MCID: HMG012
MIFTS: 30

Hemoglobin Constant Spring malady

Genetic diseases (common), Blood diseases categories
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Summaries for Hemoglobin Constant Spring

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MalaCards based summary: 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 Binding and Uptake of Ligands by Scavenger Receptors. The compounds 23-diphosphoglycerate and hmba have been mentioned in the context of this disorder. Affiliated tissues include testes.

Aliases & Classifications for Hemoglobin Constant Spring

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Hemoglobin Constant Spring, Aliases & Descriptions:

Name: Hemoglobin Constant Spring 20 22


Classifications:

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


Related Diseases for Hemoglobin Constant Spring

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Graphical network of diseases related to Hemoglobin Constant Spring:



Diseases related to hemoglobin constant spring

Symptoms for Hemoglobin Constant Spring

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Drugs & Therapeutics for Hemoglobin Constant Spring

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Drug clinical trials:

Search ClinicalTrials for Hemoglobin Constant Spring

Search NIH Clinical Center for Hemoglobin Constant Spring

Genetic Tests for Hemoglobin Constant Spring

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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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MalaCards organs/tissues related to Hemoglobin Constant Spring:

32
Testes

Animal Models for Hemoglobin Constant Spring or affiliated genes

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Publications for Hemoglobin Constant Spring

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Articles related to Hemoglobin Constant Spring:

(show all 25)
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 constant spring can interfere with glycated hemoglobin measurements by boronate affinity chromatography. (17202499)
2007
7
Anemia and hydrops in a fetus with homozygous hemoglobin constant spring. (17164653)
2006
8
Peripartum pulmonary embolism in a patient with concomitant hemoglobin Newcastle, hemoglobin Constant Spring, and hereditary spherocytosis. (16184591)
2005
9
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
10
Homozygous hemoglobin constant spring with normal electrophoresis. A possible cause for under-diagnosis. (9668571)
1998
11
The unusual pathobiology of hemoglobin constant spring red blood cells. (9057661)
1997
12
Rapid diagnosis of hemoglobin constant spring and hemoglobin E by amplified created restriction sites. (8422476)
1993
13
Asymmetrically primed selective amplification/temperature shift fluorescence polymerase chain reaction to detect the hemoglobin Constant Spring mutation. (1712643)
1991
14
Hemoglobin constant spring in Bangkok: molecular screening by selective enzymatic amplification of the alpha 2-globin gene. (1746536)
1991
15
Selective enzymatic amplification of alpha 2-globin DNA for detection of the hemoglobin Constant Spring mutation. (2713511)
1989
16
Decreased sensitivity of artesunate and chloroquine of Plasmodium falciparum infecting hemoglobin H and/or hemoglobin constant spring erythrocytes. (2643631)
1989
17
Hemoglobin constant spring defined by specific oligonucleotide hybridization and hemoglobin D Punjab (beta 121----Gln) in a Batak Indonesian family. (3177365)
1988
18
Impaired parasite growth and increased susceptibility to phagocytosis of Plasmodium falciparum infected alpha-thalassemia or hemoglobin Constant Spring red blood cells. (3281435)
1988
19
Hemoglobin H disease with hemoglobin Constant Spring in a child of Laotian extraction. (3764529)
1986
20
Hemoglobin Constant Spring in China. (3997543)
1985
21
Hematologic and biosynthetic studies in homozygous hemoglobin Constant Spring. (6725554)
1984
22
Hemoglobin constant spring (HbCS) and CS type hemoglobin H disease: a 3 family survey. (116823)
1979
23
Hemoglobin Constant Spring: hemoglobin synthesis in heterozygous and homozygous states. (1147948)
1975
24
Hemoglobin Constant Spring, and unusual alpha-chain variant involved in the etiology of hemoglobin H disease. (4606609)
1974
25
Hemoglobin Constant Spring (slow-moving hemoglobin X components) and hemoglobin e in Malayan aborigines. (4716657)
1973

Variations for Hemoglobin Constant Spring

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Expression for genes affiliated with Hemoglobin Constant Spring

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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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Compounds for genes affiliated with Hemoglobin Constant Spring

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Sources:
44Novoseek, 50PharmGKB, 11DrugBank, 24HMDB
See all sources

Compounds related to Hemoglobin Constant Spring according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
123-diphosphoglycerate449.4HBA2, HBB
2hmba449.4HBA2, HBB
3hydroxyurea44 50 1111.3HBA2, HBB
4valine449.3HBA2, HBB
5butyrate449.3HBA2, HBB
6methionine449.2HBA2, HBB
7iron44 2410.2HBB, HBA2
8thymidine44 2410.1HBB, HBA2
9oligonucleotide449.1HBA2, HBB
10leucine449.0HBA2, HBB
11adenylate448.8HBA2, HBB

GO Terms for genes affiliated with Hemoglobin Constant Spring

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

idNameGO IDScoreTop Affiliating Genes
1haptoglobin-hemoglobin complexGO:0318389.1HBB, HBA2
2blood microparticleGO:0725629.1HBB, HBA2
3hemoglobin complexGO:0058339.0HBB, HBA2
4endocytic vesicle lumenGO:0716828.8HBB, HBA2

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1oxygen transportGO:0156719.3HBB, HBA2
2hydrogen peroxide catabolic processGO:0427449.2HBA2, HBB
3positive regulation of cell deathGO:0109429.2HBB, HBA2
4bicarbonate transportGO:0157019.1HBB, HBA2
5oxidation-reduction processGO:0551149.1HBB, HBA2
6response to hydrogen peroxideGO:0425429.0HBA2, HBB
7protein heterooligomerizationGO:0512918.8HBB, HBA2

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

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