MCID: HMG012
MIFTS: 24

Hemoglobin Constant Spring malady

Blood category

Summaries for Hemoglobin Constant Spring

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33MalaCards
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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


Aliases & Descriptions:

hemoglobin constant spring 20 22


Related Diseases for Hemoglobin Constant Spring

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Hemoglobin Constant Spring:



Diseases related to hemoglobin constant spring

Clinical Features for Hemoglobin Constant Spring

Drugs & Therapeutics for Hemoglobin Constant Spring

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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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

Animal Models for Hemoglobin Constant Spring or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Hemoglobin Constant Spring

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51PubMed
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Articles related to Hemoglobin Constant Spring:

(show all 26)
idTitleAuthorsYear
1
Hemoglobin Constant Spring is markedly high in women of an ethnic minority group in Vietnam: A community-based survey and hematologic features. (24368026)
2013
2
Quantification of hemoglobin Constant Spring in heterozygote and homozygote by a capillary electrophoresis method. (21883970)
2012
3
Rapid identification of heterozygous and homozygous hemoglobin constant spring by SYTO9 with a high resolution melting analysis. (22997986)
2012
4
Molecular confirmatory testing of hemoglobin Constant Spring by real-time polymerase chain reaction SYBR Green1 with high-resolution melting analysis. (20214676)
2010
5
Application of an expanded multiplex genotyping assay for the simultaneous detection of Hemoglobin Constant Spring and common deletional alpha-thalassemia mutations. (19919622)
2010
6
Hemoglobin H-constant spring in North America: an alpha thalassemia with frequent complications. (19787795)
2009
7
Hemoglobin constant spring can interfere with glycated hemoglobin measurements by boronate affinity chromatography. (17202499)
2007
8
Anemia and hydrops in a fetus with homozygous hemoglobin constant spring. (17164653)
2006
9
Peripartum pulmonary embolism in a patient with concomitant hemoglobin Newcastle, hemoglobin Constant Spring, and hereditary spherocytosis. (16184591)
2005
10
Atypical hemoglobin H disease in a Thai patient resulting from a combination of alpha-thalassemia 1 and hemoglobin Constant Spring with hemoglobin J Bangkok heterozygosity. (11422410)
2001
11
Homozygous hemoglobin constant spring with normal electrophoresis. A possible cause for under-diagnosis. (9668571)
1998
12
The unusual pathobiology of hemoglobin constant spring red blood cells. (9057661)
1997
13
Rapid diagnosis of hemoglobin constant spring and hemoglobin E by amplified created restriction sites. (8422476)
1993
14
Asymmetrically primed selective amplification/temperature shift fluorescence polymerase chain reaction to detect the hemoglobin Constant Spring mutation. (1712643)
1991
15
Hemoglobin constant spring in Bangkok: molecular screening by selective enzymatic amplification of the alpha 2-globin gene. (1746536)
1991
16
Selective enzymatic amplification of alpha 2-globin DNA for detection of the hemoglobin Constant Spring mutation. (2713511)
1989
17
Decreased sensitivity of artesunate and chloroquine of Plasmodium falciparum infecting hemoglobin H and/or hemoglobin constant spring erythrocytes. (2643631)
1989
18
Hemoglobin constant spring defined by specific oligonucleotide hybridization and hemoglobin D Punjab (beta 121----Gln) in a Batak Indonesian family. (3177365)
1988
19
Impaired parasite growth and increased susceptibility to phagocytosis of Plasmodium falciparum infected alpha-thalassemia or hemoglobin Constant Spring red blood cells. (3281435)
1988
20
Hemoglobin H disease with hemoglobin Constant Spring in a child of Laotian extraction. (3764529)
1986
21
Hemoglobin Constant Spring in China. (3997543)
1985
22
Hematologic and biosynthetic studies in homozygous hemoglobin Constant Spring. (6725554)
1984
23
Hemoglobin constant spring (HbCS) and CS type hemoglobin H disease: a 3 family survey. (116823)
1979
24
Hemoglobin Constant Spring: hemoglobin synthesis in heterozygous and homozygous states. (1147948)
1975
25
Hemoglobin Constant Spring, and unusual alpha-chain variant involved in the etiology of hemoglobin H disease. (4606609)
1974
26
Hemoglobin Constant Spring (slow-moving hemoglobin X components) and hemoglobin e in Malayan aborigines. (4716657)
1973

Genetic Variations for Hemoglobin Constant Spring

Expression for genes affiliated with Hemoglobin Constant Spring

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

Sources:
38NCBI BioSystems Database, 30KEGG
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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

Sources:
45Novoseek, 50PharmGKB, 11DrugBank, 24HMDB
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Compounds related to Hemoglobin Constant Spring according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
123-diphosphoglycerate459.4HBB, HBA2
2hmba459.3HBB, HBA2
3hydroxyurea45 50 1111.3HBA2, HBB
4valine459.3HBB, HBA2
5butyrate459.2HBB, HBA2
6methionine459.2HBA2, HBB
7iron45 2410.1HBB, HBA2
8adenylate459.1HBB, HBA2
9thymidine45 2410.0HBB, HBA2
10leucine458.8HBB, HBA2

GO Terms for genes affiliated with Hemoglobin Constant Spring

Sources:
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:0427449.1HBB, HBA2
4protein heterooligomerizationGO:0512919.1HBB, HBA2
5bicarbonate transportGO:0157019.0HBA2, HBB
6response to hydrogen peroxideGO:0425428.8HBB, HBA2

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

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

Products for genes affiliated with Hemoglobin Constant Spring

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hemoglobin Constant Spring

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet