MCID: HMG022
MIFTS: 19

Hemoglobin C - Beta-Thalassemia malady

Blood diseases, Rare diseases categories
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Summaries for Hemoglobin C - Beta-Thalassemia

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33MalaCards
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MalaCards: Hemoglobin C - Beta-Thalassemia, also known as thalassemia-hemoglobin c disease, is related to beta thalassemia and thalassemia, and has symptoms including splenomegaly, anaemia and microcytic anemia. An important gene associated with Hemoglobin C - Beta-Thalassemia is HBB (hemoglobin, beta). Affiliated tissues include myeloid.

Aliases & Classifications for Hemoglobin C - Beta-Thalassemia

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49Orphanet, 62UMLS, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
hemoglobin c - beta-thalassemia:
Inheritance: Autosomal recessive


Aliases & Descriptions:

hemoglobin c - beta-thalassemia 49
thalassemia-hemoglobin c disease 62
hbc - beta-thalassemia 49
c-beta-thalassemia 49


External Ids:

ICD10 via Orphanet26 D58.2
SNOMED-CT via Orphanet59 61777009

Related Diseases for Hemoglobin C - Beta-Thalassemia

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17GeneCards, 18GeneDecks
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Diseases in the Hemoglobin E - Beta-Thalassemia family:

hemoglobin c - beta-thalassemia

Diseases related to Hemoglobin C - Beta-Thalassemia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1beta thalassemia10.7
2thalassemia10.7
3sarcoidosis10.3

Symptoms for Hemoglobin C - Beta-Thalassemia

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49Orphanet
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Symptoms:

49
  • splenomegaly
  • anaemia
  • microcytic anemia
  • hemoglobinosis/hemoglobinopathy

Drugs & Therapeutics for Hemoglobin C - Beta-Thalassemia

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Search NIH Clinical Center for Hemoglobin C - Beta-Thalassemia

Genetic Tests for Hemoglobin C - Beta-Thalassemia

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Anatomical Context for Hemoglobin C - Beta-Thalassemia

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33MalaCards
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MalaCards organs/tissues related to Hemoglobin C - Beta-Thalassemia:

33
Myeloid

Animal Models for Hemoglobin C - Beta-Thalassemia or affiliated genes

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Publications for Hemoglobin C - Beta-Thalassemia

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52PubMed
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Articles related to Hemoglobin C - Beta-Thalassemia:

idTitleAuthorsYear
1
Fatal splenic rupture in a pregnant woman with hemoglobin C/beta-thalassemia and myeloid metaplasia. (16879031)
2006
2
Red cell osmotic fragility studies in hemoglobin C-beta thalassemia: osmotically resistant microspherocytes. (14641140)
2003
3
Hemoglobin C/beta+ thalassemia and sarcoidosis. (7485093)
1995
4
Double heterozygosis for hemoglobin C-beta thalassemia: description of a Spanish family. Hemoglobin C-beta thalassemia in a Spanish family. (639336)
1978

Variations for Hemoglobin C - Beta-Thalassemia

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Expression for genes affiliated with Hemoglobin C - Beta-Thalassemia

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hemoglobin C - Beta-Thalassemia

Search GEO for disease gene expression data for Hemoglobin C - Beta-Thalassemia.

Pathways for genes affiliated with Hemoglobin C - Beta-Thalassemia

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Compounds for genes affiliated with Hemoglobin C - Beta-Thalassemia

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GO Terms for genes affiliated with Hemoglobin C - Beta-Thalassemia

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Products for genes affiliated with Hemoglobin C - Beta-Thalassemia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hemoglobin C - Beta-Thalassemia

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet