MCID: HMG015
MIFTS: 30

Hemoglobin S Beta-Thalassemia malady

Blood category

Summaries for Hemoglobin S Beta-Thalassemia

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33MalaCards
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MalaCards: Hemoglobin S Beta-Thalassemia is related to beta thalassemia and thalassemia. An important gene associated with Hemoglobin S Beta-Thalassemia is HBB (hemoglobin, beta), and among its related pathways are Platelet activation, signaling and aggregation and Factors involved in megakaryocyte development and platelet production. The compounds dimethyl sulfate and benzidine have been mentioned in the context of this disorder. Affiliated tissues include liver, spinal cord and bone marrow.

Aliases & Classifications for Hemoglobin S Beta-Thalassemia

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20GeneTests
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Classifications:

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


Aliases & Descriptions:

hemoglobin s beta-thalassemia 20


Related Diseases for Hemoglobin S Beta-Thalassemia

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



Diseases related to hemoglobin s beta-thalassemia

Clinical Features for Hemoglobin S Beta-Thalassemia

Drugs & Therapeutics for Hemoglobin S Beta-Thalassemia

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

Search CenterWatch for Hemoglobin S Beta-Thalassemia

Drug clinical trials:

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Search NIH Clinical Center for Hemoglobin S Beta-Thalassemia

Search CenterWatch for Hemoglobin S Beta-Thalassemia

Genetic Tests for Hemoglobin S Beta-Thalassemia

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20GeneTests
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Genetic tests related to Hemoglobin S Beta-Thalassemia:

id Genetic test Affiliating Genes
1 Hemoglobin S Beta-thalassemia20 HBB

Anatomical Context for Hemoglobin S Beta-Thalassemia

Sources:
33MalaCards
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MalaCards organs/tissues related to Hemoglobin S Beta-Thalassemia:

33
Liver, Spinal cord, Bone marrow, Myeloid, T cells, B cells, Endothelial, Fetal liver

Animal Models for Hemoglobin S Beta-Thalassemia or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Hemoglobin S Beta-Thalassemia

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51PubMed
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Articles related to Hemoglobin S Beta-Thalassemia:

(show top 50)    (show all 70)
idTitleAuthorsYear
1
Detection of beta-thalassemia/hemoglobin E disease in samples which initially were diagnosed as homozygous hemoglobin E. (23865372)
2013
2
Protection against oxidative stress in beta thalassemia/hemoglobin E erythrocytes by inhibitors of glutathione efflux transporters. (23383265)
2013
3
Treatment strategies for hemoglobin E beta-thalassemia. (22631039)
2012
4
Analysis of alpha-hemoglobin-stabilizing protein (AHSP) gene as a genetic modifier to the phenotype of beta-thalassemia in Southern China. (20627634)
2010
5
Transgenic human alpha-hemoglobin stabilizing protein could partially relieve betaIVS-2-654-thalassemia syndrome in model mice. (20063986)
2010
6
The XmnI (G)gamma polymorphism influences hemoglobin F synthesis contrary to BCL11A and HBS1L-MYB SNPs in a cohort of 57 beta-thalassemia intermedia patients. (20472475)
2010
7
Drug metabolizing enzyme CYP1A2 status in pediatric patients with hemoglobin E-beta thalassemia. (20043572)
2009
8
Fetal Hemoglobin Inducers from the Natural World: A Novel Approach for Identification of Drugs for the Treatment of {beta}-Thalassemia and Sickle-Cell Anemia. (18955291)
2009
9
Sensitivity and specificity of mean corpuscular hemoglobin (MCH): for screening alpha-thalassemia-1 trait and beta-thalassemia trait. (19530577)
2009
10
A case of Moyamoya syndrome and hemoglobin E/beta-thalassemia. (19003908)
2009
11
Significance of borderline hemoglobin A2 values in an Italian population with a high prevalence of beta-thalassemia. (18603555)
2008
12
Endothelial dysfunction and oxidant status in pediatric patients with hemoglobin E-beta thalassemia. (17891513)
2008
13
Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia. (18245381)
2008
14
Severe beta(0) thalassemia/hemoglobin E disease caused by de novo 22-base pair duplication in the paternal allele of beta globin gene. (17160997)
2007
15
Hemostatic alterations in splenectomized and non-splenectomized patients with beta-thalassemia/hemoglobin E disease. (17382994)
2007
16
Fatal splenic rupture in a pregnant woman with hemoglobin C/beta-thalassemia and myeloid metaplasia. (16879031)
2006
17
Effects of yisui shengxue granules on expressions of alpha-hemoglobin stabilizing protein and erythroid transcription factor GATA-1 mRNAs in bone marrow of patients with beta-thalassemia]. (16696909)
2006
18
Hemoglobin E-beta-thalassemia: Progress report from the International Study Group. (16339649)
2005
19
Single and combination drug therapy for fetal hemoglobin augmentation in hemoglobin E-beta 0-thalassemia: Considerations for treatment. (16339672)
2005
20
Evaluation of alpha hemoglobin stabilizing protein (AHSP) as a genetic modifier in patients with beta thalassemia. (14715623)
2004
21
Acute subarachnoid hemorrhage associated with platelet storage pool disease and the hemoglobinopathy caused by beta-thalassemia minor. (17903974)
2004
22
In vivo platelet activation and hyperaggregation in hemoglobin E/beta-thalassemia: a consequence of splenectomy. (12731676)
2003
23
Erythroid bone marrow activity and red cell hemoglobinization in iron sufficient beta-thalassemia heterozygotes as reflected by soluble transferrin receptor and reticulocyte hemoglobin in content. Correlation with genotypes and Hb A(2) levels. (12801838)
2003
24
Serum erythropoietin levels in pediatric patients with beta-thalassemia/hemoglobin E. (12465748)
2002
25
A comparative study of Greek nondeletional hereditary persistence of fetal hemoglobin and beta-thalassemia compound heterozygotes. (11976733)
2002
26
Prenatal diagnosis of beta-thalassemia major by high-performance liquid chromatography analysis of hemoglobins in fetal blood samples. (11300346)
2001
27
A novel delta beta fusion gene expresses hemoglobin A (HbA) not Hb Lepore: Senegalese delta(0)beta(+) thalassemia. (11493481)
2001
28
Induction of fetal hemoglobin synthesis with recombinant human erythropoietin in anemic patients with heterozygous beta-thalassemia during pregnancy. (10052837)
1999
29
Fatal fat embolism syndrome in a child with undiagnosed hemoglobin S/beta+ thalassemia: a complication of acute parvovirus B19 infection. (8963632)
1996
30
Pitfalls in newborn hemoglobinopathy screening: failure to detect beta(+)-thalassemia. (7636661)
1995
31
Hemoglobin C/beta+ thalassemia and sarcoidosis. (7485093)
1995
32
Efficacy and safety of oral iron chelating agent deferiprone in beta-thalassemia and hemoglobin E-beta thalassemia. (8635827)
1995
33
Genotype of subjects with borderline hemoglobin A2 levels: implication for beta-thalassemia carrier screening. (8172199)
1994
34
Combined radiotherapeutic and surgical management of a spinal cord compression by extramedullary hematopoiesis in a patient with hemoglobin E beta-thalassemia. (8091937)
1994
35
Hydroxyurea increases fetal hemoglobin in cultured erythroid cells derived from normal individuals and patients with sickle cell anemia or beta-thalassemia. (7680923)
1993
36
Liver tissue injury secondary to iron overload in beta-thalassemia/hemoglobin E disease. (1298983)
1992
37
Increase in spontaneous platelet aggregation in beta-thalassemia/hemoglobin E disease: a consequence of splenectomy. (1298991)
1992
38
Down syndrome complicated by hemoglobin S/beta+ thalassemia. Atypical expression of coexistent disease. (2141809)
1990
39
Sickle cell hemoglobin, beta-thalassemia and G6PD deficiency in tribes of Maharashtra, India. (2129613)
1990
40
A frequent A gamma-hereditary persistence of fetal hemoglobin in northern Sardinia: its molecular basis and hematologic phenotype in heterozygotes and compound heterozygotes with beta-thalassemia. (2452784)
1988
41
Fetal hemoglobin synthesis in erythroid cultures in hereditary persistence of fetal hemoglobin and beta o-thalassemia. (6202341)
1984
42
A molecular study of a family with Greek hereditary persistence of fetal hemoglobin and beta-thalassemia. (6210198)
1984
43
Hb Knossos, beta 27 Ala leads to Ser (B 9): a new hemoglobinopathy presenting as a silent beta-thalassemia. (6664996)
1983
44
Zinc and copper status in hemoglobin H disease and beta-thalassemia/hemoglobin E disease. (6817576)
1982
45
Homozygous hemoglobin E mimics beta-thalassemia minor without anemia or hemolysis: hematologic, functional, and biosynthetic studies of first North American cases. (7395858)
1980
46
Hemoglobin Suan-Dok (alpha 2 109 (G16) Leu replaced by Arg beta 2): an unstable variant associated with alpha-thalassemia. (478977)
1979
47
Biosynthetic studies and gamma-chain composition in the Greek type of hereditary persistence of fetal hemoglobin and in its association with beta-thalassemia. (111454)
1979
48
Double heterozygosis for hemoglobin C-beta thalassemia: description of a Spanish family. Hemoglobin C-beta thalassemia in a Spanish family. (639336)
1978
49
Splenic sequestration and ineffective erythropoiesis in hemoglobin E-beta-thalassemia disease. (724294)
1978
50
CONTROLLER-GENE DISEASES: THE OPERON MODEL AS APPLIED TO BETA-THALASSEMIA, FAMILIAL FETAL HEMOGLOBINEMIA AND THE NORMAL SWITCH FROM THE PRODUCTION OF FETAL HEMOGLOBIN TO THAT OF ADULT HEMOGLOBIN. (14149956)
1964

Genetic Variations for Hemoglobin S Beta-Thalassemia

Expression for genes affiliated with Hemoglobin S 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 S Beta-Thalassemia

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

Pathways for genes affiliated with Hemoglobin S Beta-Thalassemia

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54Reactome
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Pathways related to Hemoglobin S Beta-Thalassemia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
7.6HBG1, HBB, HBE1, HBG2, HBD
27.6HBG2, HBE1, HBB, HBG1, HBD

Compounds for genes affiliated with Hemoglobin S Beta-Thalassemia

Sources:
45Novoseek, 11DrugBank, 24HMDB, 50PharmGKB, 29IUPHAR, 2BitterDB
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Compounds related to Hemoglobin S Beta-Thalassemia according to GeneCards/GeneDecks:

(show all 37)
idCompoundScoreTop Affiliating Genes
1dimethyl sulfate459.8HBB, HBG1
2benzidine459.8HBB, HBG1
3porphobilinogen45 11 2411.8HBB, HBG1
4propionate459.7HBB, HBG1
55-aminolevulinic acid45 2410.7HBG1, HBB
6neomycin459.6HBB, HBG1
7de-oxy459.6HBG2, HBB
8s-nitrosocysteine459.6HBG2, HBB
98-aminoquinoline459.5HBG2, G6PD
10phenazine methosulfate459.5G6PD, HBG2
11no-dimethylhydroxylamine459.5HBG2, G6PD
12primaquine50 45 1111.5G6PD, HBG2
13scopolamine45 29 11 2412.5G6PD, HBG2
14sulfamethoxazole45 50 1111.5HBG2, G6PD
15methylene459.5HBG2, G6PD
16dapsone2 45 50 1112.5G6PD, HBG2
17tert-butylhydroperoxide459.4G6PD, HBG2
18tocopherol459.4G6PD, HBG2
19gssg459.4G6PD, HBG2
20malondialdehyde459.4HBG2, G6PD
21acetaminophen45 2 50 11 2413.3G6PD, HBG2
22azathioprine45 50 2 1112.3HBB, HBG1, G6PD
23glyceraldehyde 3-phosphate459.3G6PD, HBG1, HBB
24uric acid45 2410.3HBG2, G6PD
25polyethylene glycol459.2G6PD, HBG2
2623-diphosphoglycerate459.1G6PD, HBB, HBG2
27vitamin-e459.1HBG2, G6PD
28sodium nitroprusside459.1HBG2, G6PD
29glucose 6-phosphate45 2410.1G6PD, HBB, HBG2
30n-ethylmaleimide45 1110.0G6PD, HBG2
31hydroxyurea45 50 1111.0HBG1, HBB, HBG2
32lactate459.0G6PD, HBB, HBG2
33iron45 249.9HBG2, HBB, HBG1
34h2o2458.8G6PD, HBB, HBG2
35alpha tocopherol458.8HBG2, G6PD
36heme29 11 2410.1HBG2, HBE1, HBB, HBG1, HBD
37oxygen45 249.0G6PD, HBD, HBG1, HBB, HBG2

GO Terms for genes affiliated with Hemoglobin S Beta-Thalassemia

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

idNameGO IDScoreTop Affiliating Genes
1hemoglobin complexGO:0058337.3HBG2, HBE1, HBB, HBG1, HBD
2cytosolGO:0058297.1HBD, HBG1, HBB, HBE1, HBG2, G6PD

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

idNameGO IDScoreTop Affiliating Genes
1blood coagulationGO:0075967.6HBG2, HBE1, HBB, HBG1, HBD

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

idNameGO IDScoreTop Affiliating Genes
1oxygen transporter activityGO:0053447.6HBG2, HBE1, HBB, HBG1, HBD
2iron ion bindingGO:0055067.6HBG2, HBE1, HBB, HBG1, HBD
3oxygen bindingGO:0198257.5HBD, HBG1, HBB, HBE1, HBG2
4heme bindingGO:0200377.3HBD, HBG1, HBB, HBE1, HBG2

Products for genes affiliated with Hemoglobin S Beta-Thalassemia

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  • Proteins
  • Lysates
  • Antibodies

Sources for Hemoglobin S Beta-Thalassemia

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