MCID: HMG001
MIFTS: 39

Hemoglobin C Disease

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

Aliases & Classifications for Hemoglobin C Disease

MalaCards integrated aliases for Hemoglobin C Disease:

Name: Hemoglobin C Disease 12 72 49 55 28 41 14 69
Hb C Disease 49 69
Hb-C Disease 12

Characteristics:

Orphanet epidemiological data:

55
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 32 D58.2
MeSH 41 D006445
NCIt 46 C34675
SNOMED-CT 64 51053007
Orphanet 55 ORPHA2132
MESH via Orphanet 42 D006445
UMLS via Orphanet 70 C0019021
ICD10 via Orphanet 33 D58.2

Summaries for Hemoglobin C Disease

NIH Rare Diseases : 49 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.  Last updated: 11/10/2016

MalaCards based summary : Hemoglobin C Disease, also known as hb c disease, is related to sickle cell anemia and sickle cell disease. 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 alemtuzumab and Busulfan have been mentioned in the context of this disorder. Affiliated tissues include spleen, placenta and bone.

Wikipedia : 72 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 40)
# Related Disease Score Top Affiliating Genes
1 sickle cell anemia 32.4 HBB MTHFR
2 sickle cell disease 30.0 HBB HBD
3 hemoglobinopathy 29.9 HBB HBD
4 thalassemia 29.8 HBB HBD HBE1
5 hemoglobin lepore-beta-thalassemia syndrome 10.3 HBB HBD
6 hemoglobin d disease 10.3 HBB HBD
7 fetal hemoglobin quantitative trait locus 1 10.2 HBB HBD
8 malignant secondary hypertension 10.2 HBB HBD
9 kluver-bucy syndrome 10.2 HBB HBD
10 malignant essential hypertension 10.2 HBB HBD
11 pleuropneumonia 10.2 HBB HBD
12 spherocytosis, type 2 10.2 HBB HBE1
13 testicular infarct 10.1 HBB MTHFR
14 alpha-thalassemia 10.0 HBB HBE1
15 byssinosis 10.0 CDIPT MRAP
16 splenic sequestration 10.0
17 hemoglobin e disease 9.9 HBB HBD HBE1
18 congenital hemolytic anemia 9.9 HBB HBD HBE1
19 autosomal recessive disease 9.9 HBB HBE1
20 beta-thalassemia 9.9 HBB HBD HBE1
21 osgood-schlatter's disease 9.9 HBB HBD MRAP
22 thrombotic thrombocytopenic purpura 9.9
23 splenic infarction 9.9
24 purpura 9.9
25 diabetes mellitus 9.8
26 hemolytic anemia 9.8
27 osteomyelitis 9.8
28 hereditary spherocytosis 9.8 HBB HBE1
29 hemoglobin h disease 9.7 HBB HBD HBE1 SCN2A
30 autosomal genetic disease 9.7 HBB HBD HBE1 SCN2A
31 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy 9.7
32 rheumatic fever-related antigen 9.7
33 aging 9.7
34 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.7
35 thrombosis 9.7
36 gout 9.7
37 rheumatic fever 9.7
38 essential thrombocythemia 9.7
39 iron metabolism disease 9.7
40 retinitis 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 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
alemtuzumab Approved, Investigational Phase 2 216503-57-0
2
Busulfan Approved, Investigational Phase 2 55-98-1 2478
3
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
4 Alkylating Agents Phase 2
5 Antimetabolites Phase 2
6 Antimetabolites, Antineoplastic Phase 2
7 Immunosuppressive Agents Phase 2
8 Pharmaceutical Solutions Phase 2,Phase 1
9
Bortezomib Approved, Investigational 179324-69-7 387447 93860
10
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
11
Cytarabine Approved, Investigational 147-94-4 6253
12
rituximab Approved 174722-31-7 10201696
13
Vidarabine Approved, Investigational 24356-66-9 21704 32326
14 Antibodies
15 Anti-Infective Agents
16 Antirheumatic Agents
17 Antiviral Agents
18 Immunoglobulins

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
6 Treatment of Sickle Cell Anemia With Stem Cell Transplant Terminated NCT01350232 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 28

Anatomical Context for Hemoglobin C Disease

MalaCards organs/tissues related to Hemoglobin C Disease:

38
Spleen, Placenta, Bone, Bone Marrow

Publications for Hemoglobin C Disease

Articles related to Hemoglobin C Disease:

(show top 50) (show all 97)
# Title Authors Year
1
Abnormal expression of inflammatory genes in placentas of women with sickle cell anemia and sickle hemoglobin C disease. ( 27546026 )
2016
2
Hemoglobin C disease. ( 25488433 )
2015
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
Red blood cell nitric oxide synthase activation is increased in patients with sickle cell hemoglobin C disease. ( 25379969 )
2014
6
Impaired blood rheology plays a role in the chronic disorders associated with sickle cell-hemoglobin C disease. ( 24633868 )
2014
7
Severe proliferative retinopathy is associated with blood hyperviscosity in sickle cell hemoglobin-C disease but not in sickle cell anemia. ( 23076002 )
2013
8
Relationships between systemic vascular resistance, blood rheology and nitric oxide in children with sickle cell anemia or sickle cell-hemoglobin C disease. ( 23302597 )
2013
9
Autoimmune haemolysis in unexpectedly mild sickle cell/hemoglobin C disease. ( 23760759 )
2013
10
Homozygous hemoglobin C disease. ( 24137818 )
2013
11
Diverse phenotypic expression of sickle cell hemoglobin C disease in an Indian family. ( 20556388 )
2011
12
Paravertebral mass in a patient with hemoglobin C disease. ( 21602071 )
2011
13
Thrombotic thrombocytopenic purpura and multiorgan system failure in a child with sickle cell-hemoglobin C disease. ( 19525485 )
2010
14
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
15
Heme degradation and oxidative stress in murine models for hemoglobinopathies: thalassemia, sickle cell disease and hemoglobin C disease. ( 18262448 )
2008
16
Successful mobilization and transplantation of filgrastim mobilized hematopoietic stem cells in sickle cell-hemoglobin C disease. ( 16708064 )
2006
17
Homozygous hemoglobin C disease. ( 16276560 )
2005
18
Hemoglobin C disease. ( 15470225 )
2004
19
Images in clinical medicine. Homozygous hemoglobin C disease. ( 15215497 )
2004
20
Sickle cell hemoglobin C disease in Saudi Arabia. ( 12682691 )
2003
21
Life-threatening thrombotic thrombocytopenic purpura (TTP) in a patient with sickle cell-hemoglobin C disease. ( 12923661 )
2003
22
Acute splenic complications in children with sickle cell-hemoglobin C disease. ( 9202620 )
1997
23
Intrathoracic extramedullary hematopoietic tumor in hemoglobin C disease. ( 9140302 )
1997
24
Intrathoracic extramedullary hematopoietic tumor in hemoglobin C disease. ( 9140301 )
1997
25
Intrathoracic extramedullary hematopoietic tumor in hemoglobin C disease. ( 8639058 )
1996
26
Retrospective diagnosis of sickle cell-hemoglobin C disease and parvovirus infection by molecular DNA analysis of postmortem tissue. ( 8522312 )
1995
27
Evolution of a retinal hemorrhage in a patient with sickle cell-hemoglobin C disease. ( 7639661 )
1995
28
Iron deficiency and hemoglobin C disease. ( 7608805 )
1995
29
Thrombotic thrombocytopenic purpura associated with sickle cell-hemoglobin C disease. ( 7973909 )
1994
30
Concurrent sickle cell hemoglobin C disease and diabetes mellitus: no added risk of proliferative retinopathy? ( 7966431 )
1994
31
Hemoglobin C disease in infancy and childhood. ( 7965426 )
1994
32
The obstetric performance of sickle cell disease patients and homozygous hemoglobin C disease patients in Ile-Ife, Nigeria. ( 1351002 )
1992
33
A fatal case of acute splenic sequestration in a 53-year-old woman with sickle-hemoglobin C disease. ( 1731518 )
1992
34
The distinct pathobiology of sickle cell-hemoglobin C disease. Therapeutic implications. ( 1864818 )
1991
35
Acute renal failure in a patient with essential thrombocythemia, diabetes mellitus, and heterozygous hemoglobin C disease. ( 2300836 )
1990
36
Vasoocclusion with homozygous hemoglobin-C disease. ( 3239710 )
1988
37
Clinical presentation of sickle cell-hemoglobin C disease. ( 3761071 )
1986
38
Regulation of cation content and cell volume in hemoglobin erythrocytes from patients with homozygous hemoglobin C disease. ( 3998150 )
1985
39
Mild splenic sequestration crises in sickle-hemoglobin C disease. ( 6723180 )
1984
40
Sickle-cell hemoglobin C disease in pregnancy: report of a case with review of the literature. ( 7380681 )
1980
41
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
42
Splenic sequestration syndrome at mountain altitudes in sickle/hemoglobin C disease. ( 830911 )
1977
43
Spontaneous rupture of the spleen in homozygous hemoglobin C disease. ( 576317 )
1977
44
Splenic sequestration syndrome in sickle/hemoglobin C disease at low altitude. ( 874706 )
1977
45
Massive splenic infarction in sickle cell-hemoglobin C disease: angiographic findings. ( 410268 )
1977
46
Splenic infarction in sickle cell-hemoglobin C disease. Demonstration by selective splenic arteriogram and scintillation scan. ( 949192 )
1976
47
Severe proliferative retinopathy as the only sign of sickle cell hemoglobin C disease. ( 1275039 )
1976
48
Red cell life span in sickle cell-hemoglobin C disease with a note about sickle cell-hemoglobin O ARAB. ( 1120186 )
1975
49
Occlusion of the macular capillaries in sickle cell hemoglobin C disease. ( 4819448 )
1974
50
Sickle cell and sickle cell-hemoglobin C disease during pregnancy. ( 5049901 )
1972

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,protective rs33930165 GRCh37 Chromosome 11, 5248233: 5248233

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 9.13 HBB HBD HBE1
2 hemoglobin complex GO:0005833 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 protein heterooligomerization GO:0051291 9.16 HBB HBE1
2 blood coagulation GO:0007596 9.13 HBB HBD HBE1
3 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 iron ion binding GO:0005506 9.43 HBB HBD HBE1
2 heme binding GO:0020037 9.33 HBB HBD HBE1
3 oxygen binding GO:0019825 9.13 HBB HBD HBE1
4 oxygen carrier activity GO:0005344 8.8 HBB HBD HBE1

Sources for Hemoglobin C Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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