MCID: HMG022
MIFTS: 20

Hemoglobin C - Beta-Thalassemia malady

Blood diseases, Rare diseases, Immune diseases categories
Download this MalaCard

Summaries for Hemoglobin C - Beta-Thalassemia

About this section


Fully expand this MalaCard
MalaCards based summary: Hemoglobin C - Beta-Thalassemia, also known as hbc - beta-thalassemia, is related to thalassemia and beta thalassemia, and has symptoms including splenomegaly, anaemia and microcytic anemia. An important gene associated with Hemoglobin C - Beta-Thalassemia is HBB (hemoglobin, beta). The drug sodium phenylbutyrate has been mentioned in the context of this disorder. Affiliated tissues include myeloid.

Aliases & Classifications for Hemoglobin C - Beta-Thalassemia

About this section
Sources:
48Orphanet, 62UMLS, 26ICD10 via Orphanet
See all sources

Hemoglobin C - Beta-Thalassemia, Aliases & Descriptions:

Name: Hemoglobin C - Beta-Thalassemia 48
Hbc - Beta-Thalassemia 48
 
Beta + Thalassaemia 62
C-Beta-Thalassemia 48


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
hemoglobin c - beta-thalassemia:
Inheritance: Autosomal recessive


External Ids:

ICD10 via Orphanet26 D58.2

Related Diseases for Hemoglobin C - Beta-Thalassemia

About this section

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
1thalassemia10.7
2beta thalassemia10.7
3sarcoidosis10.3

Symptoms for Hemoglobin C - Beta-Thalassemia

About this section


Symptoms:

48
  • 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

About this section

Drug clinical trials:

Search ClinicalTrials for Hemoglobin C - Beta-Thalassemia

Search NIH Clinical Center for Hemoglobin C - Beta-Thalassemia

Inferred drug relations via UMLS62/NDF-RT40:

Genetic Tests for Hemoglobin C - Beta-Thalassemia

About this section

Anatomical Context for Hemoglobin C - Beta-Thalassemia

About this section

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

32
Myeloid

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

About this section

Publications for Hemoglobin C - Beta-Thalassemia

About this section

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

About this section

Expression for genes affiliated with Hemoglobin C - Beta-Thalassemia

About this section
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

About this section

Compounds for genes affiliated with Hemoglobin C - Beta-Thalassemia

About this section

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

About this section

Products for genes affiliated with Hemoglobin C - Beta-Thalassemia

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Hemoglobin C - Beta-Thalassemia

About this section
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet