MCID: BTT002
MIFTS: 78

Beta Thalassemia malady

Genetic diseases, Rare diseases, Blood diseases, Immune diseases categories
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Summaries for Beta Thalassemia

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NIH Rare Diseases:42 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 based summary: Beta Thalassemia, also known as beta-thalassemia, is related to hereditary persistence of fetal hemoglobin and hemoglobinopathy, and has symptoms including 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 liver, 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. They are caused by reduced... more...

Description from OMIM:46 603902

GeneReviews summary for b-thal

Aliases & Classifications for Beta Thalassemia

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Beta Thalassemia, Aliases & Descriptions:

Name: Beta Thalassemia 8 21 62
Beta-Thalassemia 65 19 42 20 22 44
Thalassemia Intermedia 65 42 20 22 62
Mediterranean Anemia 65 19 42 21
Thalassemia Major 65 42 20 44
Cooley's Anemia 65 19 42 62
Beta Thalassemia Intermedia 42 22 62
Beta Thalassemia Major 42 22 62
Erythroblastic Anemia 65 42 21
 
Thalassemia Minor 42 20 62
Beta Thalassemia Minor 42 22
Microcytemia, Beta Type 21
Thalassemia, Beta Type 21
Intermedia Thalassemia 44
Anemia, Erythroblastic 62
Anemia, Mediterranean 62
Thalassaemia Major 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Blood diseases, Immune diseases


External Ids:

Disease Ontology8 DOID:12241
NCIt39 C34375
MeSH34 D017086
OMIM46 603902

Related Diseases for Beta Thalassemia

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Diseases in the Alpha Thalassemia family:

Thalassemia beta 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 233)
idRelated DiseaseScoreTop Affiliating Genes
1hereditary persistence of fetal hemoglobin31.9HBBP1, HBB
2hemoglobinopathy31.6BCL11A
3iron deficiency anemia31.4HFE, EPO, TFRC
4siderosis31.3HFE, TFRC
5sickle cell anemia31.3HBA2, BCL11A, HBA1, HBB
6hemochromatosis31.2HFE, TFRC
7alpha thalassemia31.1HBG1, HBA1, UGT1A1, HBA2, HBB, HFE
8hepatitis31.1HFE, CYP2E1, CYP1A2
9hydrops fetalis31.1HBA2, HBB
10microcytic anemia31.0TFRC, HBA2, EPO
11hemosiderosis31.0EPO, HFE
12thalassemia-beta, dominant inclusion-body31.0HBB, HBBP1
13sickle cell disease31.0HBB, HBA2, HBG1, UGT1A1, TFRC, EPO
14hemoglobin h disease, nondeletional30.9HBA2, HBA1
15hepatitis c30.9HFE, CYP2E1, CYP1A2
16porphyria cutanea tarda30.8HFE, TFRC, CYP1A2
17thalassemias, beta-30.7HBBP1, HBB
18hereditary spherocytosis30.6TFRC, UGT1A1, HFE
19hemolytic anemia30.6EPO, HBA2, HBB, HFE, TFRC, UGT1A1
20deficiency anemia30.4AHSP, HBG1, HBA1, HBA2, HBB, EPO
21diabetic nephropathy30.4EPO, HFE, TFRC
22malaria30.4HBB, GSTM1, TFRC, HBA2
23osteoporosis30.3IGF1, ESR1, CYP3A4
24insulin resistance30.2CYP1A2, CYP2E1, HFE, IGF1
25cystic fibrosis30.2CYP1A2, HBB, GSTM1, TRIM22
26atherosclerosis29.8CYP1A2, GSTT1, AHSP, SOD1, IGF1
27adenoma29.3CYP1A2, GSTT1, IGF1, GSTM1, HFE, TFRC
28leukemia29.2TFRC, GSTT1, GSTM1, HFE, EPO, HBB
29diabetes mellitus29.1SOD1, HFE, IGF1, CYP2E1, CYP3A4, HBA1
30thalassemia11.5
31hemoglobin e - beta-thalassemia10.8
32delta-beta thalassemia10.8
33hemoglobin e disease10.7
34hemoglobin sickle-beta thalassemia10.6
35heinz body anemia10.6HBA2
36hemoglobin c - beta-thalassemia10.5
37hypoparathyroidism10.5
38thalassemia, hispanic gamma-delta-beta10.5
39sickle cell - beta-thalassemia disease10.5
40erythrocytosis10.5HBB, EPO
41histiocytosis-lymphadenopathy plus syndrome10.5HBA2, HBB
42heinz body anemias, beta-10.4HBBP1, HBB
43hemoglobin s beta-thalassemia10.4
44folic acid deficiency anemia10.4TFRC, EPO
45vascular cancer10.4HBA1, HBA2
46splenic sequestration10.4
47epithelioid sarcoma10.4HBA2, HBA1
48capillary hemangioma10.4HBA1, HBA2
49lymphangioma10.4HBA2, HBA1
50hemoglobin lepore - beta-thalassemia10.3

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



Diseases related to beta thalassemia

Symptoms for Beta Thalassemia

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Clinical features from OMIM:

603902

HPO human phenotypes related to Beta Thalassemia:

(show all 18)
id Description Frequency HPO Source Accession
1 pallor hallmark (90%) HP:0000980
2 splenomegaly hallmark (90%) HP:0001744
3 microcytic anemia hallmark (90%) HP:0001935
4 abnormality of the heme biosynthetic pathway hallmark (90%) HP:0010472
5 abnormality of the genital system typical (50%) HP:0000078
6 behavioral abnormality typical (50%) HP:0000708
7 abnormality of the skull typical (50%) HP:0000929
8 muscle weakness typical (50%) HP:0001324
9 respiratory insufficiency typical (50%) HP:0002093
10 hepatomegaly typical (50%) HP:0002240
11 reduced bone mineral density typical (50%) HP:0004349
12 abnormality of temperature regulation typical (50%) HP:0004370
13 abnormality of iron homeostasis typical (50%) HP:0011031
14 biliary tract abnormality occasional (7.5%) HP:0001080
15 hypertrophic cardiomyopathy occasional (7.5%) HP:0001639
16 thrombocytopenia occasional (7.5%) HP:0001873
17 thrombophlebitis occasional (7.5%) HP:0004418
18 skin ulcer occasional (7.5%) HP:0200042

Drugs & Therapeutics for Beta Thalassemia

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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-RT40:

Genetic Tests for Beta Thalassemia

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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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MalaCards organs/tissues related to Beta Thalassemia:

32
Bone, Bone marrow, Liver, Testes, Thyroid, Endothelial, Skin, Pituitary, Neutrophil, Whole blood, Brain, Spinal cord, Colon, Kidney, Breast, Myeloid

Animal Models for Beta Thalassemia or affiliated genes

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MGI Mouse Phenotypes related to Beta Thalassemia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107717.8TFRC, IGF1, AHSP, HBA2, HBB, ESR1
2MP:00053707.6TFRC, CYP1A2, CYP2E1, HBB, SOD1, ESR1
3MP:00036317.2IGF1, HBB, SOD1, ESR1, BCL11A, HFE
4MP:00053857.2TFRC, IGF1, CYP1A2, CYP2E1, HBB, SOD1
5MP:00053877.1TFRC, IGF1, CYP1A2, AHSP, HBB, SOD1
6MP:00053976.8TFRC, IGF1, CYP1A2, AHSP, HBA2, HBB
7MP:00053846.8TFRC, IGF1, AHSP, HBA2, SOD1, ESR1
8MP:00107686.2AHSP, CYP2E1, CYP1A2, IGF1, TFRC, HBA1
9MP:00053766.0GSTT1, TFRC, IGF1, CYP1A2, CYP2E1, HBA2

Publications for Beta Thalassemia

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Articles related to Beta Thalassemia:

(show top 50)    (show all 729)
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
Recombinant human erythropoietin therapy in a transfusion-dependent beta-thalassemia major patient. (11563599)
2001
36
Premarital screening of beta-thalassemia trait in the province of Denizli, Turkey. (11111119)
2000
37
Molecular diagnosis of patients with beta-thalassemia major in central Taiwan by amplified created restriction site analysis. (9852674)
1998
38
Recombinant erythropoietin trial in children with transfusion-dependent homozygous beta-thalassemia. (9401497)
1997
39
Plasma interleukin-3 (IL-3) and IL-7 concentrations in children with homozygous beta-thalassemia. (9476461)
1997
40
Role of alternatively spliced beta E-globin mRNA on clinical severity of beta-thalassemia/hemoglobin E disease. (8629114)
1995
41
Treatment of beta-thalassemia with hydroxyurea (HU)--effects of HU on globin gene expression. (7865126)
1994
42
Liver tissue injury secondary to iron overload in beta-thalassemia/hemoglobin E disease. (1298983)
1992
43
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
44
Oropharyngeal colonization with aerobic bacteria in beta-thalassemia/hemoglobin E disease. (3318952)
1987
45
Masked phenytoin-induced megaloblastic anemia in beta-thalassemia minor. (3113162)
1987
46
Posterior mediastinal masses in two siblings with hemoglobin E-beta thalassemia. (3486354)
1986
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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Clinvar genetic disease variations for Beta Thalassemia:

6 (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 variantPathogenicrs33972047GRCh37Chr 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 variantPathogenicrs34999973GRCh37Chr 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 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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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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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 metabolism37
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 pathway37
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 Metabolism37
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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Compounds related to Beta Thalassemia according to GeneCards/GeneDecks:

(show top 50)    (show all 406)
idCompoundScoreTop Affiliating Genes
1iron dextran44 1111.0TFRC, HBA1, HBB, EPO
25-aminolevulinic acid44 2410.9TFRC, HFE, HBB, HBG1
3trans,trans-muconic acid449.7CYP2E1, GSTM1, GSTT1
4hydroxyurea44 50 1111.6TFRC, UGT1A1, HBG1, HBB, EPO, HBA2
5s-phenylmercapturic acid449.6GSTM1, CYP2E1, GSTT1
6s-nitrosocysteine449.4AHSP, HBB, SOD1
7rsai449.4HFE, GSTT1, CYP2E1, GSTM1
8flunitrazepam28 44 1111.4CYP3A4, UGT1A1, CYP1A2, CYP2E1
9ondansetron50 44 24 1112.4EPO, CYP3A4, CYP2E1, CYP1A2
10beta-naphthoflavone44 1110.3CYP3A4, CYP2E1, UGT1A1, CYP1A2
11hydrocarbons449.3GSTT1, TRIM22, GSTM1, CYP1A2, UGT1A1
12pyrazinamide44 50 1111.3GSTM1, GSTT1, CYP1A2, CYP3A4
136beta-hydroxycortisol449.3CYP3A4, CYP2E1, CYP1A2
14p-nitrophenol44 1110.3CYP3A4, CYP1A2, CYP2E1, UGT1A1
15debrisoquine44 5010.3CYP2E1, CYP1A2, CYP3A4, GSTM1
16aflatoxin b144 2410.3GSTT1, GSTM1, CYP3A4, CYP1A2
17carvedilol44 50 28 1112.2CYP1A2, CYP3A4, CYP2E1, UGT1A1
18theophylline44 28 24 1112.2CYP2E1, EPO, TFRC, CYP1A2, CYP3A4
19uridine diphosphate449.2CYP3A4, CYP1A2, CYP2E1, UGT1A1
20valproic acid44 50 24 1112.1UGT1A1, CYP1A2, CYP2E1, CYP3A4, HBG1
21benzidine449.1TFRC, UGT1A1, HBG1, HBB, EPO, GSTM1
22cytarabine44 50 1111.1CYP3A4, CYP2E1, TFRC, HBG1, EPO
23benzyl alcohol44 1110.1CYP1A2, CYP2E1, SOD1, CYP3A4
24selegiline44 1110.0SOD1, CYP2E1, CYP1A2, CYP3A4
25ticagrelor50 1110.0CYP3A4, CYP2E1, CYP1A2
26phenobarbital44 28 50 1112.0CYP1A2, GSTM1, CYP3A4, CYP2E1, UGT1A1
27isoniazid44 50 1111.0CYP3A4, CYP1A2, CYP2E1, GSTM1, GSTT1
28vitamin d449.0TRIM22, GSTM1, IGF1, EPO, TFRC
29propofol44 50 1110.9CYP3A4, CYP2E1, CYP1A2, UGT1A1
30menadione44 24 1110.9CYP2E1, TFRC, SOD1, CYP1A2, IGF1
31clomifene50 119.9ESR1, CYP3A4, CYP1A2, CYP2E1
32diethyl dithiocarbamate448.9CYP3A4, EPO, CYP1A2, SOD1, CYP2E1
33toremifene44 119.8CYP1A2, CYP2E1, CYP3A4, ESR1
34heme28 24 1110.8HBA1, HBG1, CYP1A2, CYP2E1, CYP3A4, HBB
35rifampin50 119.7GSTT1, UGT1A1, CYP1A2, CYP2E1, CYP3A4, GSTM1
36epoxide448.7GSTT1, UGT1A1, CYP1A2, CYP2E1, CYP3A4, GSTM1
37oxaliplatin44 50 1110.6SOD1, CYP2E1, CYP1A2, UGT1A1, GSTT1, GSTM1
38dopamine44 28 24 1111.6IGF1, TFRC, CYP1A2, TRIM22, GSTM1, AHSP
39etoposide44 50 61 1111.5GSTT1, CYP2E1, CYP1A2, IGF1, UGT1A1, CYP3A4
40iron44 249.5HBG1, HBA2, HBA1, SOD1, AHSP, EPO
41ascorbic acid44 249.4TFRC, GSTM1, GSTT1, CYP2E1, EPO, SOD1
42estrone44 28 24 1111.2CYP2E1, ESR1, CYP3A4, CYP1A2, IGF1, UGT1A1
43creatinine448.1SOD1, GSTT1, TFRC, GSTM1, EPO, CYP2E1
44arginine448.1TFRC, UGT1A1, IGF1, AHSP, HBB, SOD1
45tamoxifen44 50 28 1111.0ESR1, CYP3A4, CYP1A2, CYP2E1, HBB, IGF1
46resveratrol44 61 24 1111.0CYP2E1, ESR1, CYP3A4, CYP1A2, SOD1
47cisplatin44 50 61 1110.6GSTT1, UGT1A1, GSTM1, TFRC, CYP2E1, SOD1
48estrogen447.2HBB, ESR1, CYP1A2, HFE, GSTM1, GSTT1
49oxygen44 248.0GSTM1, EPO, HBB, HBA2, HBA1, HBG1
50testosterone44 61 24 119.9CYP3A4, CYP2E1, CYP1A2, IGF1, UGT1A1, TFRC

GO Terms for genes affiliated with Beta Thalassemia

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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

Sources for Beta Thalassemia

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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