MCID: HMG001
MIFTS: 42

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 76 53 59 29 44 15 73
Hb C Disease 53 73
Hb-C Disease 12
Hemoglobin C 6

Characteristics:

Orphanet epidemiological data:

59
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
ICD10 33 D58.2
MeSH 44 D006445
NCIt 50 C34675
SNOMED-CT 68 51053007
Orphanet 59 ORPHA2132
UMLS via Orphanet 74 C0019021
MESH via Orphanet 45 D006445
ICD10 via Orphanet 34 D58.2

Summaries for Hemoglobin C Disease

NIH Rare Diseases : 53 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 is Factors involved in megakaryocyte development and platelet production. The drugs Busulfan and alemtuzumab have been mentioned in the context of this disorder. Affiliated tissues include spleen, bone and brain.

Wikipedia : 76 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 all 47)
# Related Disease Score Top Affiliating Genes
1 sickle cell anemia 32.7 HBB MTHFR
2 thalassemia 30.1 HBB HBD HBE1
3 sickle cell disease 30.1 HBB HBD
4 hemoglobinopathy 30.0 HBB HBD HBE1
5 alpha-thalassemia 29.7 HBB HBE1
6 beta-thalassemia 29.6 HBB HBD HBE1
7 hemoglobin c-beta-thalassemia syndrome 12.2
8 hemoglobin lepore-beta-thalassemia syndrome 10.1 HBB HBD
9 hemoglobin d disease 10.1 HBB HBD
10 malignant secondary hypertension 10.1 HBB HBD
11 fetal hemoglobin quantitative trait locus 1 10.1 HBB HBD
12 kluver-bucy syndrome 10.1 HBB HBD
13 malignant essential hypertension 10.1 HBB HBD
14 blind loop syndrome 10.1 HBB HBD
15 sea-blue histiocyte disease 10.1 HBB HBE1
16 splenic sequestration 10.1
17 pleuropneumonia 10.1 HBB HBD
18 spherocytosis, type 2 10.0 HBB HBE1
19 testicular infarct 10.0 HBB MTHFR
20 thrombotic thrombocytopenic purpura 10.0
21 splenic infarction 10.0
22 purpura 10.0
23 byssinosis 10.0 CDIPT MRAP
24 hemoglobin e disease 10.0 HBB HBD HBE1
25 hemoglobin h disease 10.0 HBB HBD HBE1
26 congenital hemolytic anemia 10.0 HBB HBD HBE1
27 autosomal genetic disease 9.9 HBB HBD HBE1
28 osgood-schlatter's disease 9.9 HBB HBD MRAP
29 hereditary spherocytosis 9.9 HBB HBE1
30 mononeuritis multiplex 9.9
31 diabetes mellitus 9.9
32 hemolytic anemia 9.9
33 osteomyelitis 9.9
34 blood protein disease 9.9 HBB HBD MTHFR
35 alpha thalassemia-intellectual disability syndrome type 1 9.9 HBB HBD MTHFR
36 autosomal recessive disease 9.9 HBB HBE1
37 rheumatic fever-related antigen 9.8
38 thrombosis 9.8
39 gout 9.8
40 rheumatic fever 9.8
41 essential thrombocythemia 9.8
42 iron metabolism disease 9.8
43 sickle beta thalassemia 9.8
44 malaria 9.7
45 fetal hemoglobin quantitative trait locus 6 9.7
46 hereditary elliptocytosis 9.7
47 priapism 9.7

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 20)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Busulfan Approved, Investigational Phase 2 55-98-1 2478
2
alemtuzumab Approved, Investigational Phase 2 216503-57-0
3
Fludarabine Approved Phase 2,Not Applicable 75607-67-9, 21679-14-1 30751
4 Immunologic Factors Phase 2,Not Applicable
5 Antimetabolites, Antineoplastic Phase 2,Not Applicable
6 Alkylating Agents Phase 2,Not Applicable
7 Immunosuppressive Agents Phase 2,Not Applicable
8 Antineoplastic Agents, Alkylating Phase 2,Not Applicable
9 Antimetabolites Phase 2,Not Applicable
10 Pharmaceutical Solutions Phase 2,Phase 1
11
Bortezomib Approved, Investigational Not Applicable 179324-69-7 387447 93860
12
Cyclophosphamide Approved, Investigational Not Applicable 6055-19-2, 50-18-0 2907
13
Vidarabine Approved, Investigational Not Applicable 24356-66-9 32326 21704
14
Cytarabine Approved, Investigational Not Applicable 147-94-4 6253
15
rituximab Approved Not Applicable 174722-31-7 10201696
16 Immunoglobulins Not Applicable
17 Antiviral Agents Not Applicable
18 Antirheumatic Agents Not Applicable
19 Anti-Infective Agents Not Applicable
20 Antibodies 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 29

Anatomical Context for Hemoglobin C Disease

MalaCards organs/tissues related to Hemoglobin C Disease:

41
Spleen, Bone, Brain, Heart, Testes, Skeletal Muscle, Bone Marrow

Publications for Hemoglobin C Disease

Articles related to Hemoglobin C Disease:

(show top 50) (show all 102)
# 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
Abnormal expression of inflammatory genes in placentas of women with sickle cell anemia and sickle hemoglobin C disease. ( 27546026 )
2016
3
The effects of exchange transfusion for prevention of complications during pregnancy of sickle hemoglobin C disease patients. ( 26337929 )
2015
4
Medullary Microvascular Thrombosis and Injury in Sickle Hemoglobin C Disease. ( 26546258 )
2015
5
Hemoglobin C disease. ( 25488433 )
2015
6
Impaired blood rheology plays a role in the chronic disorders associated with sickle cell-hemoglobin C disease. ( 24633868 )
2014
7
Red blood cell nitric oxide synthase activation is increased in patients with sickle cell hemoglobin C disease. ( 25379969 )
2014
8
Autoimmune haemolysis in unexpectedly mild sickle cell/hemoglobin C disease. ( 23760759 )
2013
9
Homozygous hemoglobin C disease. ( 24137818 )
2013
10
Relationships between systemic vascular resistance, blood rheology and nitric oxide in children with sickle cell anemia or sickle cell-hemoglobin C disease. ( 23302597 )
2013
11
Severe proliferative retinopathy is associated with blood hyperviscosity in sickle cell hemoglobin-C disease but not in sickle cell anemia. ( 23076002 )
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
Thrombotic thrombocytopenic purpura and multiorgan system failure in a child with sickle cell-hemoglobin C disease. ( 19525485 )
2010
15
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
16
Heme degradation and oxidative stress in murine models for hemoglobinopathies: thalassemia, sickle cell disease and hemoglobin C disease. ( 18262448 )
2008
17
Successful mobilization and transplantation of filgrastim mobilized hematopoietic stem cells in sickle cell-hemoglobin C disease. ( 16708064 )
2006
18
Homozygous hemoglobin C disease. ( 16276560 )
2005
19
Images in clinical medicine. Homozygous hemoglobin C disease. ( 15215497 )
2004
20
Hemoglobin C disease. ( 15470225 )
2004
21
Life-threatening thrombotic thrombocytopenic purpura (TTP) in a patient with sickle cell-hemoglobin C disease. ( 12923661 )
2003
22
Sickle cell hemoglobin C disease in Saudi Arabia. ( 12682691 )
2003
23
Intrathoracic extramedullary hematopoietic tumor in hemoglobin C disease. ( 9140301 )
1997
24
Acute splenic complications in children with sickle cell-hemoglobin C disease. ( 9202620 )
1997
25
Intrathoracic extramedullary hematopoietic tumor in hemoglobin C disease. ( 9140302 )
1997
26
Intrathoracic extramedullary hematopoietic tumor in hemoglobin C disease. ( 8639058 )
1996
27
Retrospective diagnosis of sickle cell-hemoglobin C disease and parvovirus infection by molecular DNA analysis of postmortem tissue. ( 8522312 )
1995
28
Bacteremia in children with sickle hemoglobin C disease and sickle beta(+)-thalassemia: is prophylactic penicillin necessary? ( 7658261 )
1995
29
Iron deficiency and hemoglobin C disease. ( 7608805 )
1995
30
Evolution of a retinal hemorrhage in a patient with sickle cell-hemoglobin C disease. ( 7639661 )
1995
31
Thrombotic thrombocytopenic purpura associated with sickle cell-hemoglobin C disease. ( 7973909 )
1994
32
Concurrent sickle cell hemoglobin C disease and diabetes mellitus: no added risk of proliferative retinopathy? ( 7966431 )
1994
33
Hemoglobin C disease in infancy and childhood. ( 7965426 )
1994
34
The obstetric performance of sickle cell disease patients and homozygous hemoglobin C disease patients in Ile-Ife, Nigeria. ( 1351002 )
1992
35
A fatal case of acute splenic sequestration in a 53-year-old woman with sickle-hemoglobin C disease. ( 1731518 )
1992
36
The distinct pathobiology of sickle cell-hemoglobin C disease. Therapeutic implications. ( 1864818 )
1991
37
Acute renal failure in a patient with essential thrombocythemia, diabetes mellitus, and heterozygous hemoglobin C disease. ( 2300836 )
1990
38
Vasoocclusion with homozygous hemoglobin-C disease. ( 3239710 )
1988
39
Clinical presentation of sickle cell-hemoglobin C disease. ( 3761071 )
1986
40
Regulation of cation content and cell volume in hemoglobin erythrocytes from patients with homozygous hemoglobin C disease. ( 3998150 )
1985
41
Mild splenic sequestration crises in sickle-hemoglobin C disease. ( 6723180 )
1984
42
Sickle-cell hemoglobin C disease in pregnancy: report of a case with review of the literature. ( 7380681 )
1980
43
Outcome of pregnancy in sickle cell anemia and sickle cell-hemoglobin C disease. An analysis of 181 pregnancies in 98 patients, and a review of the literature. ( 7416213 )
1980
44
Massive splenic infarction in sickle cell-hemoglobin C disease: angiographic findings. ( 410268 )
1977
45
Splenic sequestration syndrome at mountain altitudes in sickle/hemoglobin C disease. ( 830911 )
1977
46
Spontaneous rupture of the spleen in homozygous hemoglobin C disease. ( 576317 )
1977
47
Splenic sequestration syndrome in sickle/hemoglobin C disease at low altitude. ( 874706 )
1977
48
Severe proliferative retinopathy as the only sign of sickle cell hemoglobin C disease. ( 1275039 )
1976
49
Splenic infarction in sickle cell-hemoglobin C disease. Demonstration by selective splenic arteriogram and scintillation scan. ( 949192 )
1976
50
Red cell life span in sickle cell-hemoglobin C disease with a note about sickle cell-hemoglobin O ARAB. ( 1120186 )
1975

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 11 HBB HBD HBE1

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 9.33 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 blood coagulation GO:0007596 9.5 HBB HBD HBE1
2 cellular oxidant detoxification GO:0098869 9.43 HBB HBD HBE1
3 protein heterooligomerization GO:0051291 9.33 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 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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