Randomized Phase IV Control Trial of Single High Dose Oral Vitamin D3 in Pediatric Patients Undergoing HSCT Enrolling by invitation NCT03176849 Phase 4
47 Assessing a Risk Model for G6PD Deficiency Suspended NCT03337152 Phase 4 primaquine;chloroquine + primaquine
48 Ketorolac Versus Ibuprofen to Treat Painful Episodes of Sickle Cell Disease Terminated NCT00115336 Phase 4 Intravenous Ketorolac;Ibuprofen
49 Ibuprofen and Opioid (Morphine or Diamorphine) for Acute Pain in Sickle Cell Disease - Sickle With Ibuprofen & Morphine Terminated NCT00880373 Phase 4 Ibuprofen;Placebo;Diamorphine or Morphine
50 Immunogenicity and Safety Study of Pneumococcal 7-Valent Conjugate Vaccine in Sickle Cell Disease Infants. Terminated NCT00368186 Phase 4

Search NIH Clinical Center for Congenital Hemolytic Anemia

Cochrane evidence based reviews: anemia, hemolytic, congenital

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Genetic Tests for Congenital Hemolytic Anemia

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Anatomical Context for Congenital Hemolytic Anemia

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MalaCards organs/tissues related to Congenital Hemolytic Anemia:

42
Bone, Bone Marrow, Kidney, Liver, Testes, Endothelial, T Cells
Sources

Publications for Congenital Hemolytic Anemia

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Articles related to Congenital Hemolytic Anemia:

(show top 50) (show all 89)
# Title Authors Year
1
Severe congenital hemolytic anemia caused by a novel compound heterozygous PKLR gene mutation in a Chinese boy. ( 30628965 )
2019
2
Aberrant splicing contributes to severe α-spectrin-linked congenital hemolytic anemia. ( 31038472 )
2019
3
Whole-exome analysis to detect congenital hemolytic anemia mimicking congenital dyserythropoietic anemia. ( 29936674 )
2018
4
Congenital Hemolytic Anemia. ( 28189176 )
2017
5
Coinheritance of Hb Bristol-Alesha [β67(E11)Val→Met; HBB: c.202G>A] and the α212 Patchwork Allele in a Brazilian Child with Severe Congenital Hemolytic Anemia. ( 28670945 )
2017
6
Hematologic outcomes after total splenectomy and partial splenectomy for congenital hemolytic anemia. ( 26613837 )
2016
7
ATP11C is a major flippase in human erythrocytes and its defect causes congenital hemolytic anemia. ( 26944472 )
2016
8
Acquired and Congenital Hemolytic Anemia. ( 27252179 )
2016
9
Genetic diagnosis for congenital hemolytic anemia. ( 27725587 )
2016
10
Clinical outcomes of splenectomy in children: report of the splenectomy in congenital hemolytic anemia registry. ( 25382665 )
2015
11
Pyruvate kinase deficiency and severe congenital hemolytic anemia in a double heterozygous patient with paternal transmission of an early germ-line de novo mutation. ( 26315463 )
2015
12
Post-transfusion hypertension and seizure in congenital hemolytic anemia: a case report and literature review. ( 24473404 )
2014
13
Congenital dyserythropoietic anemia type 1 with a novel mutation in the CDAN1 gene previously diagnosed as congenital hemolytic anemia. ( 23605369 )
2013
14
Hemoglobin J--as a cause of congenital hemolytic anemia. ( 21390522 )
2011
15
Transient pure red blood cell aplasia as clinical presentation of congenital hemolytic anemia: a case report. ( 19829866 )
2009
16
[Congenital hemolytic anemia due to glucose-6-phosphate dehydrogenase deficiency]. ( 20099666 )
2009
17
Partial splenectomy for children with congenital hemolytic anemia and massive splenomegaly. ( 18358283 )
2008
18
Vasoconstrictor-induced hypertension following multiple blood transfusions in children with congenital hemolytic anemia. ( 19377226 )
2008
19
Hereditary pyropoikilocytosis: a rare but potentially severe form of congenital hemolytic anemia. ( 17279012 )
2007
20
[Congenital hemolytic anemia]. ( 15773339 )
2005
21
Hemoglobinopathies and other congenital hemolytic anemia. ( 15567909 )
2004
22
Congenital hemolytic anemia in Bangladesh: types and clinical manifestations. ( 12084953 )
2002
23
Post-transcriptional effects of interleukin-3, interferon-gamma, erythropoietin and butyrate on in vitro hemoglobin chain synthesis in congenital hemolytic anemia. ( 11522534 )
2001
24
Triosephosphate isomerase deficiency in a child with congenital hemolytic anemia and severe hypotonia. ( 9842650 )
1998
25
Unstable hemoglobin as a cause of congenital hemolytic anemia. ( 8979570 )
1996
26
Clinical features and splenic pathologic changes in patients with autoimmune hemolytic anemia and congenital hemolytic anemia. ( 8331977 )
1993
27
Possible congenital hemolytic anemia in prehistoric coastal inhabitants of Israel. ( 1853944 )
1991
28
Transplantation studies in mice with congenital hemolytic anemia. ( 2340652 )
1990
29
Erythropheresis in four cases of congenital hemolytic anemia (CHA). ( 2353021 )
1990
30
[Iron overload in congenital hemolytic anemia caused by pyruvate kinase deficiency. A major late complication]. ( 2141411 )
1990
31
Erythrocyte pyruvate kinase deficiency. A case of severe congenital hemolytic anemia. ( 2761512 )
1989
32
Adenosine deaminase (ADA) overproduction associated with congenital hemolytic anemia: case report and molecular analysis. ( 3164080 )
1988
33
A new glucose-6-phosphate dehydrogenase variant (G6PD Tsukui) associated with congenital hemolytic anemia. ( 3360447 )
1988
34
Clinicopathologic features of young and old sphha/sphha mice. Mutants with congenital hemolytic anemia. ( 3414779 )
1988
35
Congenital hemolytic anemia with Heinz bodies due to unstable hemoglobin. First report in Mexico. ( 3842916 )
1985
36
Altered spectrin association and membrane fragility without abnormal spectrin heat sensitivity in a case of congenital hemolytic anemia. ( 4025321 )
1985
37
Two cases of phosphofructokinase deficiency associated with congenital hemolytic anemia found in Japan. ( 6220601 )
1983
38
G6PD Sendagi: a new glucose-6-phosphate dehydrogenase variant associated with congenital hemolytic anemia. ( 6654337 )
1983
39
Pyruvate kinase "Göttingen 1,2": congenital hemolytic anemia, evidence of double heterozygosity, and lack of enzyme cooperativity. ( 7106777 )
1982
40
The Japanese family of congenital hemolytic anemia with high red cell membrane phosphatidyl choline and increased sodium transport. ( 7136463 )
1982
41
A new glucose-6-phosphate dehydrogenase variant (G6PD Nagano) associated with congenital hemolytic anemia. ( 7166314 )
1982
42
Long-term survival and reversal of iron overload after marrow transplantation in dogs with congenital hemolytic anemia. ( 6778539 )
1981
43
Successful long-term phenobarbital therapy of hyperbilirubinemia in congenital hemolytic anemia due to glucose phosphate isomerase deficiency. ( 7449787 )
1980
44
Abnormal red cell membrane phosphatase activity in an unidentified congenital hemolytic anemia. ( 224968 )
1979
45
Congenital hemolytic anemia due to hexokinase deficiency. ( 655151 )
1978
46
Red cell calcium leak in congenital hemolytic anemia with extreme microcytosis. ( 1244919 )
1976
47
Letter: Congenital hemolytic anemia with potassium loss. ( 4427630 )
1974
48
Congenital hemolytic anemia associated with dehydrated erythrocytes and increased potassium loss. ( 4851153 )
1974
49
Animal model of human disease. Congenital hemolytic anemia. ( 4715956 )
1973
50
Congenital hemolytic anemia in the Basenji dog due to erythrocyte pyruvate kinase deficiency. ( 4251418 )
1971
Sources

Variations for Congenital Hemolytic Anemia

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ClinVar genetic disease variations for Congenital Hemolytic Anemia:

6 (show all 24)
# Gene Variation Type Significance SNP ID Assembly Location
1 SPTA1 NM_003126.3(SPTA1): c.6672A> C (p.Glu2224Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs142775522 GRCh37 Chromosome 1, 158585122: 158585122
2 SPTA1 NM_003126.3(SPTA1): c.6672A> C (p.Glu2224Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs142775522 GRCh38 Chromosome 1, 158615332: 158615332
3 SPTA1 NM_003126.3(SPTA1): c.6600+5G> T single nucleotide variant Likely pathogenic rs1462060431 GRCh37 Chromosome 1, 158587322: 158587322
4 SPTA1 NM_003126.3(SPTA1): c.6600+5G> T single nucleotide variant Likely pathogenic rs1462060431 GRCh38 Chromosome 1, 158617532: 158617532
5 SPTA1 NM_003126.3(SPTA1): c.3291G> A (p.Trp1097Ter) single nucleotide variant Pathogenic rs1553231217 GRCh38 Chromosome 1, 158652551: 158652551
6 SPTA1 NM_003126.3(SPTA1): c.3291G> A (p.Trp1097Ter) single nucleotide variant Pathogenic rs1553231217 GRCh37 Chromosome 1, 158622341: 158622341
7 SPTA1 NM_003126.3(SPTA1): c.1688G> A (p.Arg563Gln) single nucleotide variant Uncertain significance rs202243588 GRCh38 Chromosome 1, 158669553: 158669553
8 SPTA1 NM_003126.3(SPTA1): c.1688G> A (p.Arg563Gln) single nucleotide variant Uncertain significance rs202243588 GRCh37 Chromosome 1, 158639343: 158639343
9 CD46 NM_172359.2(CD46): c.402T> G (p.Ile134Met) single nucleotide variant Uncertain significance rs1553250568 GRCh38 Chromosome 1, 207759651: 207759651
10 CD46 NM_172359.2(CD46): c.402T> G (p.Ile134Met) single nucleotide variant Uncertain significance rs1553250568 GRCh37 Chromosome 1, 207932996: 207932996
11 ABCG8 NM_022437.2(ABCG8): c.-27G> A single nucleotide variant Uncertain significance rs779984848 GRCh37 Chromosome 2, 44066166: 44066166
12 ABCG8 NM_022437.2(ABCG8): c.-27G> A single nucleotide variant Uncertain significance rs779984848 GRCh38 Chromosome 2, 43839027: 43839027
13 SPTB NM_001024858.3(SPTB): c.6737C> T (p.Ala2246Val) single nucleotide variant Uncertain significance rs1555364743 GRCh37 Chromosome 14, 65216738: 65216738
14 SPTB NM_001024858.3(SPTB): c.6737C> T (p.Ala2246Val) single nucleotide variant Uncertain significance rs1555364743 GRCh38 Chromosome 14, 64750020: 64750020
15 SPTB NM_001024858.3(SPTB): c.6706C> A (p.Leu2236Met) single nucleotide variant Uncertain significance rs1555364746 GRCh37 Chromosome 14, 65216769: 65216769
16 SPTB NM_001024858.3(SPTB): c.6706C> A (p.Leu2236Met) single nucleotide variant Uncertain significance rs1555364746 GRCh38 Chromosome 14, 64750051: 64750051
17 SPTB NM_001024858.3(SPTB): c.6271C> A (p.Pro2091Thr) single nucleotide variant Likely benign rs372733273 GRCh37 Chromosome 14, 65233518: 65233518
18 SPTB NM_001024858.3(SPTB): c.6271C> A (p.Pro2091Thr) single nucleotide variant Likely benign rs372733273 GRCh38 Chromosome 14, 64766800: 64766800
19 PIEZO1 NM_001142864.4(PIEZO1): c.1126C> G (p.Pro376Ala) single nucleotide variant Uncertain significance rs1474972037 GRCh38 Chromosome 16, 88737628: 88737628
20 PIEZO1 NM_001142864.4(PIEZO1): c.1126C> G (p.Pro376Ala) single nucleotide variant Uncertain significance rs1474972037 GRCh37 Chromosome 16, 88804036: 88804036
21 C3 NM_000064.3(C3): c.1921G> A (p.Asp641Asn) single nucleotide variant Uncertain significance rs1348311492 GRCh38 Chromosome 19, 6707854: 6707854
22 C3 NM_000064.3(C3): c.1921G> A (p.Asp641Asn) single nucleotide variant Uncertain significance rs1348311492 GRCh37 Chromosome 19, 6707865: 6707865
23 G6PD NM_001042351.2(G6PD): c.448G> A (p.Val150Ile) single nucleotide variant Likely pathogenic rs1557230573 GRCh38 Chromosome X, 154535205: 154535205
24 G6PD NM_001042351.2(G6PD): c.448G> A (p.Val150Ile) single nucleotide variant Likely pathogenic rs1557230573 GRCh37 Chromosome X, 153763420: 153763420
Sources

Expression for Congenital Hemolytic Anemia

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Search GEO for disease gene expression data for Congenital Hemolytic Anemia.
Sources

Pathways for Congenital Hemolytic Anemia

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Pathways related to Congenital Hemolytic Anemia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Vesicle-mediated transport 67
Show member pathways
 13.05 ANK1 HBA2 HBB HP SPTA1 SPTB
2
Carbon metabolism 38
Show member pathways
 11.95 G6PD GPI PKLR TPI1
3
L1CAM interactions 67
Show member pathways
 11.73 ANK1 SPTA1 SPTB
4
Factors involved in megakaryocyte development and platelet production 67
11.65 HBB HBD HBE1 HBG1
5
Binding and Uptake of Ligands by Scavenger Receptors 67
Show member pathways
 11.63 HBA2 HBB HP
6
Differentiation Pathway 1
11.11 EPO IL3 TF
7
Interaction between L1 and Ankyrins 67
10.61 ANK1 SPTA1 SPTB
8
Pentose Phosphate Pathway (Erythrocyte), Pharmacodynamics 62
10.15 G6PD GPI
9
Cori Cycle 1
10 G6PD GPI TPI1
Sources

GO Terms for Congenital Hemolytic Anemia

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Cellular components related to Congenital Hemolytic Anemia according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 blood microparticle GO:0072562 9.63 HBA2 HBB HBD HBE1 HP TF
2 cytoplasmic side of plasma membrane GO:0009898 9.61 ANK1 G6PD SPTA1
3 endocytic vesicle lumen GO:0071682 9.5 HBA2 HBB HP
4 spectrin GO:0008091 9.48 SPTA1 SPTB
5 intrinsic component of the cytoplasmic side of the plasma membrane GO:0031235 9.46 SPTA1 SPTB
6 spectrin-associated cytoskeleton GO:0014731 9.43 ANK1 SPTA1 SPTB
7 hemoglobin complex GO:0005833 9.35 HBA2 HBB HBD HBE1 HBG1
8 haptoglobin-hemoglobin complex GO:0031838 9.1 HBA2 HBB HBD HBE1 HBG1 HP
9 cytosol GO:0005829 10.21 ADA ANK1 G6PD GPI HBA2 HBB
10 extracellular exosome GO:0070062 10.1 G6PD GPI HBA2 HBB HP PKLR
11 extracellular space GO:0005615 10.06 ADA EPO GPI HBA2 HBB HP

Biological processes related to Congenital Hemolytic Anemia according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 ER to Golgi vesicle-mediated transport GO:0006888 9.78 ANK1 SEC23B SPTA1 SPTB
2 blood coagulation GO:0007596 9.76 HBB HBD HBE1 HBG1
3 protein heterooligomerization GO:0051291 9.65 HBA2 HBB HBD HBE1 HBG1
4 cellular oxidant detoxification GO:0098869 9.63 HBA2 HBB HBD HBE1 HBG1 HP
5 response to hydrogen peroxide GO:0042542 9.62 ADA HBA2 HBB HP
6 positive regulation of cell death GO:0010942 9.61 HBA2 HBB HP
7 glycolytic process GO:0006096 9.58 GPI PKLR TPI1
8 canonical glycolysis GO:0061621 9.54 GPI PKLR TPI1
9 actin filament capping GO:0051693 9.52 SPTA1 SPTB
10 erythrocyte maturation GO:0043249 9.51 EPO G6PD
11 glucose 6-phosphate metabolic process GO:0051156 9.49 G6PD GPI
12 hydrogen peroxide catabolic process GO:0042744 9.35 HBA2 HBB HBD HBE1 HBG1
13 oxygen transport GO:0015671 9.02 HBA2 HBB HBD HBE1 HBG1

Molecular functions related to Congenital Hemolytic Anemia according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 9.8 HBA2 HBB HBD HBE1 HBG1
2 oxygen binding GO:0019825 9.72 HBA2 HBB HBD HBE1 HBG1
3 structural constituent of cytoskeleton GO:0005200 9.65 ANK1 SPTA1 SPTB
4 peroxidase activity GO:0004601 9.65 HBA2 HBB HBD HBE1 HBG1
5 oxygen carrier activity GO:0005344 9.55 HBA2 HBB HBD HBE1 HBG1
6 hemoglobin alpha binding GO:0031721 9.54 HBB HBD HBE1
7 hemoglobin binding GO:0030492 9.43 HBB HP
8 organic acid binding GO:0043177 9.35 HBA2 HBB HBD HBE1 HBG1
9 haptoglobin binding GO:0031720 9.02 HBA2 HBB HBD HBE1 HBG1
10 protein binding GO:0005515 10.4 ADA ANK1 ATP11C EPO G6PD HBA2
11 metal ion binding GO:0046872 10.2 ADA ATP11C HBA2 HBB HBD HBE1
Sources

Sources for Congenital Hemolytic Anemia

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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