MCID: CNG027
MIFTS: 46

Congenital Hemolytic Anemia

Categories: Rare diseases, Immune diseases, Blood diseases, Genetic diseases, Metabolic diseases

Aliases & Classifications for Congenital Hemolytic Anemia

MalaCards integrated aliases for Congenital Hemolytic Anemia:

Name: Congenital Hemolytic Anemia 12 76 53 6 15
Anemia, Hemolytic, Congenital 44 73
Anemia Hemolytic Congenital 53 55
Hereditary Hemolytic Anemia 12

Classifications:



External Ids:

Disease Ontology 12 DOID:589
ICD10 33 D58.9 D58.8
ICD9CM 35 282 282.9
MeSH 44 D000745
NCIt 50 C34379
UMLS 73 C0002881

Summaries for Congenital Hemolytic Anemia

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 Carbon metabolism and Binding and Uptake of Ligands by Scavenger Receptors. The drugs alemtuzumab and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone and spleen, and related phenotypes are hematopoietic system and homeostasis/metabolism

Wikipedia : 76 Congenital hemolytic anemia (or hereditary hemolytic anemia) refers to hemolytic anemia which is... more...

Related Diseases for Congenital Hemolytic Anemia

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 70)
# Related Disease Score Top Affiliating Genes
1 congenital nonspherocytic hemolytic anemia 32.5 G6PD GPI PKLR
2 pyruvate kinase deficiency of red cells 31.2 G6PD PKLR
3 pyropoikilocytosis, hereditary 30.6 SPTA1 SPTB
4 hereditary spherocytosis 29.1 G6PD HBB HBE1 HBG1 HCLS1 KLF1
5 deficiency anemia 28.9 EPO G6PD HBA2 HBB HP IL3
6 hemolytic anemia 28.8 EPO G6PD GPI HBA2 HBB HP
7 thalassemia 28.1 EPO HBA2 HBB HBD HBE1 HBG1
8 hemoglobinopathy 26.5 EPO HBA2 HBB HBD HBE1 HBG1
9 triosephosphate isomerase deficiency 11.4
10 congenital dyserythropoietic anemia 11.3
11 glycogen storage disease xii 11.0
12 pseudohyperkalemia, familial, 2, due to red cell leak 10.9
13 hemoglobin zurich 10.9 HBA2 HBB
14 methemoglobinemia, beta-globin type 10.9 HBA2 HBB
15 glutathione peroxidase deficiency 10.8 HBA2 HBB
16 heinz body anemias 10.8 HBA2 HBB
17 glucosephosphate isomerase deficiency 10.8 G6PD GPI
18 miliary tuberculosis 10.7 ADA EPO
19 folic acid deficiency anemia 10.7 EPO TF
20 retinitis pigmentosa and erythrocytic microcytosis 10.7 EPO IL3
21 hemoglobinemia 10.7 HBB HP
22 hypochromic microcytic anemia 10.7 HBA2 HBB TF
23 microcytic anemia 10.6 EPO HBA2 TF
24 blackwater fever 10.5 G6PD HP
25 glucosephosphate dehydrogenase deficiency 10.5 G6PD HBB HP
26 melancholia 10.5 HP TF
27 primary polycythemia 10.5 EPO IL3
28 neonatal jaundice 10.5 G6PD PKLR SPTA1
29 anemia, nonspherocytic hemolytic, due to g6pd deficiency 10.5 G6PD HP
30 plasmodium falciparum malaria 10.5 G6PD HBB HP
31 hemoglobin lepore-beta-thalassemia syndrome 10.4 HBB HBD
32 sickle cell anemia 10.4 EPO HBA2 HBB HBG1
33 hemochromatosis, type 1 10.4 HBB HP TF
34 hemoglobin d disease 10.4 HBB HBD
35 immune system disease 10.4 EPO HBB IL3 TF
36 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome 10.3 HBB HBG1 KLF1
37 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome 10.3 HBB HBG1 KLF1
38 malignant secondary hypertension 10.3 HBB HBD
39 osgood-schlatter's disease 10.3 HBB HBD
40 neonatal anemia 10.3 EPO HBA2 KLF1
41 vaginal discharge 10.2 HP SPTB
42 fetal hemoglobin quantitative trait locus 1 10.2 HBB HBD HBG1
43 splenic disease 10.1 EPO HBB
44 acute erythroid leukemia 10.1 EPO HBB HBG1 KLF1
45 kluver-bucy syndrome 10.0 HBB HBD
46 hemoglobin e disease 10.0 HBB HBD HBE1
47 hemoglobin c disease 10.0 HBB HBD HBE1
48 aging 9.9
49 hemosiderosis 9.9
50 spherocytosis, type 3 9.9 KLF1 SPTA1

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



Diseases related to Congenital Hemolytic Anemia

Symptoms & Phenotypes for Congenital Hemolytic Anemia

MGI Mouse Phenotypes related to Congenital Hemolytic Anemia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.17 TPI1 ADA ATP11C EPO G6PD GPI
2 homeostasis/metabolism MP:0005376 10.07 ADA ATP11C EPO G6PD GPI HP
3 immune system MP:0005387 9.93 ADA ATP11C EPO GPI HCLS1 HP
4 liver/biliary system MP:0005370 9.5 ADA EPO GPI HP KLF1 SPTA1
5 mortality/aging MP:0010768 9.44 G6PD GPI HBA2 HP KLF1 PKLR

Drugs & Therapeutics for Congenital Hemolytic Anemia

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

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
alemtuzumab Approved, Investigational Phase 2 216503-57-0
2
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
3
Everolimus Approved Phase 2 159351-69-6 6442177
4
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
5
Memantine Approved, Investigational Phase 2 19982-08-2 4054
6
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
7 Anti-Bacterial Agents Phase 2
8 Antibiotics, Antitubercular Phase 2
9 Immunosuppressive Agents Phase 2
10 Anti-Infective Agents Phase 2
11 Antifungal Agents Phase 2
12 Neurotransmitter Agents Phase 2
13 Dopamine Agents Phase 2
14 Excitatory Amino Acid Antagonists Phase 2
15 Excitatory Amino Acids Phase 2
16 Antiparkinson Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical Trial to Study the Safety and Tolerability of Memantin Mepha® in Sickle Cell Disease Patients Completed NCT02615847 Phase 2 Memantinhydrochlorid
2 Improving the Results of Bone Marrow Transplantation for Patients With Severe Congenital Anemias Recruiting NCT00061568 Phase 2 Alemtuzumab (Campath );Sirolimus (Rapamune )
3 A Phase - IIa - IIb, Trial to Study the Safety, Tolerability and Efficacy of Memantine as a Long-term Treatment of SCD Not yet recruiting NCT03247218 Phase 2 Memantine Hydrochloride
4 Evaluation of the AMICUS RBCx System in Sickle Cell Patients Completed NCT02372877 Not Applicable
5 The Dallas Hereditary Spherocytosis Cohort Study Terminated NCT01141621

Search NIH Clinical Center for Congenital Hemolytic Anemia

Cochrane evidence based reviews: anemia, hemolytic, congenital

Genetic Tests for Congenital Hemolytic Anemia

Anatomical Context for Congenital Hemolytic Anemia

MalaCards organs/tissues related to Congenital Hemolytic Anemia:

41
Bone Marrow, Bone, Spleen

Publications for Congenital Hemolytic Anemia

Articles related to Congenital Hemolytic Anemia:

(show top 50) (show all 90)
# Title Authors Year
1
Whole-exome analysis to detect congenital hemolytic anemia mimicking congenital dyserythropoietic anemia. ( 29936674 )
2018
2
Congenital Hemolytic Anemia. ( 28189176 )
2017
3
Coinheritance of Hb Bristol-Alesha [I^67(E11)Vala89Met; HBB: c.202G>A] and the I+212 Patchwork Allele in a Brazilian Child with Severe Congenital Hemolytic Anemia. ( 28670945 )
2017
4
Hematologic outcomes after total splenectomy and partial splenectomy for congenital hemolytic anemia. ( 26613837 )
2016
5
Genetic diagnosis for congenital hemolytic anemia. ( 27725587 )
2016
6
Acquired and Congenital Hemolytic Anemia. ( 27252179 )
2016
7
ATP11C is a major flippase in human erythrocytes and its defect causes congenital hemolytic anemia. ( 26944472 )
2016
8
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
9
Clinical Outcomes of Splenectomy in Children: Report of the Splenectomy in Congenital Hemolytic Anemia (SICHA) Registry. ( 25382665 )
2014
10
Post-transfusion hypertension and seizure in congenital hemolytic anemia: a case report and literature review. ( 24473404 )
2014
11
Congenital dyserythropoietic anemia type 1 with a novel mutation in the CDAN1 gene previously diagnosed as congenital hemolytic anemia. ( 23605369 )
2013
12
Hemoglobin J--as a cause of congenital hemolytic anemia. ( 21390522 )
2011
13
Incidence of congenital hemolytic anemias in young cholelithiasis patients. ( 21086564 )
2010
14
[Congenital hemolytic anemia due to glucose-6-phosphate dehydrogenase deficiency]. ( 20099666 )
2009
15
Transient pure red blood cell aplasia as clinical presentation of congenital hemolytic anemia: a case report. ( 19829866 )
2009
16
Partial splenectomy for children with congenital hemolytic anemia and massive splenomegaly. ( 18358283 )
2008
17
Vasoconstrictor-induced hypertension following multiple blood transfusions in children with congenital hemolytic anemia. ( 19377226 )
2008
18
Hereditary pyropoikilocytosis: a rare but potentially severe form of congenital hemolytic anemia. ( 17279012 )
2007
19
[Congenital hemolytic anemia]. ( 15773339 )
2005
20
Hemoglobinopathies and other congenital hemolytic anemia. ( 15567909 )
2004
21
Congenital hemolytic anemia in Bangladesh: types and clinical manifestations. ( 12084953 )
2002
22
Post-transcriptional effects of interleukin-3, interferon-gamma, erythropoietin and butyrate on in vitro hemoglobin chain synthesis in congenital hemolytic anemia. ( 11522534 )
2001
23
Triosephosphate isomerase deficiency in a child with congenital hemolytic anemia and severe hypotonia. ( 9842650 )
1998
24
Unstable hemoglobin as a cause of congenital hemolytic anemia. ( 8979570 )
1996
25
Clinical features and splenic pathologic changes in patients with autoimmune hemolytic anemia and congenital hemolytic anemia. ( 8331977 )
1993
26
Erythrocyte fructose 2,6-bisphosphate content in congenital hemolytic anemias. ( 1667653 )
1991
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
Oxidative denaturation in congenital hemolytic anemias: the unstable hemoglobins. ( 2405495 )
1990
31
[Iron overload in congenital hemolytic anemia caused by pyruvate kinase deficiency. A major late complication]. ( 2141411 )
1990
32
Erythrocyte pyruvate kinase deficiency. A case of severe congenital hemolytic anemia. ( 2761512 )
1989
33
Clinicopathologic features of young and old sphha/sphha mice. Mutants with congenital hemolytic anemia. ( 3414779 )
1988
34
Adenosine deaminase (ADA) overproduction associated with congenital hemolytic anemia: case report and molecular analysis. ( 3164080 )
1988
35
A new glucose-6-phosphate dehydrogenase variant (G6PD Tsukui) associated with congenital hemolytic anemia. ( 3360447 )
1988
36
Congenital hemolytic anemia with Heinz bodies due to unstable hemoglobin. First report in Mexico. ( 3842916 )
1985
37
Altered spectrin association and membrane fragility without abnormal spectrin heat sensitivity in a case of congenital hemolytic anemia. ( 4025321 )
1985
38
Two cases of phosphofructokinase deficiency associated with congenital hemolytic anemia found in Japan. ( 6220601 )
1983
39
G6PD Sendagi: a new glucose-6-phosphate dehydrogenase variant associated with congenital hemolytic anemia. ( 6654337 )
1983
40
The Japanese family of congenital hemolytic anemia with high red cell membrane phosphatidyl choline and increased sodium transport. ( 7136463 )
1982
41
Pyruvate kinase "GAPttingen 1,2": congenital hemolytic anemia, evidence of double heterozygosity, and lack of enzyme cooperativity. ( 7106777 )
1982
42
A new glucose-6-phosphate dehydrogenase variant (G6PD Nagano) associated with congenital hemolytic anemia. ( 7166314 )
1982
43
Long-term survival and reversal of iron overload after marrow transplantation in dogs with congenital hemolytic anemia. ( 6778539 )
1981
44
Successful long-term phenobarbital therapy of hyperbilirubinemia in congenital hemolytic anemia due to glucose phosphate isomerase deficiency. ( 7449787 )
1980
45
Abnormal red cell membrane phosphatase activity in an unidentified congenital hemolytic anemia. ( 224968 )
1979
46
Congenital hemolytic anemia due to hexokinase deficiency. ( 655151 )
1978
47
Red cell calcium leak in congenital hemolytic anemia with extreme microcytosis. ( 1244919 )
1976
48
Congenital hemolytic anemia associated with dehydrated erythrocytes and increased potassium loss. ( 4851153 )
1974
49
Letter: Congenital hemolytic anemia with potassium loss. ( 4427630 )
1974
50
Animal model of human disease. Congenital hemolytic anemia. ( 4715956 )
1973

Variations for Congenital Hemolytic Anemia

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 GRCh37 Chromosome 1, 158587322: 158587322
4 SPTA1 NM_003126.3(SPTA1): c.6600+5G> T single nucleotide variant Likely pathogenic GRCh38 Chromosome 1, 158617532: 158617532
5 SPTA1 NM_003126.3(SPTA1): c.3291G> A (p.Trp1097Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 158652551: 158652551
6 SPTA1 NM_003126.3(SPTA1): c.3291G> A (p.Trp1097Ter) single nucleotide variant Pathogenic 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 GRCh37 Chromosome 1, 207932996: 207932996
10 CD46 NM_172359.2(CD46): c.402T> G (p.Ile134Met) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 207759651: 207759651
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 GRCh37 Chromosome 14, 65216738: 65216738
14 SPTB NM_001024858.3(SPTB): c.6737C> T (p.Ala2246Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 14, 64750020: 64750020
15 SPTB NM_001024858.3(SPTB): c.6706C> A (p.Leu2236Met) single nucleotide variant Uncertain significance GRCh37 Chromosome 14, 65216769: 65216769
16 SPTB NM_001024858.3(SPTB): c.6706C> A (p.Leu2236Met) single nucleotide variant Uncertain significance GRCh38 Chromosome 14, 64750051: 64750051
17 SPTB NM_001024858.3(SPTB): c.6271C> A (p.Pro2091Thr) single nucleotide variant Likely benign rs372733273 GRCh38 Chromosome 14, 64766800: 64766800
18 SPTB NM_001024858.3(SPTB): c.6271C> A (p.Pro2091Thr) single nucleotide variant Likely benign rs372733273 GRCh37 Chromosome 14, 65233518: 65233518
19 PIEZO1 NM_001142864.4(PIEZO1): c.1126C> G (p.Pro376Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 88737628: 88737628
20 PIEZO1 NM_001142864.4(PIEZO1): c.1126C> G (p.Pro376Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 88804036: 88804036
21 C3 NM_000064.3(C3): c.1921G> A (p.Asp641Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 6707854: 6707854
22 C3 NM_000064.3(C3): c.1921G> A (p.Asp641Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 6707865: 6707865
23 G6PD NM_001042351.2(G6PD): c.448G> A (p.Val150Ile) single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 154535205: 154535205
24 G6PD NM_001042351.2(G6PD): c.448G> A (p.Val150Ile) single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 153763420: 153763420

Expression for Congenital Hemolytic Anemia

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

Pathways for Congenital Hemolytic Anemia

GO Terms for Congenital Hemolytic Anemia

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

# Name GO ID Score Top Affiliating Genes
1 blood microparticle GO:0072562 9.63 HBA2 HBB HBD HBE1 HP TF
2 intrinsic component of the cytoplasmic side of the plasma membrane GO:0031235 9.46 SPTA1 SPTB
3 spectrin-associated cytoskeleton GO:0014731 9.43 SPTA1 SPTB
4 endocytic vesicle lumen GO:0071682 9.43 HBA2 HBB HP
5 spectrin GO:0008091 9.4 SPTA1 SPTB
6 haptoglobin-hemoglobin complex GO:0031838 9.13 HBA2 HBB HP
7 hemoglobin complex GO:0005833 9.02 HBA2 HBB HBD HBE1 HBG1
8 cytosol GO:0005829 10.17 ADA G6PD GPI HBA2 HBB HBD
9 extracellular space GO:0005615 10.02 ADA EPO GPI HBA2 HBB HP

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.71 HBB HBD HBE1 HBG1
2 cellular oxidant detoxification GO:0098869 9.67 HBA2 HBB HP
3 protein heterooligomerization GO:0051291 9.63 HBA2 HBB HBE1
4 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.61 EPO HCLS1 IL3
5 hydrogen peroxide catabolic process GO:0042744 9.55 HBA2 HBB
6 actin filament capping GO:0051693 9.54 SPTA1 SPTB
7 positive regulation of cell death GO:0010942 9.54 HBA2 HBB HP
8 pentose-phosphate shunt GO:0006098 9.52 G6PD TPI1
9 erythrocyte maturation GO:0043249 9.51 EPO G6PD
10 erythrocyte differentiation GO:0030218 9.5 EPO HCLS1 KLF1
11 glucose 6-phosphate metabolic process GO:0051156 9.48 G6PD GPI
12 glycolytic process GO:0006096 9.43 GPI PKLR TPI1
13 canonical glycolysis GO:0061621 9.33 GPI PKLR TPI1
14 response to hydrogen peroxide GO:0042542 9.26 ADA HBA2 HBB HP
15 oxygen transport GO:0015671 9.02 HBA2 HBB HBD HBE1 HBG1

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

# Name GO ID Score Top Affiliating Genes
1 iron ion binding GO:0005506 9.65 HBA2 HBB HBD HBE1 HBG1
2 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.61 IL3 SPTA1 SPTB
3 heme binding GO:0020037 9.55 HBA2 HBB HBD HBE1 HBG1
4 hemoglobin binding GO:0030492 9.4 HBB HP
5 oxygen binding GO:0019825 9.35 HBA2 HBB HBD HBE1 HBG1
6 haptoglobin binding GO:0031720 9.32 HBA2 HBB
7 oxygen carrier activity GO:0005344 9.02 HBA2 HBB HBD HBE1 HBG1
8 metal ion binding GO:0046872 10.15 ADA ATP11C HBA2 HBB HBD HBE1

Sources for Congenital Hemolytic Anemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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