MCID: HMG012
MIFTS: 21

Hemoglobin Constant Spring malady

Blood diseases category

Summaries for Hemoglobin Constant Spring

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MalaCards: Hemoglobin Constant Spring is related to alpha thalassemia and thalassemia. An important gene associated with Hemoglobin Constant Spring is HBA2 (hemoglobin, alpha 2), and among its related pathways are Selenium Pathway and Malaria. The compounds 23-diphosphoglycerate and hmba have been mentioned in the context of this disorder.

Aliases & Classifications for Hemoglobin Constant Spring

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20GeneTests, 22GTR
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Classifications:

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


Aliases & Descriptions:

hemoglobin constant spring 20 22


Related Diseases for Hemoglobin Constant Spring

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Hemoglobin Constant Spring via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 18)
idRelated DiseaseScoreTop Affiliating Genes
1alpha thalassemia30.7HBB, HBA2
2thalassemia10.5
3alpha chain disease10.3
4hereditary spherocytosis10.3
5pulmonary embolism10.3
6hemochromatosis10.0HBB
7splenomegaly10.0HBA2
8histiocytosis-lymphadenopathy plus syndrome10.0HBA2, HBB
9hemoglobinopathy10.0HBA2, HBB
10beta thalassemia10.0HBA2, HBB
11iron metabolism disease10.0HBB, HBA2
12hydrops fetalis10.0HBB, HBA2
13hemolytic anemia10.0HBA2, HBB
14sickle cell anemia10.0HBA2, HBB
15acute erythroid leukemia10.0HBB, HBA2
16polycythemia10.0HBA2, HBB
17malaria10.0HBA2, HBB
18sickle cell disease10.0HBB, HBA2

Graphical network of diseases related to Hemoglobin Constant Spring:



Diseases related to hemoglobin constant spring

Clinical Features for Hemoglobin Constant Spring

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Drugs & Therapeutics for Hemoglobin Constant Spring

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

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Drug clinical trials:

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Search NIH Clinical Center for Hemoglobin Constant Spring

Search CenterWatch for Hemoglobin Constant Spring

Genetic Tests for Hemoglobin Constant Spring

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20GeneTests, 22GTR
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Genetic tests related to Hemoglobin Constant Spring:

id Genetic test Affiliating Genes
1 Hemoglobin Constant Spring20 22 HBA2

Anatomical Context for Hemoglobin Constant Spring

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Animal Models for Hemoglobin Constant Spring or affiliated genes

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Publications for Hemoglobin Constant Spring

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Genetic Variations for Hemoglobin Constant Spring

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Expression for genes affiliated with Hemoglobin Constant Spring

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

Search GEO for disease gene expression data for Hemoglobin Constant Spring.

Pathways for genes affiliated with Hemoglobin Constant Spring

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37NCBI BioSystems Database, 29KEGG
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Pathways related to Hemoglobin Constant Spring according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1HBB, HBA2
29.1HBB, HBA2
39.1HBB, HBA2

Compounds for genes affiliated with Hemoglobin Constant Spring

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Sources:
44Novoseek, 49PharmGKB, 11DrugBank, 24HMDB
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Compounds related to Hemoglobin Constant Spring according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
123-diphosphoglycerate449.4HBA2, HBB
2hmba449.3HBB, HBA2
3hydroxyurea44 49 1111.3HBB, HBA2
4valine449.3HBA2, HBB
5butyrate449.2HBA2, HBB
6methionine449.2HBB, HBA2
7iron44 2410.1HBA2, HBB
8adenylate449.1HBA2, HBB
9thymidine44 2410.0HBA2, HBB
10leucine448.8HBB, HBA2

GO Terms for genes affiliated with Hemoglobin Constant Spring

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16Gene Ontology
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Cellular components related to Hemoglobin Constant Spring according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endocytic vesicle lumenGO:0716829.1HBB, HBA2
2haptoglobin-hemoglobin complexGO:0318389.0HBB, HBA2
3hemoglobin complexGO:0058338.8HBB, HBA2

Biological processes related to Hemoglobin Constant Spring according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1oxygen transportGO:0156719.2HBB, HBA2
2positive regulation of cell deathGO:0109429.2HBB, HBA2
3hydrogen peroxide catabolic processGO:0427449.1HBA2, HBB
4protein heterooligomerizationGO:0512919.1HBB, HBA2
5bicarbonate transportGO:0157019.0HBB, HBA2
6response to hydrogen peroxideGO:0425428.8HBA2, HBB

Molecular functions related to Hemoglobin Constant Spring according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1haptoglobin bindingGO:0317209.2HBA2, HBB
2oxygen transporter activityGO:0053449.2HBB, HBA2
3peroxidase activityGO:0046019.1HBB, HBA2
4iron ion bindingGO:0055069.1HBA2, HBB
5oxygen bindingGO:0198259.0HBA2, HBB
6heme bindingGO:0200378.8HBB, HBA2

Products for genes affiliated with Hemoglobin Constant Spring

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hemoglobin Constant Spring

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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