MCID: CNG027
MIFTS: 40

Congenital Hemolytic Anemia

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

Aliases & Classifications for Congenital Hemolytic Anemia

MalaCards integrated aliases for Congenital Hemolytic Anemia:

Name: Congenital Hemolytic Anemia 52 29 6
Anemia Hemolytic Congenital 52 54
Anemia, Hemolytic, Congenital 71

Classifications:



External Ids:

UMLS 71 C0002881

Summaries for Congenital Hemolytic Anemia

MalaCards based summary : Congenital Hemolytic Anemia, also known as anemia hemolytic congenital, is related to hereditary spherocytosis and thalassemia. An important gene associated with Congenital Hemolytic Anemia is SPTA1 (Spectrin Alpha, Erythrocytic 1), and among its related pathways/superpathways are L1CAM interactions and Interaction between L1 and Ankyrins. The drugs Methotrexate and Fludarabine have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone and spleen, and related phenotypes are growth/size/body region and hematopoietic system

Wikipedia : 74 Congenital hemolytic anemia refers to hemolytic anemia which is primarily due to congenital... more...

Related Diseases for Congenital Hemolytic Anemia

Diseases in the Hemolytic Anemia family:

Anemia, Autoimmune Hemolytic Congenital Hemolytic Anemia
Rare Acquired Hemolytic Anemia Hemolytic Anemia Due to Erythrocyte Adenosine Deaminase Overproduction
Hemolytic Anemia Due to an Erythrocyte Nucleotide Metabolism Disorder Hemolytic Anemia Due to a Disorder of Glycolytic Enzymes
Hemolytic Anemia Due to Hexose Monophosphate Shunt and Glutathione Metabolism Anomalies Rare Hemolytic Anemia

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

(show top 50) (show all 78)
# Related Disease Score Top Affiliating Genes
1 hereditary spherocytosis 31.6 SPTB SPTA1 G6PD
2 thalassemia 30.6 TF G6PD
3 deficiency anemia 30.5 TF SPTB G6PD
4 pyropoikilocytosis, hereditary 30.0 SPTB SPTA1
5 hemoglobinopathy 29.9 TF G6PD
6 neonatal jaundice 29.6 SPTA1 G6PD
7 beta-thalassemia 29.5 TF SPTB G6PD
8 hereditary elliptocytosis 29.4 SPTB SPTA1 G6PD
9 iron deficiency anemia 29.3 TF G6PD
10 hemolytic anemia 29.2 TPI1 TF SPTB SPTA1 G6PD
11 triosephosphate isomerase deficiency 11.7
12 congenital dyserythropoietic anemia 11.6
13 pseudohyperkalemia, familial, 2, due to red cell leak 11.3
14 pyruvate kinase deficiency of red cells 10.4
15 cholelithiasis 10.3
16 gallbladder disease 1 10.2
17 hemosiderosis 10.2
18 sickle cell disease 10.2
19 splenomegaly 10.2
20 bilirubin metabolic disorder 10.1
21 glucosephosphate dehydrogenase deficiency 10.1
22 overhydrated hereditary stomatocytosis 10.0
23 sickle cell anemia 10.0
24 alpha-thalassemia 10.0
25 autosomal recessive disease 10.0
26 splenic sequestration 10.0
27 membranoproliferative glomerulonephritis 10.0
28 glomerulonephritis 10.0
29 hypersplenism 10.0
30 epb42-related hereditary spherocytosis 10.0
31 glucosephosphate isomerase deficiency 10.0
32 glucose phosphate isomerase deficiency 10.0
33 rare hereditary hemochromatosis 10.0
34 elliptocytosis 2 9.9
35 endosteal hyperostosis, autosomal dominant 9.9
36 red cell phospholipid defect with hemolysis 9.9
37 cryohydrocytosis 9.9
38 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema 9.9
39 anemia, autoimmune hemolytic 9.9
40 glycogen storage disease vii 9.9
41 hemochromatosis, type 1 9.9
42 hemolytic anemia with thermal sensitivity of red cells 9.9
43 hemolytic uremic syndrome, atypical 1 9.9
44 hemolytic anemia, nonspherocytic, due to hexokinase deficiency 9.9
45 hydrops fetalis, nonimmune 9.9
46 glutathione synthetase deficiency 9.9
47 thrombotic thrombocytopenic purpura, congenital 9.9
48 hemolytic anemia, congenital, x-linked 9.9
49 ataxia and polyneuropathy, adult-onset 9.9
50 ascaris lumbricoides infection 9.9

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.65 G6PD SPTA1 SPTB TF TPI1
2 hematopoietic system MP:0005397 9.55 G6PD SPTA1 SPTB TF TPI1
3 homeostasis/metabolism MP:0005376 9.35 G6PD SPTA1 SPTB TF TPI1
4 mortality/aging MP:0010768 9.02 G6PD SPTA1 SPTB TF TPI1

Drugs & Therapeutics for Congenital Hemolytic Anemia

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

(show all 37)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methotrexate Approved Phase 2 59-05-2, 1959-05-2 126941
2
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
3
Busulfan Approved, Investigational Phase 2 55-98-1 2478
4
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492 6473866
5
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030 46835353
6
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
7
alemtuzumab Approved, Investigational Phase 1, Phase 2 216503-57-0
8
Everolimus Approved Phase 1, Phase 2 159351-69-6 6442177 70789204
9
Ergocalciferol Approved, Nutraceutical Phase 2 50-14-6 5280793
10
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2 1406-16-2
11
Vitamin D3 Approved, Nutraceutical Phase 2 67-97-0 6221 5280795
12
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
13 Thymoglobulin Phase 2
14 Antilymphocyte Serum Phase 2
15 Cyclosporins Phase 2
16 Calcineurin Inhibitors Phase 2
17 Anti-Infective Agents Phase 1, Phase 2
18 Immunosuppressive Agents Phase 1, Phase 2
19 Immunologic Factors Phase 1, Phase 2
20 Antibiotics, Antitubercular Phase 1, Phase 2
21 Anti-Bacterial Agents Phase 1, Phase 2
22 Antifungal Agents Phase 1, Phase 2
23 Antineoplastic Agents, Immunological Phase 1, Phase 2
24 Trace Elements Phase 2
25 Vitamins Phase 2
26 Micronutrients Phase 2
27 Nutrients Phase 2
28 Ergocalciferols Phase 2
29 Vitamin D2 Phase 2
30 Calciferol Phase 2
31 Calcium, Dietary Phase 2
32 Trientine Phase 2
33 Hormones Phase 2
34
Carbon monoxide Approved, Investigational Phase 1 630-08-0 281
35 Antimetabolites Phase 1
36 Neurotransmitter Agents Phase 1
37 pyruvate

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 An Open-Label, Multicenter, Extension Study of AG-348 in Adult Subjects With Pyruvate Kinase Deficiency Previously Enrolled in AG-348 Studies Recruiting NCT03853798 Phase 3 AG-348
2 An Open-Label Study To Evaluate the Efficacy and Safety of AG-348 in Regularly Transfused Adult Subjects With Pyruvate Kinase (PK) Deficiency Recruiting NCT03559699 Phase 3 AG-348
3 A Phase 3, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of AG-348 in Not Regularly Transfused Adult Subjects With Pyruvate Kinase Deficiency Recruiting NCT03548220 Phase 3 AG-348;Placebo
4 A Phase II Study of Hematopoietic Stem Cell Therapy for Young Adults With Severe Sickle Cell Disease Completed NCT01565616 Phase 2 Conditioning Regimen with Bone Marrow Transplant
5 Nonmyeloablative Allogeneic Peripheral Blood Mobilized Hematopoietic Precursor Cell Transplantation For Severe Congenital Anemias Including Sickle Cell Disease (SCD) and Beta-Thalassemia Recruiting NCT00061568 Phase 1, Phase 2 Alemtuzumab;Sirolimus
6 A Phase 2, Open Label, Randomized, Dose Ranging, Safety, Efficacy, Pharmacokinetic and Pharmacodynamic Study of AG-348 in Adult Patients With Pyruvate Kinase Deficiency Active, not recruiting NCT02476916 Phase 2 AG-348
7 Daily Vitamin D for Sickle-cell Respiratory Complications Not yet recruiting NCT04170348 Phase 2 Daily oral vitamin D3, 3,333 IU;Bolus oral vitamin D3, 100,000 IU;Placebo oral tablet
8 Gene Therapy for Pyruvate Kinase Deficiency (PKD): A Phase I Clinical Trial to Evaluate the Safety of the Infusion of Autologous CD34+ Cells Transduced With a Lentiviral Vector Carrying the Codon Optimized Red Cell Pyruvate Kinase (coRPK) Gene in Adult and Pediatric Subjects With PKD Recruiting NCT04105166 Phase 1
9 A Phase 1 Open Labeled Single Ascending Dose Followed by Multiple Ascending Dose Safety and Pharmacokinetic Study of HBI-002 Carbon Monoxide Oral Liquid Drug Product in Healthy Adult Volunteers. Not yet recruiting NCT03926819 Phase 1 HBI-002
10 Evaluation of the AMICUS Red Blood Cell Exchange (RBCx) System in Sickle Cell Patients Completed NCT02372877
11 Pyruvate Kinase Deficiency Global Longitudinal Registry Recruiting NCT03481738
12 Pyruvate Kinase Deficiency (PKD) Natural History Study Active, not recruiting NCT02053480
13 Pyruvate Kinase Deficiency Epidemiological Study. An International, Multicentre, Epidemiological Observational Study Not yet recruiting NCT03866590
14 The Dallas Hereditary Spherocytosis Cohort Study Terminated NCT01141621

Search NIH Clinical Center for Congenital Hemolytic Anemia

Genetic Tests for Congenital Hemolytic Anemia

Genetic tests related to Congenital Hemolytic Anemia:

# Genetic test Affiliating Genes
1 Congenital Hemolytic Anemia 29

Anatomical Context for Congenital Hemolytic Anemia

MalaCards organs/tissues related to Congenital Hemolytic Anemia:

40
Bone Marrow, Bone, Spleen, Liver, Heart, Kidney, Lung

Publications for Congenital Hemolytic Anemia

Articles related to Congenital Hemolytic Anemia:

(show top 50) (show all 288)
# Title Authors PMID Year
1
[Congenital hemolytic anemia due to glucose-6-phosphate dehydrogenase deficiency]. 54 61
20099666 2009
2
Erythropoietin and iron-restricted erythropoiesis. 54 61
17379103 2007
3
Combined glucose-6-phosphate dehydrogenase and glucosephosphate isomerase deficiency can alter clinical outcome. 54 61
12737943 2003
4
Triosephosphate isomerase deficiency in a child with congenital hemolytic anemia and severe hypotonia. 54 61
9842650 1998
5
Molecular characterization of PK-LR gene in pyruvate kinase-deficient Italian patients. 61 54
9160692 1997
6
Hereditary xerocytosis - spectrum and clinical manifestations of variants in the PIEZO1 gene, including co-occurrence with a novel β-globin mutation. 61
31670187 2020
7
Capillary electrophoresis and mutational images of hemoglobin sendagi [Β42 (CD1) PHE → VAL; HBB: C.127T→G]. 61
31299317 2019
8
Safety and Efficacy of Mitapivat in Pyruvate Kinase Deficiency. 61
31483964 2019
9
Congenital Hemolytic Anemia Because of Glucose Phosphate Isomerase Deficiency: Identification of 2 Novel Missense Mutations in the GPI Gene. 61
31415279 2019
10
ATP11C T418N, a gene mutation causing congenital hemolytic anemia, reduces flippase activity due to improper membrane trafficking. 61
31253392 2019
11
Congenital Nonspherocytic Hemolytic Anemia Caused by Krüppel-Like Factor 1 Gene Variants: Another Case Report. 61
31645145 2019
12
Identification and functional analyses of disease-associated P4-ATPase phospholipid flippase variants in red blood cells. 61
30850395 2019
13
Aberrant splicing contributes to severe α-spectrin-linked congenital hemolytic anemia. 61
31038472 2019
14
Severe congenital hemolytic anemia caused by a novel compound heterozygous PKLR gene mutation in a Chinese boy. 61
30628965 2019
15
TGA/Chemometric Test Is Able to Detect the Presence of a Rare Hemoglobin Variant Hb Bibba. 61
31632985 2019
16
Thalassemia major phenotype caused by HB Zürich-Albisrieden [α2 59(E8) Gly > Arg (HBA2:C.178G > C)] in a Brazilian child. 61
30151892 2018
17
Whole-exome sequencing for the genetic diagnosis of congenital red blood cell membrane disorders in Taiwan. 61
30317022 2018
18
A Case With Pyruvate Kinase Deficiency Remarkably Sensitive to Heat. 61
29309376 2018
19
Whole-exome analysis to detect congenital hemolytic anemia mimicking congenital dyserythropoietic anemia. 61
29936674 2018
20
Lung masses in a thalassemia patient: A diagnostic dilemma. 61
31435353 2018
21
Utility of mean sphered cell volume and mean reticulocyte volume for the diagnosis of hereditary spherocytosis. 61
29338606 2018
22
Exome sequencing confirms molecular diagnoses in 38 Chinese families with hereditary spherocytosis. 61
29572776 2018
23
Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study. 61
29549173 2018
24
[Using target next-generation sequencing assay in diagnosing of 46 patients with suspected congenital anemias]. 61
29779353 2018
25
A Case Report of Congenital Non-spherocytic Hemolytic Anemia in a Patient from India. 61
29904619 2018
26
An Infant With Unusually High Unconjugated Hyperbilirubinemia Due to Coexistence of Hereditary Spherocytosis and Gilbert Syndrome. 61
29200157 2018
27
Hereditary spherocytosis: Retrospective evaluation of 65 children. 61
30511538 2018
28
An ANK1 IVS3-2A>C mutation causes exon 4 skipping in two patients from a Chinese family with hereditary spherocytosis. 61
29348906 2017
29
Novel mechanisms of PIEZO1 dysfunction in hereditary xerocytosis. 61
28716860 2017
30
Oral tetrahydrouridine and decitabine for non-cytotoxic epigenetic gene regulation in sickle cell disease: A randomized phase 1 study. 61
28880867 2017
31
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. 61
28670945 2017
32
Next-generation sequencing unravels homozygous mutation in glucose-6-phosphate isomerase, GPIc.1040G>A (p.Arg347His) causing hemolysis in an Indian infant. 61
28223188 2017
33
Congenital Hemolytic Anemia. 61
28189176 2017
34
Hereditary Spherocytosis - Diagnosis, Surgical Treatment and Outcomes. A Literature Review. 61
28463670 2017
35
Diagnostic Dilemma of Hb Perth [β32(B14)Leu→Pro; HBB: c.98T > C] in Mainland China. 61
27117570 2016
36
Acquired and Congenital Hemolytic Anemia. 61
27252179 2016
37
ATP11C is a major flippase in human erythrocytes and its defect causes congenital hemolytic anemia. 61
26944472 2016
38
Positive predictive value of diagnosis coding for hemolytic anemias in the Danish National Patient Register. 61
27445504 2016
39
Genetic diagnosis for congenital hemolytic anemia. 61
27725587 2016
40
Quantification of Dihydroxyacetone Phosphate (DHAP) in Human Red Blood Cells by HPLC-TripleTOF 5600™ Mass Spectrometer. 61
26602120 2016
41
Hematologic outcomes after total splenectomy and partial splenectomy for congenital hemolytic anemia. 61
26613837 2016
42
Pyruvate kinase deficiency and severe congenital hemolytic anemia in a double heterozygous patient with paternal transmission of an early germ-line de novo mutation. 61
26315463 2015
43
Detection of red blood cell antibodies in mitogen-stimulated cultures from patients with hereditary spherocytosis. 61
26259504 2015
44
Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis). 61
26178367 2015
45
Hereditary Spherocytosis with Splenomegaly and Cholelithiasis in a Young Male of Western Region of Nepal - A Case Report. 61
27423290 2015
46
[Glucose-6-phosphate dehydrogenase deficiency in Japan]. 61
26251139 2015
47
Clinical outcomes of splenectomy in children: report of the splenectomy in congenital hemolytic anemia registry. 61
25382665 2015
48
Occurrence of Wilms' tumor in a child with hereditary spherocytosis. 61
26690609 2015
49
Bacterial Infections Following Splenectomy for Malignant and Nonmalignant Hematologic Diseases. 61
26543526 2015
50
Post-transfusion hypertension and seizure in congenital hemolytic anemia: a case report and literature review. 61
24473404 2014

Variations for Congenital Hemolytic Anemia

ClinVar genetic disease variations for Congenital Hemolytic Anemia:

6 (show all 12) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SPTA1 NM_003126.4(SPTA1):c.3291G>A (p.Trp1097Ter)SNV Pathogenic 544823 rs1553231217 1:158622341-158622341 1:158652551-158652551
2 SPTA1 NM_003126.4(SPTA1):c.6600+5G>TSNV Likely pathogenic 544819 rs1462060431 1:158587322-158587322 1:158617532-158617532
3 G6PD NM_001360016.2(G6PD):c.448G>A (p.Val150Ile)SNV Likely pathogenic 544826 rs1557230573 X:153763420-153763420 X:154535205-154535205
4 SPTA1 NM_003126.4(SPTA1):c.6672A>C (p.Glu2224Asp)SNV Conflicting interpretations of pathogenicity 258956 rs142775522 1:158585122-158585122 1:158615332-158615332
5 PIEZO1 NM_001142864.4(PIEZO1):c.1126C>G (p.Pro376Ala)SNV Uncertain significance 544825 rs1474972037 16:88804036-88804036 16:88737628-88737628
6 C3 NM_000064.4(C3):c.1921G>A (p.Asp641Asn)SNV Uncertain significance 544828 rs1348311492 19:6707865-6707865 19:6707854-6707854
7 SPTA1 NM_003126.4(SPTA1):c.1688G>A (p.Arg563Gln)SNV Uncertain significance 544820 rs202243588 1:158639343-158639343 1:158669553-158669553
8 CD46 NM_002389.4(CD46):c.402T>G (p.Ile134Met)SNV Uncertain significance 544824 rs1553250568 1:207932996-207932996 1:207759651-207759651
9 ABCG8 NM_022437.3(ABCG8):c.-27G>ASNV Uncertain significance 544827 rs779984848 2:44066166-44066166 2:43839027-43839027
10 SPTB NM_001308147.2(PLEKHG3):c.*6317G>ASNV Uncertain significance 544815 rs1555364743 14:65216738-65216738 14:64750020-64750020
11 SPTB NM_001308147.2(PLEKHG3):c.*6348G>TSNV Uncertain significance 544814 rs1555364746 14:65216769-65216769 14:64750051-64750051
12 SPTB NM_001355436.2(SPTB):c.6271C>A (p.Pro2091Thr)SNV Likely benign 544818 rs372733273 14:65233518-65233518 14:64766800-64766800

Expression for Congenital Hemolytic Anemia

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

Pathways for Congenital Hemolytic Anemia

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.25 SPTB SPTA1
2 10.43 SPTB SPTA1
3 9.83 TPI1 G6PD

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 cell cortex GO:0005938 9.32 SPTB SPTA1
2 cytoplasmic side of plasma membrane GO:0009898 9.26 SPTA1 G6PD
3 spectrin-associated cytoskeleton GO:0014731 9.16 SPTB SPTA1
4 spectrin GO:0008091 8.96 SPTB SPTA1
5 intrinsic component of the cytoplasmic side of the plasma membrane GO:0031235 8.62 SPTB SPTA1

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

# Name GO ID Score Top Affiliating Genes
1 ER to Golgi vesicle-mediated transport GO:0006888 9.26 SPTB SPTA1
2 actin filament organization GO:0007015 9.16 TF SPTA1
3 glucose metabolic process GO:0006006 8.96 TPI1 G6PD
4 actin filament capping GO:0051693 8.62 SPTB SPTA1

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

# Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 8.96 SPTB SPTA1
2 structural constituent of cytoskeleton GO:0005200 8.62 SPTB SPTA1

Sources for Congenital Hemolytic Anemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
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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