MCID: HMG022
MIFTS: 15

Hemoglobin C - Beta-Thalassemia malady

Blood diseases, Rare diseases categories

Summaries for Hemoglobin C - Beta-Thalassemia

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MalaCards based summary: Hemoglobin C - Beta-Thalassemia, also known as hbc - beta-thalassemia, is related to thalassemia, and has symptoms including splenomegaly, microcytic anemia and abnormality of the heme biosynthetic pathway. 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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Sources:
47Orphanet, 26ICD10 via Orphanet
See all sources

Hemoglobin C - Beta-Thalassemia, Aliases & Descriptions:

Name: Hemoglobin C - Beta-Thalassemia 47
Hbc - Beta-Thalassemia 47
 
C-Beta-Thalassemia 47


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
hemoglobin c - beta-thalassemia:
Inheritance: Autosomal recessive


External Ids:

Orphanet47 231242
ICD10 via Orphanet26 D58.2

Related Diseases for Hemoglobin C - Beta-Thalassemia

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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 Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1thalassemia10.7

Symptoms for Hemoglobin C - Beta-Thalassemia

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Symptoms:

 47
  • splenomegaly
  • anaemia
  • microcytic anemia
  • hemoglobinosis/hemoglobinopathy

HPO human phenotypes related to Hemoglobin C - Beta-Thalassemia:

id Description Frequency HPO Source Accession
1 splenomegaly hallmark (90%) HP:0001744
2 microcytic anemia hallmark (90%) HP:0001935
3 abnormality of the heme biosynthetic pathway hallmark (90%) HP:0010472

Drugs & Therapeutics for Hemoglobin C - Beta-Thalassemia

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Drug clinical trials:

Search ClinicalTrials for Hemoglobin C - Beta-Thalassemia

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

31
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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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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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
  • Proteins
  • Kits and Assays

Sources for Hemoglobin C - Beta-Thalassemia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet