MCID: BTT002
MIFTS: 77

Beta Thalassemia malady

Genetic diseases, Rare diseases, Blood diseases, Immune diseases, Nephrological diseases, Neuronal diseases, Mental diseases categories
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Summaries for Beta Thalassemia

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21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 Beta-thalassemia is a blood disorder that reduces the production of hemoglobin. without sufficient hemoglobin, red blood cells do not develop normally, causing a shortage of mature red blood cells, leading to anemia and other health problems. severe beta-thalassemia is called “thalassemia major” or “cooley’s anemia.” thalassemia intermedia is the less severe form. mutations in the hbb gene cause beta-thalassemia. this condition is usually inherited in an autosomal recessive fashion, which means people with beta thalassemia have mutations in both of their hbb genes. people who have only one hbb mutation may have no symptoms or develop mild symptoms; these individuals are said to have thalassemia minor. last updated: 7/7/2011

MalaCards: Beta Thalassemia, also known as beta-thalassemia, is related to hereditary persistence of fetal hemoglobin and sickle cell anemia. An important gene associated with Beta Thalassemia is HBB (hemoglobin, beta), and among its related pathways are Binding and Uptake of Ligands by Scavenger Receptors and African trypanosomiasis. The drug sodium phenylbutyrate and the compounds iron dextran and 5-aminolevulinic acid have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and testes, and related mouse phenotypes are integument and liver/biliary system.

Genetics Home Reference:21 Beta thalassemia is a blood disorder that reduces the production of hemoglobin. Hemoglobin is the iron-containing protein in red blood cells that carries oxygen to cells throughout the body.

Wikipedia:65 Beta thalassemias (? thalassemias) are a group of inherited blood disorders caused by reduced or absent... more...

Description from OMIM:47 603902

GeneReviews summary for b-thal

Aliases & Classifications for Beta Thalassemia

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8Disease Ontology, 65Wikipedia, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 45Novoseek, 62UMLS, 58SNOMED-CT, 35MeSH, 40NCIt, 47OMIM
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Classifications:



Aliases & Descriptions:

beta thalassemia 8 21 62
beta-thalassemia 65 19 43 20 22 45
thalassemia intermedia 65 43 20 22 62
mediterranean anemia 65 19 43 21
thalassemia major 65 43 20 45
cooley's anemia 65 19 43 62
beta thalassemia intermedia 43 22 62
erythroblastic anemia 65 43 21
beta thalassemia minor 43 22
beta thalassemia major 43 22
thalassemia minor 43 20
microcytemia, beta type 21
thalassemia, beta type 21
intermedia thalassemia 45


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Disease Ontology8 DOID:12241
MeSH35 D017086
NCIt40 C34375
OMIM47 603902

Related Diseases for Beta Thalassemia

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17GeneCards, 18GeneDecks
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Diseases in the Alpha Thalassemia family:

beta thalassemia Thalassemia
Delta-Beta Thalassemia Thalassemia, Delta-
Thalassemia Due to Hb Lepore

Diseases related to Beta Thalassemia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 232)
idRelated DiseaseScoreTop Affiliating Genes
1hereditary persistence of fetal hemoglobin31.3HBBP1, HBB
2sickle cell anemia31.0HBB, HBG1
3iron deficiency anemia31.0HFE, EPO, TFRC
4alpha thalassemia31.0HBG1, HBA1, UGT1A1, HBA2, HBB, HFE
5hemoglobinopathy30.9BCL11A
6hepatitis30.8HFE, CYP2E1, CYP1A2
7hemochromatosis30.8HFE, TFRC
8deficiency anemia30.7AHSP, HBG1, HBA1, HBA2, HBB, EPO
9hepatitis c30.7HFE, CYP2E1, CYP1A2
10sickle cell disease30.7HBB, HBA2, HBG1, UGT1A1, TFRC, EPO
11siderosis30.7HFE, TFRC
12hydrops fetalis30.5HBA2, HBB
13osteoporosis30.5IGF1, ESR1, CYP3A4
14hemosiderosis30.5EPO, HFE
15thalassemia-beta, dominant inclusion-body30.4HBB, HBBP1
16hemoglobin h disease, nondeletional30.4HBA2, HBA1
17microcytic anemia30.4TFRC, HBA2, EPO
18porphyria cutanea tarda30.4HFE, TFRC, CYP1A2
19hemolytic anemia30.3EPO, HBA2, HBB, HFE, TFRC, UGT1A1
20insulin resistance30.3CYP1A2, CYP2E1, HFE, IGF1
21thalassemias, beta-30.2HBBP1, HBB
22hereditary spherocytosis30.2TFRC, UGT1A1, HFE
23atherosclerosis30.2CYP1A2, GSTT1, AHSP, SOD1, IGF1
24diabetic nephropathy30.1EPO, HFE, TFRC
25malaria30.1HBB, GSTM1, TFRC, HBA2
26bronchitis30.1EPO, CYP2E1, HFE, TFRC
27cystic fibrosis30.1CYP1A2, HBB, GSTM1, TRIM22
28hepatocellular carcinoma30.1UGT1A1, CYP1A2, CYP2E1, HFE, HBB, CYP3A4
29adenoma29.9CYP1A2, GSTT1, IGF1, GSTM1, HFE, TFRC
30diabetes mellitus29.8SOD1, HFE, IGF1, CYP2E1, CYP3A4, HBA1
31leukemia29.8TFRC, GSTT1, GSTM1, HFE, EPO, HBB
32thalassemia11.5
33hemoglobin e - beta-thalassemia10.8
34hemoglobin e disease10.7
35hemoglobin sickle-beta thalassemia10.6
36delta-beta thalassemia10.6
37thalassemia, hispanic gamma-delta-beta10.5
38hemoglobin c - beta-thalassemia10.5
39hypoparathyroidism10.5
40sickle cell - beta-thalassemia disease10.5
41hemoglobin s beta-thalassemia10.4
42splenic sequestration10.4
43hemoglobin lepore - beta-thalassemia10.3
44pulmonary function10.3
45pseudoxanthoma elasticum10.3
46angioid streaks10.3
47hypertension10.3
48thyroiditis10.3
49sickle delta beta thalassemia10.3
50hepatitis c virus10.3

Graphical network of the top 20 diseases related to Beta Thalassemia:



Diseases related to beta thalassemia

Symptoms for Beta Thalassemia

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47OMIM
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Clinical features from OMIM:

603902

Drugs & Therapeutics for Beta Thalassemia

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Beta Thalassemia

Search NIH Clinical Center for Beta Thalassemia

Inferred drug relations via UMLS62/NDF-RT41:

Genetic Tests for Beta Thalassemia

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20GeneTests, 22GTR
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Genetic tests related to Beta Thalassemia:

id Genetic test Affiliating Genes
1 Beta-Thalassemia20 HBB
2 Thalassemia Major20
3 Thalassemia Intermedia20 22
4 Thalassemia Minor20
5 Beta Thalassemia22
6 Beta Thalassemia Minor22
7 Beta Thalassemia Major22
8 Beta Thalassemia Intermedia22

Anatomical Context for Beta Thalassemia

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33MalaCards
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MalaCards organs/tissues related to Beta Thalassemia:

33
Bone, Bone marrow, Testes, Liver, Thyroid, Pituitary, Endothelial, Skin, Myeloid, Whole blood, Breast, Brain, Kidney, Colon, Spinal cord

Animal Models for Beta Thalassemia or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Beta Thalassemia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107717.8EPO, ESR1, HBA2, AHSP, IGF1, TFRC
2MP:00053707.6CYP1A2, CYP2E1, HBB, SOD1, ESR1, HFE
3MP:00036317.2TFRC, IGF1, SOD1, ESR1, BCL11A, HFE
4MP:00053857.2IGF1, EPO, CYP1A2, CYP2E1, HBB, SOD1
5MP:00053877.1IGF1, CYP1A2, AHSP, TFRC, HFE, BCL11A
6MP:00053976.8HFE, BCL11A, EPO, SOD1, IGF1, HBB
7MP:00053846.8BCL11A, EPO, ESR1, SOD1, AHSP, IGF1
8MP:00107686.2CYP1A2, TFRC, HFE, BCL11A, EPO, SOD1
9MP:00053766.0GSTT1, GSTM1, HFE, TFRC, BCL11A, EPO

Publications for Beta Thalassemia

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52PubMed
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Articles related to Beta Thalassemia:

(show top 50)    (show all 696)
idTitleAuthorsYear
1
Thyroid function status and echocardiographic abnormalities in patients with Beta thalassemia major in bahrain. (23400522)
2013
2
Beta-globin Gene Mutations in Turkish Children with Beta-Thalassemia: Results from a Single Center Study. (24106605)
2013
3
Quality of life among children with beta-thalassemia major treated in Western Saudi Arabia. (24343469)
2013
4
Nephrolithiasis in beta thalassemia major patients treated with deferasirox: an advent or an adverse event? A single Greek center experience. (22933235)
2013
5
A novel epsilon gamma delta beta thalassemia presenting with pregnancy complications and severe neonatal anemia. (23206178)
2013
6
Co-inheritance of HbD (Iran)/Beta Thalassemia IVS1-5 (GA >A C) Trait in a Punjabi Lady with Diabetes. (23543793)
2012
7
Absence of JAK2V617F mutation in patients with beta-thalassemia major and thrombocytosis due to splenectomy. (22203487)
2012
8
Bone marrow mesenchymal stem cells in patients with beta thalassemia major: molecular analysis with attenuated total reflection-Fourier transform infrared spectroscopy study as a novel method. (22214206)
2012
9
Exercise Stress Echocardiography with Tissue Doppler Imaging (TDI) Detects Early Systolic Dysfunction in Beta-Thalassemia Major Patients without Cardiac Iron Overload. (22811786)
2012
10
Characterization of beta-thalassemia mutations in patients from the state of Rio Grande do Norte, Brazil. (21931514)
2011
11
Reproductive hormones and hypothalamic-pituitary-ovarian axis in female patients with homozygous beta-thalassemia major. (20445415)
2010
12
Iron chelation therapy in Upper Egyptian transfusion-dependent pediatric homozygous beta-thalassemia major: impact on serum L-carnitine/free fatty acids, osteoprotegerin/the soluble receptor activator of nuclear factor-kappabeta ligand systems, and bone mineral density. (20445416)
2010
13
Markedly low hemoglobin A1c in a patient with an unusual presentation of beta-thalassemia minor. (19703808)
2010
14
Hyperchloremic metabolic acidosis due to deferasirox in a patient with beta thalassemia major. (19934389)
2010
15
Decreased nucleoside transport and hENT1 transporter expression in beta-thalassemia major. (19349719)
2009
16
Molecular, hematological and clinical aspects of thalassemia major and thalassemia intermedia associated with Hb E-beta-thalassemia in Northeast Thailand. (18951049)
2009
17
Prenatal diagnosis of sickle cell anemia and beta-thalassemia in southern Turkey. (19065329)
2008
18
Moyamoya disease associated with hemoglobin Fairfax and beta-thalassemia. (18206795)
2008
19
Coinheritance of the different copy numbers of alpha-globin gene modifies severity of beta-thalassemia/Hb E disease. (18026953)
2008
20
Discrimination indices have no predictive value in differential diagnosis of iron deficiency anemia and beta-thalassemia trait. (18371062)
2008
21
Circulating osteoprotegerin and receptor activator of NF-kappaB ligand system in patients with beta-thalassemia major. (17187195)
2007
22
HFE gene mutations in Tunisian major beta-Thalassemia and iron overload]. (17303462)
2006
23
Prevalence of -alpha(3.7) and alpha alpha alpha(anti3.7) alleles in sickle cell trait and beta-thalassemia patients in Mexico. (16466950)
2006
24
Prevalence of growth and puberty failure with respect to growth hormone and gonadotropins secretion in beta-thalassemia major. (17061604)
2006
25
Damage of iron metabolism and oxidoreduction process in children with beta-thalassemia]. (16905850)
2006
26
Role of alpha-hemoglobin-stabilizing protein in normal erythropoiesis and beta-thalassemia. (16339656)
2005
27
Prevalence of the H63D mutation of the HFE in north India: its presence does not cause iron overload in beta thalassemia trait. (15777346)
2005
28
Heterozygous beta-thalassemia and homozygous H63D hemochromatosis in a child: an 18-year follow-up. (15805002)
2005
29
High frequency of deletional alpha-thalassemia in beta-thalassemia trait: implications for genetic counseling. (15224373)
2004
30
The degree of phenotypic correction of murine beta -thalassemia intermedia following lentiviral-mediated transfer of a human gamma-globin gene is influenced by chromosomal position effects and vector copy number. (12411297)
2003
31
Hypoparathyroidism with extensive intracerebral calcification in patients with beta-thalassemia major. (12948301)
2003
32
Spectrum of beta thalassemia mutations and HbF levels in the heterozygous Moroccan population. (12827652)
2003
33
Soluble transferrin receptor and immature reticulocytes are not useful for distinguishing iron-deficiency anemia from heterozygous beta-thalassemia. (12870058)
2003
34
MRI of the liver and the pituitary gland in patients with beta-thalassemia major: does hepatic siderosis predict pituitary iron deposition? (12541105)
2003
35
Reliable detection of beta-thalassemia and G6PD mutations by a DNA microarray. (12406995)
2002
36
Recombinant human erythropoietin therapy in a transfusion-dependent beta-thalassemia major patient. (11563599)
2001
37
Premarital screening of beta-thalassemia trait in the province of Denizli, Turkey. (11111119)
2000
38
Molecular diagnosis of patients with beta-thalassemia major in central Taiwan by amplified created restriction site analysis. (9852674)
1998
39
Recombinant erythropoietin trial in children with transfusion-dependent homozygous beta-thalassemia. (9401497)
1997
40
Plasma interleukin-3 (IL-3) and IL-7 concentrations in children with homozygous beta-thalassemia. (9476461)
1997
41
Role of alternatively spliced beta E-globin mRNA on clinical severity of beta-thalassemia/hemoglobin E disease. (8629114)
1995
42
Treatment of beta-thalassemia with hydroxyurea (HU)--effects of HU on globin gene expression. (7865126)
1994
43
Liver tissue injury secondary to iron overload in beta-thalassemia/hemoglobin E disease. (1298983)
1992
44
Hemoglobin Dhonburi alpha 2 beta 2 126 (H4) Val-->Gly: a new unstable beta variant producing a beta-thalassemia intermedia phenotype in association with beta zero-thalassemia. (2399911)
1990
45
Oropharyngeal colonization with aerobic bacteria in beta-thalassemia/hemoglobin E disease. (3318952)
1987
46
Masked phenytoin-induced megaloblastic anemia in beta-thalassemia minor. (3113162)
1987
47
beta Thalassemia associated with increased HB F production. Evidence for the existence of a heterocellular hereditary persistence of fetal hemoglobin (HPFH) determinant linked to beta thalassemia in a southern Italian population. (6162827)
1981
48
Homozygous hemoglobin E mimics beta-thalassemia minor without anemia or hemolysis: hematologic, functional, and biosynthetic studies of first North American cases. (7395858)
1980
49
Sea-blue histiocytosis and beta-thalassemia in the same family. (1137725)
1975
50
Pathology of abnormal hemoglobin diseases seen in Thailand. I. Pathology of beta-thalassemia hemoglobin E disease. (4225872)
1967

Variations for Beta Thalassemia

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Beta Thalassemia:

1 (show all 19)
id Gene Name Type Significance SNP ID Assembly Location
1HBBNM_000518.4(HBB): c.92G> C (p.Arg31Thr)single nucleotide variantPathogenicrs33960103GRCh37Chr 11, 5248160: 5248160
2HBBNM_000518.4(HBB): c.59A> G (p.Asn20Ser)single nucleotide variantPathogenic, otherrs33972047GRCh37Chr 11, 5248193: 5248193
3HBBNM_000518.4(HBB): c.25_26delAA (p.Lys9Valfs)deletionPathogenicrs35497102GRCh37Chr 11, 5248226: 5248227
4HBBNM_000518.4(HBB): c.92+5G> Csingle nucleotide variantPathogenicrs33915217GRCh37Chr 11, 5248155: 5248155
5HBBNM_000518.4(HBB): c.92+5G> Asingle nucleotide variantPathogenicrs33915217GRCh37Chr 11, 5248155: 5248155
6HBBNM_000518.4(HBB): c.92+6T> Csingle nucleotide variantPathogenicrs35724775GRCh37Chr 11, 5248154: 5248154
7HBBNM_000518.4(HBB): c.93-21G> Asingle nucleotide variantPathogenicrs35004220GRCh37Chr 11, 5248050: 5248050
8HBBNM_000518.4(HBB): c.316-106C> Gsingle nucleotide variantPathogenicrs34690599GRCh37Chr 11, 5247062: 5247062
9HBBNM_000518.4(HBB): c.316-197C> Tsingle nucleotide variantPathogenicrs34451549GRCh37Chr 11, 5247153: 5247153
10HBBNM_000518.4(HBB): c.75T> A (p.Gly25=)single nucleotide variantPathogenicrs33951465GRCh37Chr 11, 5248177: 5248177
11HBBNM_000518.4(HBB): c.-50-88C> Tsingle nucleotide variantPathogenicrs33944208GRCh37Chr 11, 5248389: 5248389
12HBBNM_000518.4(HBB): c.-80T> Asingle nucleotide variantPathogenicrs33980857GRCh37Chr 11, 5248331: 5248331
13HBBNM_000518.4(HBB): c.-50-29A> Gsingle nucleotide variantPathogenicrs34598529GRCh37Chr 11, 5248330: 5248330
14HBBNM_000518.4(HBB): c.-140C> Tsingle nucleotide variantPathogenic, Uncertain significancers34999973GRCh37Chr 11, 5248391: 5248391
15HBBNM_000518.4(HBB): c.116_117delCC (p.Gln40Glufs)deletionPathogenicrs267607298GRCh37Chr 11, 5248005: 5248006
16HBBNM_000518.4(HBB): c.27dupG (p.Ser10Valfs*14)duplicationPathogenicrs35699606GRCh37Chr 11, 5248224: 5248225
17HBBNM_000518.4(HBB): c.2T> C (p.Met1Thr)single nucleotide variantLikely pathogenic, Pathogenicrs33941849GRCh37Chr 11, 5248250: 5248250
18HBBNM_000518.4(HBB): c.316-14T> Gsingle nucleotide variantPathogenicrs35703285GRCh37Chr 11, 5246970: 5246970
19HBBNM_000518.4(HBB): c.92+2T> Csingle nucleotide variantPathogenicrs33956879GRCh37Chr 11, 5248158: 5248158

Expression for genes affiliated with Beta Thalassemia

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Beta Thalassemia

Search GEO for disease gene expression data for Beta Thalassemia.

Pathways for genes affiliated with Beta Thalassemia

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50PathCards, 55Reactome, 30KEGG, 51PharmGKB, 38NCBI BioSystems Database, 60Thomson Reuters
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Pathways related to Beta Thalassemia according to GeneCards/GeneDecks:

(show all 28)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.8HBA1, HBA2, HBB
29.8HBB, HBA2, HBA1
3
Show member pathways
9.8HBB, HBA2, HBA1
49.8HBA1, HBA2, HBB
59.7CYP3A4, UGT1A1
6
Show member pathways
Codeine and morphine metabolism38
9.7CYP3A4, UGT1A1
7
Show member pathways
9.7CYP3A4, CYP1A2
89.6CYP3A4, CYP2E1
99.6TFRC, IGF1, EPO
10
Show member pathways
9.4CYP3A4, CYP1A2, UGT1A1
119.4UGT1A1, CYP3A4, GSTT1
129.3CYP1A2, CYP2E1, CYP3A4
13
Show member pathways
Retinol metabolism60
9.3CYP3A4, CYP2E1, CYP1A2
14
Show member pathways
9.3CYP3A4, CYP2E1, CYP1A2
15
Show member pathways
9.3CYP3A4, CYP2E1, CYP1A2
169.3CYP3A4, CYP2E1, CYP1A2
17
Show member pathways
9.3CYP1A2, CYP2E1, CYP3A4
18
Show member pathways
9.3CYP1A2, CYP2E1, CYP3A4
19
Show member pathways
thioredoxin pathway38
9.2HBA1, HBA2, HBB, SOD1
209.1GSTT1, GSTM1, SOD1
219.0UGT1A1, CYP1A2, CYP2E1, CYP3A4
229.0UGT1A1, CYP1A2, CYP2E1, CYP3A4
23
Show member pathways
Glucocorticoid andamp; Mineralcorticoid Metabolism38
9.0UGT1A1, CYP1A2, CYP2E1, CYP3A4
24
Show member pathways
9.0GSTM1, CYP3A4, CYP1A2, UGT1A1
258.5GSTT1, GSTM1, CYP3A4, CYP2E1, CYP1A2
26
Show member pathways
8.3UGT1A1, CYP1A2, CYP2E1, CYP3A4, GSTM1, GSTT1
27
Show member pathways
8.3UGT1A1, CYP1A2, CYP2E1, CYP3A4, GSTM1, GSTT1
28
Show member pathways
7.6UGT1A1, CYP1A2, CYP2E1, CYP3A4, HBA1, HBA2

Compounds for genes affiliated with Beta Thalassemia

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45Novoseek, 11DrugBank, 24HMDB, 51PharmGKB, 29IUPHAR, 61Tocris Bioscience
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Compounds related to Beta Thalassemia according to GeneCards/GeneDecks:

(show top 50)    (show all 406)
idCompoundScoreTop Affiliating Genes
1iron dextran45 1111.0TFRC, HBA1, HBB, EPO
25-aminolevulinic acid45 2410.9TFRC, HFE, HBB, HBG1
3trans,trans-muconic acid459.7CYP2E1, GSTM1, GSTT1
4hydroxyurea45 51 1111.6TFRC, UGT1A1, HBG1, HBB, EPO, HBA2
5s-phenylmercapturic acid459.6GSTM1, CYP2E1, GSTT1
6s-nitrosocysteine459.4AHSP, HBB, SOD1
7rsai459.4HFE, GSTT1, CYP2E1, GSTM1
8flunitrazepam29 45 1111.4CYP3A4, UGT1A1, CYP1A2, CYP2E1
9ondansetron51 45 24 1112.4EPO, CYP3A4, CYP2E1, CYP1A2
10beta-naphthoflavone45 1110.3CYP3A4, CYP2E1, UGT1A1, CYP1A2
11hydrocarbons459.3GSTT1, TRIM22, GSTM1, CYP1A2, UGT1A1
12pyrazinamide45 51 1111.3GSTM1, GSTT1, CYP1A2, CYP3A4
136beta-hydroxycortisol459.3CYP3A4, CYP2E1, CYP1A2
14p-nitrophenol45 1110.3CYP3A4, CYP1A2, CYP2E1, UGT1A1
15debrisoquine45 5110.3CYP2E1, CYP1A2, CYP3A4, GSTM1
16aflatoxin b145 2410.3GSTT1, GSTM1, CYP3A4, CYP1A2
17carvedilol45 51 29 1112.2CYP1A2, CYP3A4, CYP2E1, UGT1A1
18theophylline45 29 24 1112.2CYP2E1, EPO, TFRC, CYP1A2, CYP3A4
19uridine diphosphate459.2CYP3A4, CYP1A2, CYP2E1, UGT1A1
20valproic acid45 51 24 1112.1UGT1A1, CYP1A2, CYP2E1, CYP3A4, HBG1
21benzidine459.1TFRC, UGT1A1, HBG1, HBB, EPO, GSTM1
22cytarabine45 51 1111.1CYP3A4, CYP2E1, TFRC, HBG1, EPO
23benzyl alcohol45 1110.1CYP1A2, CYP2E1, SOD1, CYP3A4
24selegiline45 1110.0SOD1, CYP2E1, CYP1A2, CYP3A4
25ticagrelor51 1110.0CYP3A4, CYP2E1, CYP1A2
26phenobarbital45 29 51 1112.0CYP1A2, GSTM1, CYP3A4, CYP2E1, UGT1A1
27isoniazid45 51 1111.0CYP3A4, CYP1A2, CYP2E1, GSTM1, GSTT1
28vitamin d459.0TRIM22, GSTM1, IGF1, EPO, TFRC
29propofol45 51 1110.9CYP3A4, CYP2E1, CYP1A2, UGT1A1
30menadione45 24 1110.9CYP2E1, TFRC, SOD1, CYP1A2, IGF1
31clomifene51 119.9ESR1, CYP3A4, CYP1A2, CYP2E1
32diethyl dithiocarbamate458.9CYP3A4, EPO, CYP1A2, SOD1, CYP2E1
33toremifene45 119.8CYP1A2, CYP2E1, CYP3A4, ESR1
34heme29 24 1110.8HBA1, HBG1, CYP1A2, CYP2E1, CYP3A4, HBB
35rifampin51 119.7GSTT1, UGT1A1, CYP1A2, CYP2E1, CYP3A4, GSTM1
36epoxide458.7GSTT1, UGT1A1, CYP1A2, CYP2E1, CYP3A4, GSTM1
37oxaliplatin45 51 1110.6SOD1, CYP2E1, CYP1A2, UGT1A1, GSTT1, GSTM1
38dopamine45 29 24 1111.6IGF1, TFRC, CYP1A2, TRIM22, GSTM1, AHSP
39etoposide45 51 61 1111.5GSTT1, CYP2E1, CYP1A2, IGF1, UGT1A1, CYP3A4
40iron45 249.5HBG1, HBA2, HBA1, SOD1, AHSP, EPO
41ascorbic acid45 249.4TFRC, GSTM1, GSTT1, CYP2E1, EPO, SOD1
42estrone45 29 24 1111.2CYP2E1, ESR1, CYP3A4, CYP1A2, IGF1, UGT1A1
43creatinine458.1SOD1, GSTT1, TFRC, GSTM1, EPO, CYP2E1
44arginine458.1TFRC, UGT1A1, IGF1, AHSP, HBB, SOD1
45tamoxifen45 51 29 1111.0ESR1, CYP3A4, CYP1A2, CYP2E1, HBB, IGF1
46resveratrol45 61 24 1111.0CYP2E1, ESR1, CYP3A4, CYP1A2, SOD1
47cisplatin45 51 61 1110.6GSTT1, UGT1A1, GSTM1, TFRC, CYP2E1, SOD1
48estrogen457.2HBB, ESR1, CYP1A2, HFE, GSTM1, GSTT1
49oxygen45 248.0GSTM1, EPO, HBB, HBA2, HBA1, HBG1
50testosterone45 61 24 119.9CYP3A4, CYP2E1, CYP1A2, IGF1, UGT1A1, TFRC

GO Terms for genes affiliated with Beta Thalassemia

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Sources:
16Gene Ontology
See all sources

Cellular components related to Beta Thalassemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1haptoglobin-hemoglobin complexGO:03183810.1HBB, HBA2
2endocytic vesicle lumenGO:07168210.0HBB, HBA2
3hemoglobin complexGO:0058339.7HBB, HBA2, HBG1, AHSP
4blood microparticleGO:0725629.6TFRC, HBA2, HBB
5extracellular regionGO:0055768.6EPO, SOD1, HBB, HBA2, IGF1, TFRC

Biological processes related to Beta Thalassemia according to GeneCards/GeneDecks:

(show all 24)
idNameGO IDScoreTop Affiliating Genes
1oxygen transportGO:01567110.3HBB, HBA2
2hydrogen peroxide catabolic processGO:04274410.1HBB, HBA2
3steroid catabolic processGO:00670610.0CYP1A2, CYP3A4
4drug catabolic processGO:04273710.0CYP1A2, CYP3A4
5positive regulation of Ras protein signal transductionGO:0465799.9EPO, IGF1
6oxidative demethylationGO:0709899.9CYP3A4, CYP1A2
7exogenous drug catabolic processGO:0427389.8CYP3A4, CYP1A2
8hydrogen peroxide biosynthetic processGO:0506659.8SOD1, CYP1A2
9response to hydrogen peroxideGO:0425429.8SOD1, HBB, HBA2
10response to lipopolysaccharideGO:0324969.8UGT1A1, CYP1A2, EPO
11positive regulation of tyrosine phosphorylation of Stat5 proteinGO:0425239.7EPO, IGF1
12cellular iron ion homeostasisGO:0068799.7HFE, SOD1, TFRC
13porphyrin-containing compound metabolic processGO:0067789.6CYP1A2, UGT1A1
14monoterpenoid metabolic processGO:0160989.6CYP3A4, CYP2E1, CYP1A2
15steroid metabolic processGO:0082029.6CYP3A4, CYP2E1, UGT1A1
16prostate epithelial cord arborization involved in prostate glandular acinus morphogenesisGO:0605279.5IGF1, ESR1
17glutathione metabolic processGO:0067499.4SOD1, GSTM1, GSTT1
18heterocycle metabolic processGO:0464839.4CYP3A4, CYP2E1, CYP1A2, UGT1A1
19drug metabolic processGO:0171449.4UGT1A1, CYP1A2, CYP2E1, CYP3A4
20androgen metabolic processGO:0082099.1ESR1, CYP3A4
21response to drugGO:0424939.1UGT1A1, CYP2E1, SOD1, GSTT1
22oxidation-reduction processGO:0551148.9CYP1A2, CYP2E1, CYP3A4, HBA2, HBB, GSTT1
23xenobiotic metabolic processGO:0068058.6UGT1A1, CYP1A2, CYP2E1, CYP3A4, GSTM1, GSTT1
24small molecule metabolic processGO:0442818.2UGT1A1, CYP1A2, CYP2E1, CYP3A4, HBA2, HBB

Molecular functions related to Beta Thalassemia according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1haptoglobin bindingGO:03172010.2HBA2, HBB
2peroxidase activityGO:00460110.1HBB, HBA2
3hemoglobin bindingGO:03049210.1HBB, AHSP
4oxygen transporter activityGO:00534410.1HBB, HBA2, HBG1
5caffeine oxidase activityGO:0348759.6CYP3A4, CYP1A2
6oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygenGO:0167129.5CYP1A2, CYP2E1, CYP3A4
7monooxygenase activityGO:0044979.4CYP3A4, CYP2E1, CYP1A2
8oxygen bindingGO:0198259.3HBB, HBA2, HBG1, CYP3A4, CYP2E1
9steroid bindingGO:0054969.0UGT1A1, CYP3A4, ESR1
10oxidoreductase activityGO:0164919.0CYP1A2, CYP2E1, CYP3A4
11heme bindingGO:0200379.0CYP1A2, CYP2E1, CYP3A4, HBG1, HBA2, HBB
12iron ion bindingGO:0055069.0CYP1A2, CYP2E1, CYP3A4, HBG1, HBA2, HBB
13enzyme bindingGO:0198998.0UGT1A1, CYP1A2, CYP2E1, CYP3A4, ESR1, GSTM1

Products for genes affiliated with Beta Thalassemia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Beta Thalassemia

About this section
4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet