MCID: HMG001
MIFTS: 41

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 73 20 58 29 44 15 70
Hb C Disease 20 70
Hb-C Disease 12
Hemoglobin C 6

Characteristics:

Orphanet epidemiological data:

58
hemoglobin c disease
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Belgium); Age of onset: All ages; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:2859
MeSH 44 D006445
NCIt 50 C34675
SNOMED-CT 67 51053007
ICD10 32 D58.2
MESH via Orphanet 45 D006445
ICD10 via Orphanet 33 D58.2
UMLS via Orphanet 71 C0019021
Orphanet 58 ORPHA2132
UMLS 70 C0019021 C2930818

Summaries for Hemoglobin C Disease

GARD : 20 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 Factors involved in megakaryocyte development and platelet production and Malaria. The drugs Citalopram and Methylphenidate have been mentioned in the context of this disorder. Affiliated tissues include spleen, skeletal muscle and kidney.

Wikipedia : 73 Hemoglobin c (abbreviated as HbC) is an abnormal hemoglobin in which glutamic acid residue at the 6th... 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 98)
# Related Disease Score Top Affiliating Genes
1 sickle cell anemia 32.5 LOC107133510 LOC106099062 HBB
2 thalassemia 30.6 LOC107133510 LOC106099062 HBD HBB
3 sickle cell disease 30.5 SLC12A4 LOC107133510 LOC106099062 HBD HBB
4 splenic sequestration 30.4 SCN2A RHCE HBB
5 splenic infarction 30.4 LOC107133510 LOC106099062 HBE1 HBB
6 hemolytic anemia 30.3 RHCE LOC107133510 LOC106099062 HBB
7 deficiency anemia 30.3 LOC107133510 LOC106099062 HBE1 HBB
8 hemoglobin se disease 30.1 LOC107133510 LOC106099062 HBB
9 beta-thalassemia 29.9 LOC107133510 LOC106099062 HBE1 HBD HBB
10 beta-thalassemia major 29.9 LOC107133510 LOC106099062 HBB
11 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome 29.9 LOC107133510 LOC106099062 HBB
12 fetal hemoglobin quantitative trait locus 1 29.7 LOC107133510 LOC106099062 HBD HBB
13 malaria 29.6 LOC107133510 LOC106099062 HBE1 HBB GYPB
14 hemoglobinopathy 29.3 SCN2A RHCE LOC107133510 LOC106099062 HBQ1 HBE1
15 alpha-thalassemia 28.9 SCN2A LOC107133510 LOC106099062 HBQ1 HBE1 HBD
16 hereditary elliptocytosis 28.8 RHCE HBQ1 HBE1 HBB GYPB
17 hemoglobin e disease 28.7 SCN2A LOC107133510 LOC106099062 HBQ1 HBE1 HBD
18 hemoglobin lepore-beta-thalassemia syndrome 10.3 HBD HBB
19 middle lobe syndrome 10.3 HBD HBB
20 neuropathy, hereditary sensory and autonomic, type iib 10.3 HBD HBB
21 hemoglobin e-beta-thalassemia syndrome 10.2 LOC107133510 LOC106099062 HBB
22 sickle cell disease and related diseases 10.2 LOC107133510 LOC106099062 HBB
23 hemoglobin zurich 10.2 LOC107133510 LOC106099062 HBB
24 beta-thalassemia intermedia 10.2 LOC107133510 LOC106099062 HBB
25 methemoglobinemia, beta type 10.2 LOC107133510 LOC106099062 HBB
26 methemoglobinemia 10.2 LOC107133510 LOC106099062 HBB
27 methemoglobinemia, beta-globin type 10.2 LOC107133510 LOC106099062 HBB
28 spherocytosis, type 4 10.2 HBE1 HBB
29 beta-thalassemia, dominant inclusion body type 10.2 LOC107133510 LOC106099062 HBB
30 spherocytosis, type 3 10.2 HBE1 HBB
31 blood protein disease 10.1 HBE1 HBD HBB
32 erythrocytosis, familial, 6 10.1 LOC107133510 LOC106099062 HBB
33 glucosephosphate dehydrogenase deficiency 10.1 HBE1 HBB
34 thrombotic thrombocytopenic purpura 10.1
35 purpura 10.1
36 splenomegaly 10.1
37 thalassemia minor 10.1 LOC107133510 LOC106099062 HBD HBB
38 plasmodium falciparum malaria 10.1
39 osteomyelitis 10.0
40 acute chest syndrome 10.0
41 fetal hemoglobin quantitative trait locus 6 10.0
42 rh deficiency syndrome 9.9 RHCE GYPB
43 hereditary spherocytosis 9.9 HBE1 HBB GYPB
44 histiocytosis-lymphadenopathy plus syndrome 9.9 HBQ1 HBB
45 mononeuritis multiplex 9.9
46 priapism 9.9
47 otopalatodigital syndrome spectrum disorder 9.9 RHCE GYPB
48 retinal detachment 9.9
49 ocular motor apraxia 9.9
50 pyruvate kinase deficiency of red cells 9.9

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 26)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Citalopram Approved 59729-33-8 2771
2
Methylphenidate Approved, Investigational 113-45-1 4158
3
carbamide peroxide Approved 124-43-6
4
Fludarabine Approved 21679-14-1, 75607-67-9 30751
5
Cytarabine Approved, Investigational 147-94-4 6253
6
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
7
rituximab Approved 174722-31-7 10201696
8
Bortezomib Approved, Investigational 179324-69-7 387447 93860
9
Aspartic acid Approved, Nutraceutical 56-84-8 5960
10
Dexetimide Withdrawn 21888-98-2
11 Natriuretic Peptide, Brain
12 N-Methylaspartate
13 Antidepressive Agents
14 Calcium, Dietary
15 Antirheumatic Agents
16 Antineoplastic Agents, Immunological
17 Immunosuppressive Agents
18 Immunoglobulins
19 Alkylating Agents
20 Anti-Infective Agents
21 Antiviral Agents
22 Antimetabolites
23 Antibodies
24 Immunologic Factors
25
L-Alanine Nutraceutical 56-41-7 5950
26
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase 2 Multi-center, Randomized, Double-blind, Comparator-Controlled Dose Finding Study to Evaluate MP4CO for the Acute Treatment of Vaso-occlusive Crises in Subjects With Sickle Cell Disease Withdrawn NCT01925001 Phase 2 MP4CO;Sodium chloride solution
2 A Multi-center, Randomized, Double Blind, Dose Escalation Safety Study of MP4CO in Clinically Stable Adult Sickle Cell Patients Completed NCT01356485 Phase 1 MP4CO;Sodium chloride solution
3 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: a Multi-Center Unknown status NCT03619798
4 Evaluation of a Training Program for Homozygous Sickle Cell Disease Patients: Benefits on Physical Ability and Skeletal Muscle. An Interventional Pilot, Multicentric, Prospective, Longitudinal Study Completed NCT02571088
5 Exploring the Effect of Methylphenidate and Antidepressants on Cardiac Repolarisation. Active, not recruiting NCT03642405
6 Reduced Intensity Allogeneic Hematopoietic Stem Cell Transplantation for Sickle Cell Anemia From HLA Matched or Partially-Matched Related Donors 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 29

Anatomical Context for Hemoglobin C Disease

MalaCards organs/tissues related to Hemoglobin C Disease:

40
Spleen, Skeletal Muscle, Kidney, Bone Marrow, Brain

Publications for Hemoglobin C Disease

Articles related to Hemoglobin C Disease:

(show top 50) (show all 238)
# Title Authors PMID Year
1
Hemoglobins S and C interfere with actin remodeling in Plasmodium falciparum-infected erythrocytes. 6
22075726 2011
2
Genetic variation in human HBB is associated with Plasmodium falciparum transmission. 6
20305663 2010
3
Haemoglobin S and haemoglobin C: 'quick but costly' versus 'slow but gratis' genetic adaptations to Plasmodium falciparum malaria. 6
18048408 2008
4
The beta -globin recombinational hotspot reduces the effects of strong selection around HbC, a recently arisen mutation providing resistance to malaria. 6
16175509 2005
5
Abnormal display of PfEMP-1 on erythrocytes carrying haemoglobin C may protect against malaria. 6
15973412 2005
6
Hemoglobin C is associated with reduced Plasmodium falciparum parasitemia and low risk of mild malaria attack. 6
14613965 2004
7
Estimation of relative fitnesses from relative risk data and the predicted future of haemoglobin alleles S and C. 6
15000665 2004
8
Haemoglobin C protects against clinical Plasmodium falciparum malaria. 6
11713529 2001
9
Hemoglobin C associated with protection from severe malaria in the Dogon of Mali, a West African population with a low prevalence of hemoglobin S. 6
11001883 2000
10
Fatal pneumococcal septicemia in hemoglobin SC disease. 6
8201467 1994
11
Nucleotide sequence evidence of the unicentric origin of the beta C mutation in Africa. 6
1680789 1991
12
Rapid detection of the hemoglobin C mutation by allele-specific polymerase chain reaction. 6
2239966 1990
13
Developmental pattern of splenic dysfunction in sickle cell disorders. 6
2412200 1985
14
Evidence supporting a single origin of the beta(C)-globin gene in blacks. 6
9556665 1985
15
Clinical, hematological, and biochemical features of Hb SC disease. 6
7137165 1982
16
Some aspects of the pathophysiology of homozygous Hb CC erythrocytes. 6
7229029 1981
17
S-C hemoglobin: a clinical study. 6
14492555 1961
18
Four adult haemoglobin types in one person. 6
13685866 1961
19
A terminal peptide sequence of human haemoglobin? 6
14405428 1959
20
Clinical manifestations of hemoglobin C disorders. 6
13618691 1959
21
Protection afforded by sickle-cell trait against subtertian malareal infection. 6
13115700 1954
22
Some clinical, biochemical and genetic observations on hemoglobin C. 6
13108995 1953
23
A new inherited abnormality of human hemoglobin. 6
14808148 1950
24
The Inheritance of Sickle Cell Anemia. 6
17774955 1949
25
Assessment of Hemoglobin Variants in Patients Receiving Health Care at the Ho Teaching Hospital: A Three-Year Retrospective Study. 61
32256599 2020
26
Sickle Cell Anemia in Cuba: Prevention and Management, 1982-2018. 61
32335567 2019
27
Point-of-care screening for sickle cell disease in low-resource settings: A multi-center evaluation of HemoTypeSC, a novel rapid test. 61
30290004 2019
28
Proliferative retinopathy and maculopathy are two independent conditions in sickle cell disease: Is there a role of blood rheology?1. 61
29865045 2019
29
Sickle Cell Hemoglobin C Disease Patient Undergoing Coronary Artery Bypass Grafting with Complete Exchange Blood Transfusion during Cardiopulmonary Bypass. 61
29921991 2018
30
Hemoglobinosis C in Morocco : A report of 111 cas. 61
29878289 2017
31
Cerebral and muscle microvascular oxygenation in children with sickle cell disease: Influence of hematology, hemorheology and vasomotion. 61
28411485 2017
32
A rapid, inexpensive and disposable point-of-care blood test for sickle cell disease using novel, highly specific monoclonal antibodies. 61
27605462 2016
33
Abnormal expression of inflammatory genes in placentas of women with sickle cell anemia and sickle hemoglobin C disease. 61
27546026 2016
34
Medullary Microvascular Thrombosis and Injury in Sickle Hemoglobin C Disease. 61
26546258 2016
35
The effects of exchange transfusion for prevention of complications during pregnancy of sickle hemoglobin C disease patients. 61
26337929 2016
36
Rheology of red blood cells in patients with HbC disease. 61
25335812 2016
37
Red blood cell nitric oxide synthase activation is increased in patients with sickle cell hemoglobin C disease. 61
25379969 2015
38
Hemoglobin C disease. 61
25488433 2015
39
Indirect viscosimetric method is less accurate than ektacytometry for the measurement of red blood cell deformability. 61
23594502 2015
40
Rapid screening for sickle cell disease by polymerase chain reaction-high resolution melting analysis. 61
24718623 2014
41
Impaired blood rheology plays a role in the chronic disorders associated with sickle cell-hemoglobin C disease. 61
24633868 2014
42
Relationships between systemic vascular resistance, blood rheology and nitric oxide in children with sickle cell anemia or sickle cell-hemoglobin C disease. 61
23302597 2014
43
The impact of sickle cell disease on oral health-related quality of life. 61
24717705 2014
44
Homozygous hemoglobin C disease. 61
24137818 2013
45
Autoimmune haemolysis in unexpectedly mild sickle cell/hemoglobin C disease. 61
23760759 2013
46
Hematologic and hemorheological determinants of resting and exercise-induced hemoglobin oxygen desaturation in children with sickle cell disease. 61
23539539 2013
47
Prophylactic penicillin after 5 years of age in patients with sickle cell disease: a survey of sickle cell disease experts. 61
23193095 2013
48
Peripapillary retinal nerve fiber layer thickness in sickle-cell hemoglobinopathies using spectral-domain optical coherence tomography. 61
23218697 2013
49
Severe proliferative retinopathy is associated with blood hyperviscosity in sickle cell hemoglobin-C disease but not in sickle cell anemia. 61
23076002 2013
50
Brain Perfusion Impairment in Neurologically Asymptomatic Adult Patients with Sickle-Cell Disease Shown by Voxel-Based Analysis of SPECT Images. 61
24391625 2013

Variations for Hemoglobin C Disease

ClinVar genetic disease variations for Hemoglobin C Disease:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LOC106099062 , HBB , LOC107133510 NM_000518.4(HBB):c.220G>A (p.Asp74Asn) SNV other 446730 rs33945705 GRCh37: 11:5247902-5247902
GRCh38: 11:5226672-5226672
2 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.20A>T (p.Glu7Val) SNV other 446731 rs334 GRCh37: 11:5248232-5248232
GRCh38: 11:5227002-5227002
3 LOC106099062 , HBB , LOC107133510 NM_000518.4(HBB):c.19G>A (p.Glu7Lys) SNV Pathogenic 15126 rs33930165 GRCh37: 11:5248233-5248233
GRCh38: 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 HBE1 HBD HBB
2 10.65 HBB GYPB

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 HBE1 HBD HBB
2 hemoglobin complex GO:0005833 9.26 HBQ1 HBE1 HBD HBB
3 haptoglobin-hemoglobin complex GO:0031838 8.92 HBQ1 HBE1 HBD HBB

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 9.58 HBE1 HBD HBB
2 cellular oxidant detoxification GO:0098869 9.46 HBQ1 HBE1 HBD HBB
3 potassium ion import across plasma membrane GO:1990573 9.43 SLC12A9 SLC12A4
4 cell volume homeostasis GO:0006884 9.37 SLC12A9 SLC12A4
5 potassium ion homeostasis GO:0055075 9.32 SLC12A9 SLC12A4
6 chloride ion homeostasis GO:0055064 9.26 SLC12A9 SLC12A4
7 hydrogen peroxide catabolic process GO:0042744 9.26 HBQ1 HBE1 HBD HBB
8 oxygen transport GO:0015671 8.92 HBQ1 HBE1 HBD HBB

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 9.8 HBQ1 HBE1 HBD HBB CYP2C18
2 peroxidase activity GO:0004601 9.67 HBQ1 HBE1 HBD HBB
3 oxygen carrier activity GO:0005344 9.56 HBQ1 HBE1 HBD HBB
4 hemoglobin alpha binding GO:0031721 9.5 HBE1 HBD HBB
5 ammonium transmembrane transporter activity GO:0008519 9.48 SLC12A4 RHCE
6 potassium:chloride symporter activity GO:0015379 9.46 SLC12A9 SLC12A4
7 organic acid binding GO:0043177 9.46 HBQ1 HBE1 HBD HBB
8 cation:chloride symporter activity GO:0015377 9.43 SLC12A9 SLC12A4
9 haptoglobin binding GO:0031720 9.26 HBQ1 HBE1 HBD HBB
10 oxygen binding GO:0019825 9.02 HBQ1 HBE1 HBD HBB CYP2C18

Sources for Hemoglobin C Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....