MCID: HMG001
MIFTS: 28

Hemoglobin C Disease malady

Blood diseases category

Summaries for Hemoglobin C Disease

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63Wikipedia, 32MalaCards
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Wikipedia:63 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 sickle cell anemia and splenic disease. An important gene associated with Hemoglobin C Disease is HBB (hemoglobin, beta). Affiliated tissues include spleen, bone marrow and bone.

Aliases & Classifications for Hemoglobin C Disease

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 48Orphanet, 60UMLS, 34MeSH, 39NCIt, 56SNOMED-CT, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
hemoglobin c disease:
Inheritance: Autosomal recessive; Age of onset: Variable; Age of death: Normal


Aliases & Descriptions:

hemoglobin c disease 8 42 48 60
hb c disease 42 60
hb-c disease 8


External Ids:

Disease Ontology8 DOID:2859
MeSH34 D006445
NCIt39 C34675
MESH via Orphanet35 D006445
SNOMED-CT56 51053007
ICD10 via Orphanet26 D58.2
SNOMED-CT via Orphanet57 51053007
UMLS via Orphanet61 C0019021

Related Diseases for Hemoglobin C Disease

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Hemoglobin C Disease:



Diseases related to hemoglobin c disease

Clinical Features for Hemoglobin C Disease

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Drugs & Therapeutics for Hemoglobin C Disease

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Sources:
5CenterWatch, 41NIH 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

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Anatomical Context for Hemoglobin C Disease

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32MalaCards
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MalaCards organs/tissues related to Hemoglobin C Disease:

32
Spleen, Bone marrow, Bone

Animal Models for Hemoglobin C Disease or affiliated genes

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Publications for Hemoglobin C Disease

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50PubMed
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Articles related to Hemoglobin C Disease:

(show top 50)    (show all 96)
idTitleAuthorsYear
1
Severe proliferative retinopathy is associated with blood hyperviscosity in sickle cell hemoglobin-C disease but not in sickle cell anemia. (23076002)
2013
2
Relationships between systemic vascular resistance, blood rheology and nitric oxide in children with sickle cell anemia or sickle cell-hemoglobin C disease. (23302597)
2013
3
Prevalence of sickle cell disease, hemoglobin S, and hemoglobin C among Haitian newborns. (23757318)
2013
4
Autoimmune haemolysis in unexpectedly mild sickle cell/hemoglobin C disease. (23760759)
2013
5
Diverse phenotypic expression of sickle cell hemoglobin C disease in an Indian family. (20556388)
2011
6
Thrombotic thrombocytopenic purpura and multiorgan system failure in a child with sickle cell-hemoglobin C disease. (19525485)
2010
7
Heme degradation and oxidative stress in murine models for hemoglobinopathies: thalassemia, sickle cell disease and hemoglobin C disease. (18262448)
2008
8
Successful mobilization and transplantation of filgrastim mobilized hematopoietic stem cells in sickle cell-hemoglobin C disease. (16708064)
2006
9
Homozygous hemoglobin C disease. (16276560)
2005
10
Life-threatening thrombotic thrombocytopenic purpura (TTP) in a patient with sickle cell-hemoglobin C disease. (12923661)
2003
11
Intrathoracic extramedullary hematopoietic tumor in hemoglobin C disease. (9140301)
1997
12
Intrathoracic extramedullary hematopoietic tumor in hemoglobin C disease. (8639058)
1996
13
Retrospective diagnosis of sickle cell-hemoglobin C disease and parvovirus infection by molecular DNA analysis of postmortem tissue. (8522312)
1995
14
Iron deficiency and hemoglobin C disease. (7608805)
1995
15
A fatal case of acute splenic sequestration in a 53-year-old woman with sickle-hemoglobin C disease. (1731518)
1992
16
The distinct pathobiology of sickle cell-hemoglobin C disease. Therapeutic implications. (1864818)
1991
17
Vasoocclusion with homozygous hemoglobin-C disease. (3239710)
1988
18
Splenic infarction at low altitude in a child with hemoglobin S-C disease. (3042248)
1988
19
Mild splenic sequestration crises in sickle-hemoglobin C disease. (6723180)
1984
20
Splenic sequestration syndrome in sickle/hemoglobin C disease at low altitude. (874706)
1977
21
Splenic sequestration syndrome at mountain altitudes in sickle/hemoglobin C disease. (830911)
1977
22
Splenic infarction in sickle cell-hemoglobin C disease. Demonstration by selective splenic arteriogram and scintillation scan. (949192)
1976
23
Severe proliferative retinopathy as the only sign of sickle cell hemoglobin C disease. (1275039)
1976
24
Red cell life span in sickle cell-hemoglobin C disease with a note about sickle cell-hemoglobin O ARAB. (1120186)
1975
25
Occlusion of the macular capillaries in sickle cell hemoglobin C disease. (4819448)
1974
26
Sickle cell and sickle cell-hemoglobin C disease during pregnancy. (5049901)
1972
27
Fractionation studies of copper in erythrocytes from normal, sickle cell anemia, and hemoglobin C disease. (5423505)
1970
28
Oral manifestations of hemoglobinopathies. A case of homozygous hemoglobin C disease diagnosed as a result of dental radiographic changes. (5273837)
1970
29
The relation between age and renal concentrating capacity in sickle cell disease and hemoglobin C disease. (5435231)
1970
30
Molecular mechanism of hemolytic anemia in homozygous hemoglobin C disease. Electron microscopic study by the freeze-etching technique. (5807277)
1969
31
Hemoglobin S-C disease presenting as acute cor pulmonale. (5673103)
1968
32
Thalassemia--hemoglobin C disease in white siblings. (5989222)
1966
33
Sickle cell hemoglobin-C disease. Two case reports. (13989386)
1963
34
Sickle-cell hemoglobin/hemoglobin-C disease. A report of three cases. (13878797)
1962
35
Salmonella typhimurium osteomyelitis with sickle cell-hemoglobin C disease: a review and case report. (13785022)
1961
36
Hemoglobin C disease. Report of a case in a 12 year old Negro. (13908880)
1961
37
Sickle cell-hemoglobin C disease; report of a case associated with sudden coma in the puerperium. (13633147)
1959
38
Sickle cell-hemoglobin C disease and pregnancy, including a case of osteomyelitis. (13649807)
1959
39
Pregnancy in sickle cell, anemia, sickle cell-hemoglobin C disease, and variants thereof. (13649805)
1959
40
Homozygous hemoglobin C disease: report of three cases. (13545731)
1958
41
Vitreous hemorrhage associated with sickle-cell trait and sickle-cell hemoglobin-C disease. (13533498)
1958
42
Homozygous hemoglobin C disease; relation to military service. (13422753)
1957
43
Homozygous hemoglobin C disease in a 79 year old man with gout. (13403527)
1957
44
Sickle-cell-hemoglobin-C disease; report of a case with electrophoretic studies of hemoglobin in family members. (13275117)
1956
45
Vitreous hemorrhages associated with sickle cell-hemoglobin C disease. (13372691)
1956
46
Splenic infarction in a patient with sickle-cell-hemoglobin-c disease; report of a case occurring following air travel. (13354018)
1956
47
Homozygous hemoglobin C disease in siblings: further comment on intraerythrocytic crystals. (13293203)
1956
48
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
49
Studies on abnormal hemoglobins. IX. Pure (homozygous) hemoglobin C disease. (13208754)
1954
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

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Expression for genes affiliated with Hemoglobin C Disease

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

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Pathways for genes affiliated with Hemoglobin C Disease

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Compounds for genes affiliated with Hemoglobin C Disease

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GO Terms for genes affiliated with Hemoglobin C Disease

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Products for genes affiliated with Hemoglobin C Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hemoglobin C Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet