MCID: HMG001
MIFTS: 28

Hemoglobin C Disease malady

Blood category

Summaries for Hemoglobin C Disease

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64Wikipedia, 33MalaCards
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Wikipedia:64 Hemoglobin C (abbreviated as Hb C or HbC) is an abnormal hemoglobin in which substitution of a glutamic... more...

MalaCards: Hemoglobin C Disease, also known as hb c disease, is related to hemoglobin d disease and sickle cell - hemoglobin c disease. An important gene associated with Hemoglobin C Disease is HBB (hemoglobin, beta). Affiliated tissues include brain, kidney and lung.

Aliases & Classifications for Hemoglobin C Disease

Sources:
8Disease Ontology, 43NIH Rare Diseases, 49Orphanet, 61UMLS, 35MeSH, 40NCIt, 57SNOMED-CT, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Blood


Characteristics (Orphanet epidemiological data):

49
hemoglobin c disease:
Inheritance: Autosomal recessive; Age of onset: Variable; Age of death: Normal


Aliases & Descriptions:

hemoglobin c disease 8 43 49 61
hb c disease 43 61
hb-c disease 8


External Ids:

Disease Ontology8 DOID:2859
MeSH35 D006445
NCIt40 C34675
MESH via Orphanet36 D006445
SNOMED-CT57 51053007
ICD10 via Orphanet26 D58.2
SNOMED-CT via Orphanet58 51053007
UMLS via Orphanet62 C0019021

Related Diseases for Hemoglobin C Disease

Sources:
17GeneCards, 18GeneDecks
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Graphical network of diseases related to Hemoglobin C Disease:



Diseases related to hemoglobin c disease

Clinical Features for Hemoglobin C Disease

Drugs & Therapeutics for Hemoglobin C Disease

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Hemoglobin C Disease

Drug clinical trials:

Search ClinicalTrials for Hemoglobin C Disease

Search NIH Clinical Center for Hemoglobin C Disease

Search CenterWatch for Hemoglobin C Disease

Genetic Tests for Hemoglobin C Disease

Anatomical Context for Hemoglobin C Disease

Sources:
33MalaCards
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MalaCards organs/tissues related to Hemoglobin C Disease:

33
Brain, Kidney, Lung, Spleen, Bone marrow, Whole blood, Heart, Colon, B cells, Fetal brain, Fetal lung

Animal Models for Hemoglobin C Disease or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Hemoglobin C Disease

Sources:
51PubMed
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Articles related to Hemoglobin C Disease:

(show top 50)    (show all 230)
idTitleAuthorsYear
1
Relationship between acute chest syndrome and the sympatho-vagal balance in adults with hemoglobin SS disease; a case control study. (22460267)
2013
2
Changes in the state of hemoglobin in patients with coronary heart disease and patients with circulatory failure. (24130998)
2013
3
A Rare Case of Hemoglobin E Hemoglobinopathy with Gaucher's Disease. (24426351)
2013
4
Altered red cell and platelet adhesion in hemolytic diseases: Hereditary spherocytosis, paroxysmal nocturnal hemoglobinuria and sickle cell disease. (24060729)
2013
5
Effect of scaling and root planing on erythrocyte count, hemoglobin and hematocrit in patients with chronic periodontal disease. (22947842)
2012
6
Hemoglobinopathy Learning Collaborative: using quality improvement (QI) to achieve equity in health care quality, coordination, and outcomes for sickle cell disease. (22864486)
2012
7
Correlation of low levels of nitrite and high levels of fetal hemoglobin in patients with sickle cell disease at baseline. (23049438)
2012
8
Fanconi syndrome and chronic kidney disease in paroxysmal nocturnal hemoglobinuria: effect of eculizumab therapy. (22981033)
2012
9
First report of successful stem cell transplantation in a patient with sickle cell hemoglobin D disease. (20502357)
2010
10
Hemoglobin H disease in Guangxi province, Southern China: clinical review of 357 patients. (20639625)
2010
11
Hemoglobin H disease due to a de novo mutation at the I+2-globin gene and an inherited common I+-thalassemia deletion found in a Chinese boy. (20691621)
2010
12
25-Hydroxyvitamin D deficiency and inflammation and their association with hemoglobin levels in chronic kidney disease. (19218791)
2009
13
Hemoglobin is inversely related to flow-mediated dilatation in chronic kidney disease. (19262460)
2009
14
Deoxygenated hemoglobin/myoglobin kinetics of forearm muscles from rest to exercise in patients with chronic obstructive pulmonary disease. (19155602)
2009
15
Native joint septic arthritis caused by Clostridium difficile in an 11-year old with hemoglobin SS disease. (19710591)
2009
16
Organ-specific hemosiderosis and functional correlation in Chinese patients with thalassemia intermedia and hemoglobin H disease. (19165482)
2009
17
Relationship of erythropoietin, fetal hemoglobin, and hydroxyurea treatment to tricuspid regurgitation velocity in children with sickle cell disease. (19724057)
2009
18
Impact of hemoglobin concentration on plasma B-type natriuretic peptide level and left ventricle echocardiographics characteristics in chronic kidney disease patients. (20120531)
2009
19
alpha-Hemoglobin stabilizing protein is not a suitable marker for a screening test for variant Creutzfeldt-Jakob disease. (18503615)
2008
20
Neonatal screening of hemoglobinopathies and G6PD deficiency in Catalonia (Spain). Molecular study of sickle cell disease associated with alpha thalassemia and G6PD deficiency]. (17669331)
2007
21
Normalization of hemoglobin level in patients with chronic kidney disease and anemia. (17108342)
2006
22
Premature neonate with apnea and trace amounts of hemoglobin S and A detected by high-performance liquid chromatography. Sickle cell trait/disease in a prematurely born baby with hampered switch from gamma-globin to beta-globin chain synthesis. (16683895)
2006
23
Images in clinical medicine. Homozygous hemoglobin C disease. (15215497)
2004
24
The effect of erythropoietin therapy and hemoglobin levels on the immune response to Engerix-B vaccination in chronic kidney disease. (12803511)
2003
25
Regional experience with newborn screening for sickle cell disease, other hemoglobinopathies and G6PD deficiency. (16868367)
2003
26
A human embryonic hemoglobin inhibits Hb S polymerization in vitro and restores a normal phenotype to mouse models of sickle cell disease. (12124399)
2002
27
Splenic function in Omani children with sickle cell disease: correlation with severity index, hemoglobin phenotype, iron status, and alpha-thalassemia trait. (12217195)
2002
28
N-RAS gene mutation in patients with aplastic anemia and aplastic anemia/ paroxysmal nocturnal hemoglobinuria during evolution to clonal disease. (10627475)
2000
29
Correction-spontaneous central retinal artery occlusion in hemoglobin SC disease(1) (11124334)
2000
30
Hemoglobin SC disease presenting as acute chest syndrome with ventilation-perfusion mismatches. (9973696)
1999
31
Case report: splenic sequestration and multiorgan failure as the presenting manifestation of hemoglobin SC disease. (8615389)
1996
32
Role of alternatively spliced beta E-globin mRNA on clinical severity of beta-thalassemia/hemoglobin E disease. (8629114)
1995
33
Hemoglobin C disease in infancy and childhood. (7965426)
1994
34
Augmentation by erythropoietin of the fetal-hemoglobin response to hydroxyurea in sickle cell disease. (7677965)
1993
35
Increase in spontaneous platelet aggregation in beta-thalassemia/hemoglobin E disease: a consequence of splenectomy. (1298991)
1992
36
The obstetric performance of sickle cell disease patients and homozygous hemoglobin C disease patients in Ile-Ife, Nigeria. (1351002)
1992
37
Genetic screening of newborns for sickle cell disease: correlation of DNA analysis with hemoglobin electrophoresis. (2004456)
1991
38
Cardiac involvement in beta-thalassemia/hemoglobin E disease: clinical and hemodynamic findings. (2237594)
1990
39
Acquired hemoglobin H disease in a case of refractory anemia with excess of blasts (RAEB) evolving into acute nonlymphoid leukemia. (6433631)
1984
40
Zinc and copper status in hemoglobin H disease and beta-thalassemia/hemoglobin E disease. (6817576)
1982
41
Hemoglobin constant spring (HbCS) and CS type hemoglobin H disease: a 3 family survey. (116823)
1979
42
Massive splenic infarction in sickle cell-hemoglobin C disease: angiographic findings. (410268)
1977
43
Red cell life span in sickle cell-hemoglobin C disease with a note about sickle cell-hemoglobin O ARAB. (1120186)
1975
44
Occlusion of the macular capillaries in sickle cell hemoglobin C disease. (4819448)
1974
45
SICKLE CELL--HEMOGLOBIN C DISEASE. (14208415)
1964
46
HEMOGLOBIN C DISEASE IN A SICILIAN-CANADIAN FAMILY. (14084707)
1963
47
Pregnancy in sickle cell, anemia, sickle cell-hemoglobin C disease, and variants thereof. (13649805)
1959
48
Vitreous hemorrhages associated with sickle cell-hemoglobin C disease. (13372691)
1956
49
Studies in sickle-cell anemia. V. Sickle-cell hemoglobin C disease; report of two cases in siblings with clinical and genetic observations and a brief review of the literature. (14387282)
1955
50
Thalassemia-hemoglobin C disease; a new syndrome presumably due to the combination of the genes for thalassemia and hemoglobin C. (13208756)
1954

Genetic Variations for Hemoglobin C Disease

Expression for genes affiliated with Hemoglobin C Disease

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hemoglobin C Disease

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

Pathways for genes affiliated with Hemoglobin C Disease

Compounds for genes affiliated with Hemoglobin C Disease

GO Terms for genes affiliated with Hemoglobin C Disease

Products for genes affiliated with Hemoglobin C Disease

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hemoglobin C Disease

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet