MCID: HMG021
MIFTS: 29

Hemoglobin E - Beta-Thalassemia malady

Blood diseases category

Summaries for Hemoglobin E - Beta-Thalassemia

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MalaCards: Hemoglobin E - Beta-Thalassemia, also known as hemoglobin e/beta thalassemia disease, is related to alpha thalassemia and hypertension, and has symptoms including immunodeficiency/increased susceptibility to infections/recurrent infections, anaemia and hemoglobinosis/hemoglobinopathy. An important gene associated with Hemoglobin E - Beta-Thalassemia is HBB (hemoglobin, beta), and among its related pathways are Factors involved in megakaryocyte development and platelet production and Platelet activation, signaling and aggregation. The compounds hydroxyurea and sertraline have been mentioned in the context of this disorder.

Aliases & Classifications for Hemoglobin E - Beta-Thalassemia

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48Orphanet, 60UMLS, 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 e - beta-thalassemia:
Inheritance: Autosomal recessive


Aliases & Descriptions:

hemoglobin e - beta-thalassemia 48
hemoglobin e/beta thalassemia disease 60
hbe - beta-thalassemia 48
e-beta-thalassemia 48


External Ids:

ICD10 via Orphanet26 D58.2
SNOMED-CT via Orphanet57 234392002
UMLS via Orphanet61 C0472777

Related Diseases for Hemoglobin E - Beta-Thalassemia

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Hemoglobin E - Beta-Thalassemia:



Diseases related to hemoglobin e - beta-thalassemia

Clinical Features for Hemoglobin E - Beta-Thalassemia

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48Orphanet
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Symptoms:

48
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • anaemia
  • hemoglobinosis/hemoglobinopathy
  • hyperferritinemia/iron overload

Drugs & Therapeutics for Hemoglobin E - Beta-Thalassemia

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Hemoglobin E - Beta-Thalassemia

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Anatomical Context for Hemoglobin E - Beta-Thalassemia

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

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Publications for Hemoglobin E - Beta-Thalassemia

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Genetic Variations for Hemoglobin E - Beta-Thalassemia

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Expression for genes affiliated with Hemoglobin E - Beta-Thalassemia

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hemoglobin E - Beta-Thalassemia

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

Pathways for genes affiliated with Hemoglobin E - Beta-Thalassemia

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53Reactome
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Pathways related to Hemoglobin E - Beta-Thalassemia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3HBE1, HBB
2
Hide members
8.8HBE1, HBB, PPBP

Compounds for genes affiliated with Hemoglobin E - Beta-Thalassemia

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Sources:
44Novoseek, 49PharmGKB, 11DrugBank, 28IUPHAR, 24HMDB, 2BitterDB
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Compounds related to Hemoglobin E - Beta-Thalassemia according to GeneCards/GeneDecks:

(show all 13)
idCompoundScoreTop Affiliating Genes
1hydroxyurea44 49 1111.6PPBP, HBB
2sertraline44 28 49 11 2413.4CYP1A2, PPBP
3ticlopidine44 1110.4CYP1A2, PPBP
4clopidogrel49 44 11 2412.4PPBP, CYP1A2
5dmso449.3HBB, PPBP
6warfarin44 49 11 2412.3CYP1A2, PPBP
7propranolol44 28 49 11 2413.3CYP1A2, PPBP
8verapamil44 49 28 11 2413.2CYP1A2, PPBP
9epinephrine44 11 2411.1CYP1A2, PPBP
10chloramphenicol44 2 1111.0HBE1, HBB
11heme28 11 2410.8CYP1A2, HBE1, HBB
12nitric oxide44 11 2410.7CYP1A2, HBB, PPBP
13oxygen44 249.6PPBP, HBB, CYP1A2

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

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16Gene Ontology
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Cellular components related to Hemoglobin E - Beta-Thalassemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1hemoglobin complexGO:0058339.3HBE1, HBB

Biological processes related to Hemoglobin E - Beta-Thalassemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1blood coagulationGO:0075968.8HBE1, HBB, PPBP

Molecular functions related to Hemoglobin E - Beta-Thalassemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1oxygen bindingGO:0198259.3HBB, HBE1
2oxygen transporter activityGO:0053449.0HBE1, HBB
3heme bindingGO:0200378.5HBB, HBE1, CYP1A2
4iron ion bindingGO:0055068.4CYP1A2, HBE1, HBB

Products for genes affiliated with Hemoglobin E - Beta-Thalassemia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hemoglobin E - Beta-Thalassemia

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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