MCID: HMG001
MIFTS: 43

Hemoglobin C Disease

Categories: Blood diseases, Endocrine diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Hemoglobin C Disease

MalaCards integrated aliases for Hemoglobin C Disease:

Name: Hemoglobin C Disease 12 77 54 60 30 45 15 74
Hb C Disease 54 74
Hb-C Disease 12
Hemoglobin C 6

Characteristics:

Orphanet epidemiological data:

60
hemoglobin c disease
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Belgium); Age of onset: All ages; Age of death: normal life expectancy;

Classifications:



External Ids:

Disease Ontology 12 DOID:2859
MeSH 45 D006445
NCIt 51 C34675
SNOMED-CT 69 51053007
ICD10 34 D58.2
MESH via Orphanet 46 D006445
ICD10 via Orphanet 35 D58.2
UMLS via Orphanet 75 C0019021
Orphanet 60 ORPHA2132

Summaries for Hemoglobin C Disease

NIH Rare Diseases : 54 Hemoglobin C disease is a condition affecting a protein in the blood (hemoglobin) which transports oxygen throughout the body. Symptoms of this condition can include fatigue, weakness, and anemia. The spleen can also become enlarged as a result of this disease. For many people with this condition, symptoms are relatively mild and the lifespan is normal. Some people with this condition do not exhibit any symptoms at all. Treatment for any symptoms that do present include taking folic acid supplements. Hemoglobin C disease is caused by a mutation in the gene that provides instructions to the body to make hemoglobin. This mutation causes a change in the shape of the red blood cells so that oxygen isn't carried as well throughout the body. 

MalaCards based summary : Hemoglobin C Disease, also known as hb c disease, is related to sickle cell anemia and thalassemia. An important gene associated with Hemoglobin C Disease is HBB (Hemoglobin Subunit Beta), and among its related pathways/superpathways are Selenium Micronutrient Network and Factors involved in megakaryocyte development and platelet production. The drugs Fludarabine and alemtuzumab have been mentioned in the context of this disorder. Affiliated tissues include spleen, bone and liver.

Wikipedia : 77 Hemoglobin c (abbreviated as Hb C or HbC) is an abnormal hemoglobin in which substitution of a glutamic... more...

Related Diseases for Hemoglobin C Disease

Diseases in the Hemoglobin H Disease family:

Hemoglobin C Disease Hemoglobin D Disease
Hemoglobin E Disease Hemoglobin Se Disease

Diseases related to Hemoglobin C Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 116)
# Related Disease Score Top Affiliating Genes
1 sickle cell anemia 32.8 F2 HBB MTHFR
2 thalassemia 30.5 HBB HBD HBE1
3 sickle cell disease 30.4 HBB HBD
4 hemoglobinopathy 30.2 HBB HBD HBE1
5 fetal hemoglobin quantitative trait locus 1 30.1 HBB HBD
6 beta-thalassemia 29.9 HBB HBD HBE1
7 hemoglobin c-beta-thalassemia syndrome 12.2
8 hemoglobin lepore-beta-thalassemia syndrome 10.4 HBB HBD
9 hemoglobin d disease 10.4 HBB HBD
10 malignant secondary hypertension 10.4 HBB HBD
11 kluver-bucy syndrome 10.4 HBB HBD
12 blind loop syndrome 10.4 HBB HBD
13 sea-blue histiocyte disease 10.3 HBB HBE1
14 pleuropneumonia 10.3 HBB HBD
15 spherocytosis, type 2 10.3 HBB HBE1
16 iron overload in africa 10.3 HBB HLA-A
17 testicular infarct 10.3 HBB MTHFR
18 byssinosis 10.3 HLA-A MRAP
19 glaucomatocyclitic crisis 10.2 HLA-A MRAP
20 panuveitis 10.2 HLA-A MRAP
21 hematopoietic stem cell transplantation 10.2 HLA-A MTHFR
22 palindromic rheumatism 10.2 HLA-A MRAP
23 idiopathic bronchiectasis 10.2 CXCR1 HLA-A
24 splenic disease 10.2 F2 HBB
25 hemoglobin h disease 10.2 HBB HBD HBE1
26 chronic orbital inflammation 10.2 CSF3 MRAP
27 congenital hemolytic anemia 10.2 HBB HBD HBE1
28 autosomal genetic disease 10.2 HBB HBD HBE1
29 malignant essential hypertension 10.2 HBB HBD HLA-A
30 qualitative platelet defect 10.2 F2 HLA-A
31 osgood-schlatter's disease 10.2 HBB HBD MRAP
32 malaria 10.1
33 alpha thalassemia-intellectual disability syndrome type 1 10.1 HBB HBD MTHFR
34 spinal cord infarction 10.1 F2 MTHFR
35 mesenteric vascular occlusion 10.1 F2 MTHFR
36 sudden sensorineural hearing loss 10.1 F2 MTHFR
37 ischemic neuropathy 10.1 F2 MTHFR
38 cryptogenic cirrhosis 10.1 F2 MTHFR
39 adult acute lymphocytic leukemia 10.1 CSF3 MTHFR
40 porencephaly 10.1 F2 MTHFR
41 marantic endocarditis 10.1 F2 MTHFR
42 livedoid vasculitis 10.1 F2 MTHFR
43 hepatic infarction 10.1 F2 MTHFR
44 retinal vascular occlusion 10.1 F2 MTHFR
45 thrombophlebitis 10.1 F2 MTHFR
46 antithrombin iii deficiency 10.1 F2 MTHFR
47 buerger disease 10.1 F2 MTHFR
48 central retinal vein occlusion 10.1 F2 MTHFR
49 retinal vein occlusion 10.1 F2 MTHFR
50 splenic sequestration 10.1

Graphical network of the top 20 diseases related to Hemoglobin C Disease:



Diseases related to Hemoglobin C Disease

Symptoms & Phenotypes for Hemoglobin C Disease

Drugs & Therapeutics for Hemoglobin C Disease

Drugs for Hemoglobin C Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fludarabine Approved Phase 2,Not Applicable 75607-67-9, 21679-14-1 30751
2
alemtuzumab Approved, Investigational Phase 2 216503-57-0
3
Busulfan Approved, Investigational Phase 2 55-98-1 2478
4 Immunosuppressive Agents Phase 2,Not Applicable
5 Alkylating Agents Phase 2,Not Applicable
6 Immunologic Factors Phase 2,Not Applicable
7 Antineoplastic Agents, Alkylating Phase 2,Not Applicable
8 Antineoplastic Agents, Immunological Phase 2,Not Applicable
9 Antimetabolites Phase 2,Not Applicable
10 Antimetabolites, Antineoplastic Phase 2,Not Applicable
11 Pharmaceutical Solutions Phase 2,Phase 1
12
Vidarabine Approved, Investigational Not Applicable 24356-66-9 21704 32326
13
Cytarabine Approved, Experimental, Investigational Not Applicable 147-94-4, 65-46-3 6253
14
Bortezomib Approved, Investigational Not Applicable 179324-69-7 387447 93860
15
rituximab Approved Not Applicable 174722-31-7 10201696
16
Cyclophosphamide Approved, Investigational Not Applicable 50-18-0, 6055-19-2 2907
17 Antibodies Not Applicable
18 Immunoglobulins Not Applicable
19 Antiviral Agents Not Applicable
20 Anti-Infective Agents Not Applicable
21 Antirheumatic Agents Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Allogeneic Stem Cell Transplantation Following Chemotherapy in Patients With Hemoglobinopathies Completed NCT00153985 Phase 2 Busulfex;Fludarabine;Alemtuzumab
2 Phase 2 Study of MP4CO to Treat Vaso-occlusive Sickle Crisis Withdrawn NCT01925001 Phase 2 MP4CO;Sodium chloride solution
3 Far Infrared Radiation for Sickle Cell Pain Management Unknown status NCT00599482 Phase 1
4 Safety Study of MP4CO in Adult Sickle Cell Patients Completed NCT01356485 Phase 1 MP4CO;Sodium chloride solution
5 Evaluation of a Training Program for Homozygous Sickle Cell Disease Patients Completed NCT02571088 Not Applicable
6 Evaluation of HemoTypeSC as a Novel Rapid Test for Point-of-Care Screening for Sickle-Cell Disease, Hemoglobin C Disease, and Carrier Status in Low-Resource Settings Recruiting NCT03619798
7 Treatment of Sickle Cell Anemia With Stem Cell Transplant Terminated NCT01350232 Not Applicable Fludarabine;Cytarabine;Cyclophosphamide;Bortezomib;Rituximab

Search NIH Clinical Center for Hemoglobin C Disease

Cochrane evidence based reviews: hemoglobin c disease

Genetic Tests for Hemoglobin C Disease

Genetic tests related to Hemoglobin C Disease:

# Genetic test Affiliating Genes
1 Hemoglobin C Disease 30

Anatomical Context for Hemoglobin C Disease

MalaCards organs/tissues related to Hemoglobin C Disease:

42
Spleen, Bone, Liver, Testes, Bone Marrow, Placenta, Spinal Cord

Publications for Hemoglobin C Disease

Articles related to Hemoglobin C Disease:

(show top 50) (show all 133)
# Title Authors Year
1
Sickle Cell Hemoglobin C Disease Patient Undergoing Coronary Artery Bypass Grafting with Complete Exchange Blood Transfusion during Cardiopulmonary Bypass. ( 29921991 )
2018
2
The effects of exchange transfusion for prevention of complications during pregnancy of sickle hemoglobin C disease patients. ( 26337929 )
2016
3
Medullary Microvascular Thrombosis and Injury in Sickle Hemoglobin C Disease. ( 26546258 )
2016
4
Abnormal expression of inflammatory genes in placentas of women with sickle cell anemia and sickle hemoglobin C disease. ( 27546026 )
2016
5
Red blood cell nitric oxide synthase activation is increased in patients with sickle cell hemoglobin C disease. ( 25379969 )
2015
6
Hemoglobin C disease. ( 25488433 )
2015
7
Relationships between systemic vascular resistance, blood rheology and nitric oxide in children with sickle cell anemia or sickle cell-hemoglobin C disease. ( 23302597 )
2014
8
Impaired blood rheology plays a role in the chronic disorders associated with sickle cell-hemoglobin C disease. ( 24633868 )
2014
9
Severe proliferative retinopathy is associated with blood hyperviscosity in sickle cell hemoglobin-C disease but not in sickle cell anemia. ( 23076002 )
2013
10
Autoimmune haemolysis in unexpectedly mild sickle cell/hemoglobin C disease. ( 23760759 )
2013
11
Homozygous hemoglobin C disease. ( 24137818 )
2013
12
Diverse phenotypic expression of sickle cell hemoglobin C disease in an Indian family. ( 20556388 )
2011
13
Paravertebral mass in a patient with hemoglobin C disease. ( 21602071 )
2011
14
Hemoglobins S and C interfere with actin remodeling in Plasmodium falciparum-infected erythrocytes. ( 22075726 )
2011
15
Thrombotic thrombocytopenic purpura and multiorgan system failure in a child with sickle cell-hemoglobin C disease. ( 19525485 )
2010
16
Genetic variation in human HBB is associated with Plasmodium falciparum transmission. ( 20305663 )
2010
17
Red blood cell aggregation, aggregate strength and oxygen transport potential of blood are abnormal in both homozygous sickle cell anemia and sickle-hemoglobin C disease. ( 19644138 )
2009
18
Heme degradation and oxidative stress in murine models for hemoglobinopathies: thalassemia, sickle cell disease and hemoglobin C disease. ( 18262448 )
2008
19
Haemoglobin S and haemoglobin C: 'quick but costly' versus 'slow but gratis' genetic adaptations to Plasmodium falciparum malaria. ( 18048408 )
2008
20
Successful mobilization and transplantation of filgrastim mobilized hematopoietic stem cells in sickle cell-hemoglobin C disease. ( 16708064 )
2006
21
Homozygous hemoglobin C disease. ( 16276560 )
2005
22
Abnormal display of PfEMP-1 on erythrocytes carrying haemoglobin C may protect against malaria. ( 15973412 )
2005
23
The beta -globin recombinational hotspot reduces the effects of strong selection around HbC, a recently arisen mutation providing resistance to malaria. ( 16175509 )
2005
24
Images in clinical medicine. Homozygous hemoglobin C disease. ( 15215497 )
2004
25
Hemoglobin C disease. ( 15470225 )
2004
26
Hemoglobin C is associated with reduced Plasmodium falciparum parasitemia and low risk of mild malaria attack. ( 14613965 )
2004
27
Estimation of relative fitnesses from relative risk data and the predicted future of haemoglobin alleles S and C. ( 15000665 )
2004
28
Sickle cell hemoglobin C disease in Saudi Arabia. ( 12682691 )
2003
29
Life-threatening thrombotic thrombocytopenic purpura (TTP) in a patient with sickle cell-hemoglobin C disease. ( 12923661 )
2003
30
Haemoglobin C protects against clinical Plasmodium falciparum malaria. ( 11713529 )
2001
31
Hemoglobin C associated with protection from severe malaria in the Dogon of Mali, a West African population with a low prevalence of hemoglobin S. ( 11001883 )
2000
32
Intrathoracic extramedullary hematopoietic tumor in hemoglobin C disease. ( 9140301 )
1997
33
Intrathoracic extramedullary hematopoietic tumor in hemoglobin C disease. ( 9140302 )
1997
34
Acute splenic complications in children with sickle cell-hemoglobin C disease. ( 9202620 )
1997
35
Intrathoracic extramedullary hematopoietic tumor in hemoglobin C disease. ( 8639058 )
1996
36
Bacteremia in children with sickle hemoglobin C disease and sickle beta(+)-thalassemia: is prophylactic penicillin necessary? ( 7658261 )
1995
37
Iron deficiency and hemoglobin C disease. ( 7608805 )
1995
38
Evolution of a retinal hemorrhage in a patient with sickle cell-hemoglobin C disease. ( 7639661 )
1995
39
Retrospective diagnosis of sickle cell-hemoglobin C disease and parvovirus infection by molecular DNA analysis of postmortem tissue. ( 8522312 )
1995
40
Hemoglobin C disease in infancy and childhood. ( 7965426 )
1994
41
Concurrent sickle cell hemoglobin C disease and diabetes mellitus: no added risk of proliferative retinopathy? ( 7966431 )
1994
42
Thrombotic thrombocytopenic purpura associated with sickle cell-hemoglobin C disease. ( 7973909 )
1994
43
Fatal pneumococcal septicemia in hemoglobin SC disease. ( 8201467 )
1994
44
The obstetric performance of sickle cell disease patients and homozygous hemoglobin C disease patients in Ile-Ife, Nigeria. ( 1351002 )
1992
45
A fatal case of acute splenic sequestration in a 53-year-old woman with sickle-hemoglobin C disease. ( 1731518 )
1992
46
The distinct pathobiology of sickle cell-hemoglobin C disease. Therapeutic implications. ( 1864818 )
1991
47
Nucleotide sequence evidence of the unicentric origin of the beta C mutation in Africa. ( 1680789 )
1991
48
Acute renal failure in a patient with essential thrombocythemia, diabetes mellitus, and heterozygous hemoglobin C disease. ( 2300836 )
1990
49
Rapid detection of the hemoglobin C mutation by allele-specific polymerase chain reaction. ( 2239966 )
1990
50
Vasoocclusion with homozygous hemoglobin-C disease. ( 3239710 )
1988

Variations for Hemoglobin C Disease

ClinVar genetic disease variations for Hemoglobin C Disease:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HBB NM_000518.4(HBB): c.19G> A (p.Glu7Lys) single nucleotide variant Pathogenic rs33930165 GRCh37 Chromosome 11, 5248233: 5248233
2 HBB NM_000518.4(HBB): c.19G> A (p.Glu7Lys) single nucleotide variant Pathogenic rs33930165 GRCh38 Chromosome 11, 5227003: 5227003

Expression for Hemoglobin C Disease

Search GEO for disease gene expression data for Hemoglobin C Disease.

Pathways for Hemoglobin C Disease

Pathways related to Hemoglobin C Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.47 F2 HBB MTHFR
2 11 HBB HBD HBE1
3 10.85 CSF3 HBB

GO Terms for Hemoglobin C Disease

Cellular components related to Hemoglobin C Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 blood microparticle GO:0072562 9.46 F2 HBB HBD HBE1
2 hemoglobin complex GO:0005833 9.13 HBB HBD HBE1
3 haptoglobin-hemoglobin complex GO:0031838 8.8 HBB HBD HBE1

Biological processes related to Hemoglobin C Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular oxidant detoxification GO:0098869 9.5 HBB HBD HBE1
2 blood coagulation GO:0007596 9.46 F2 HBB HBD HBE1
3 protein heterooligomerization GO:0051291 9.43 HBB HBD HBE1
4 hydrogen peroxide catabolic process GO:0042744 9.13 HBB HBD HBE1
5 oxygen transport GO:0015671 8.8 HBB HBD HBE1

Molecular functions related to Hemoglobin C Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 9.58 HBB HBD HBE1
2 oxygen binding GO:0019825 9.54 HBB HBD HBE1
3 peroxidase activity GO:0004601 9.5 HBB HBD HBE1
4 oxygen carrier activity GO:0005344 9.43 HBB HBD HBE1
5 organic acid binding GO:0043177 9.33 HBB HBD HBE1
6 haptoglobin binding GO:0031720 9.13 HBB HBD HBE1
7 hemoglobin alpha binding GO:0031721 8.8 HBB HBD HBE1

Sources for Hemoglobin C Disease

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
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