MCID: BTT002
MIFTS: 70

Beta Thalassemia malady

Blood diseases category

Summaries for Beta Thalassemia

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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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: Beta Thalassemia, also known as beta-thalassemia, is related to alpha thalassemia and deficiency anemia. An important gene associated with Beta Thalassemia is HBB (hemoglobin, beta), and among its related pathways are Factors involved in megakaryocyte development and platelet production and Platelet activation, signaling and aggregation. The drug sodium phenylbutyrate and the compounds iron and hydroxyurea have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and testes, and related mouse phenotypes are hematopoietic system and integument.

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:63 Beta thalassemias (β thalassemias) are a group of inherited blood disorders caused by reduced or absent... more...

Description from OMIM:46 603902

GeneReviews summary for b-thal

Aliases & Classifications for Beta Thalassemia

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8Disease Ontology, 63Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 44Novoseek, 60UMLS, 56SNOMED-CT, 34MeSH, 46OMIM, 39NCIt
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Classifications:

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


Aliases & Descriptions:

beta thalassemia 8 21 60
beta-thalassemia 63 19 42 20 22 44
thalassemia intermedia 63 20 22 60
cooley's anemia 63 19 42 60
beta thalassemia intermedia 42 22 60
erythroblastic anemia 63 42 21
mediterranean anemia 63 19 21
thalassemia major 63 20 44
beta thalassemia major 42 22
beta thalassemia minor 42 22
microcytemia, beta type 21
thalassemia, beta type 21
intermedia thalassemia 44


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Disease Ontology8 DOID:12241
MeSH34 D017086
OMIM46 603902
NCIt39 C34375

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 209)
idRelated DiseaseScoreTop Affiliating Genes
1alpha thalassemia31.3G6PD, UGT1A1, HFE, HBA2, HBG1, HBB
2deficiency anemia30.8HBG2, HBE1, HBB, HBG1, HBA2, HBD
3sickle cell anemia30.8G6PD, HBG1, HBB
4iron deficiency anemia30.8G6PD, TFRC, HFE, EPO, HBG2
5sickle cell disease30.8G6PD, HBG2, HBB, HBG1, HBA2, HBD
6hepatitis30.7TFRC, UGT1A1, HFE, HBE1
7hemochromatosis30.7TFR2, TFRC, HFE
8hereditary persistence of fetal hemoglobin30.6KLF1
9hemoglobinopathy30.6EPO, HFE, TFRC, G6PD, KLF1, HBA2
10hepatitis c30.6TFR2, HFE, TRIM22
11microcytic anemia30.4G6PD, TFRC, EPO, HBA2
12siderosis30.4TFRC, HFE
13hypertension30.3PPBP
14hemosiderosis30.3HFE, EPO
15hemolytic anemia30.2HBG2, HBB, HBA2, EPO, HFE, UGT1A1
16porphyria30.2GATA1, HFE
17cholelithiasis30.2UGT1A1
18porphyria cutanea tarda30.2TFRC, HFE
19hepatocellular carcinoma30.2PPBP, UGT1A1, HFE, HBB, HBE1
20atherosclerosis30.2AHSP, CHIT1, PPBP, G6PD, TNFRSF11B
21myelofibrosis30.2EPO, GATA1
22malaria30.0G6PD, TFRC, CHIT1, HBA2, HBB
23leukemia30.0KLF1, PPBP, GATA1, TFRC, HFE, EPO
24diabetes mellitus30.0HBA2, HFE, G6PD
25hereditary spherocytosis30.0G6PD, TFRC, UGT1A1, HFE
26cystic fibrosis30.0TNFRSF11B, TRIM22, HBB
27gaucher's disease30.0CHIT1
28hemochromatosis, type 330.0HFE, TFR2
29arthritis30.0TNFRSF11B, TFR2, HFE, HBB
30bronchitis30.0TFRC, HFE, EPO
31gilbert syndrome30.0UGT1A1, G6PD
32wilson disease30.0HFE, G6PD
33neonatal jaundice30.0UGT1A1, G6PD
34ischemia30.0AHSP, TNFRSF11B
35thalassemia11.4
36hemoglobin e disease10.7
37hemoglobin sickle-beta thalassemia10.5
38thalassemia, hispanic gamma-delta-beta10.5
39hypoparathyroidism10.4
40osteoporosis10.4
41thalassemia minor10.4
42splenic sequestration10.3
43hemoglobin e - beta-thalassemia10.3
44hemoglobin c - beta-thalassemia10.3
45hemoglobin lepore - beta-thalassemia10.3
46pseudoxanthoma elasticum10.2
47angioid streaks10.2
48thyroiditis10.2
49sickle delta beta thalassemia10.2
50thrombocytopenia with beta-thalassemia, x-linked10.2

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



Diseases related to beta thalassemia

Clinical Features for Beta Thalassemia

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46OMIM
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Clinical features from OMIM:

603902

Drugs & Therapeutics for Beta Thalassemia

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Beta Thalassemia

Drug clinical trials:

Search ClinicalTrials for Beta Thalassemia

Search NIH Clinical Center for Beta Thalassemia

Search CenterWatch for Beta Thalassemia

Inferred drug relations via UMLS60/NDF-RT40:

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 Beta Thalassemia22
5 Beta Thalassemia Minor22
6 Beta Thalassemia Major22
7 Beta Thalassemia Intermedia22

Anatomical Context for Beta Thalassemia

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32MalaCards
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MalaCards organs/tissues related to Beta Thalassemia:

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

Animal Models for Beta Thalassemia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Beta Thalassemia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000539710.5HBB, KLF1, TNFRSF11B, G6PD, GATA1, TFR2
2MP:001077110.5HBB, AHSP, GATA1, KLF1
3MP:000537010.4KLF1, GATA1, TFR2, TFRC, HFE, EPO
4MP:000538710.2KLF1, TNFRSF11B, GATA1, TFR2, TFRC, HFE

Publications for Beta Thalassemia

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50PubMed
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Articles related to Beta Thalassemia:

(show top 50)    (show all 763)
idTitleAuthorsYear
1
A synthetic model of human beta-thalassemia erythropoiesis using CD34+ cells from healthy adult donors. (23861885)
2013
2
A Sequence Variation: 713-8delC in the Transforming Growth Factor Beta 1 Gene Polymorphism in Thalassemia Major Patients. (23790953)
2013
3
Coronary Microvascular function, Peripheral Endothelial Function and Carotid IMT in beta-thalassemia minor. (23683324)
2013
4
Development of single-strand conformational polymorphism to screen for mutations in hotspot regions of beta-globin gene of beta-thalassemia patients of Sri Lanka. (23682446)
2013
5
Plastic bronchitis in beta thalassemia minor. (24049256)
2013
6
Exercise Stress Echocardiography with Tissue Doppler Imaging (TDI) Detects Early Systolic Dysfunction in Beta-Thalassemia Major Patients without Cardiac Iron Overload. (22811786)
2012
7
Development and evaluation of a reverse dot blot assay for the simultaneous detection of common alpha and beta thalassemia in Chinese. (22197394)
2012
8
Effect of heterozygous beta thalassemia on the phosphorylative response to Plasmodium falciparum infection. (22960126)
2012
9
Cytokine-induced apoptosis of beta-thalassemia/hemoglobin E erythroid progenitor cells via nitric oxide-mediated process in vitro. (21934298)
2011
10
Dental arch dimensions in subjects with beta-thalassemia major. (22269232)
2011
11
Drug metabolizing enzyme CYP1A2 status in pediatric patients with hemoglobin E-beta thalassemia. (20043572)
2009
12
A new index for discrimination between iron deficiency anemia and beta-thalassemia minor: results in 284 patients. (19579993)
2009
13
Renal tubule function in beta-thalassemia after hematopoietic stem cell transplantation. (18688653)
2009
14
Endothelial dysfunction and oxidant status in pediatric patients with hemoglobin E-beta thalassemia. (17891513)
2008
15
Upregulation of neutrophil gelatinase-associated lipocalin, NGAL/Lcn2, in beta-thalassemia patients. (18375251)
2008
16
Molecular characterization of delta beta-thalassemia and hereditary persistence of fetal hemoglobin in the Indian population. (18932066)
2008
17
Bone mineral density and calcium metabolism in adolescents with beta-thalassemia major. (19337166)
2008
18
Cerebrovascular accident in beta-thalassemia major (beta-TM) and beta-thalassemia intermedia (beta-TI). (17696211)
2008
19
Beta-globin gene cluster haplotypes and alpha-thalassemia in sickle cell disease patients from Trinidad. (18257074)
2008
20
Circulating osteoprotegerin and receptor activator of NF-kappaB ligand system in patients with beta-thalassemia major. (17187195)
2007
21
Distribution of beta-thalassemia mutations in the northern provinces of Iran. (17654072)
2007
22
Partial correction of murine beta-thalassemia with a gammaretrovirus vector for human gamma-globin. (16814578)
2006
23
Osteoporosis and osteosclerosis in sickle cell/beta-thalassemia: the role of the RANKL/osteoprotegerin axis. (16704959)
2006
24
Cardiovascular effects of splenomegaly and splenectomy in beta-thalassemia. (15711802)
2005
25
Molecular basis of beta-thalassemia in the population of Tunisia. (15481884)
2004
26
Simultaneous detection of alpha-thalassemia and beta-thalassemia by oligonucleotide microarray. (15339687)
2004
27
Tricuspid regurgitation in patients with beta-thalassemia major. (15449031)
2004
28
In vivo platelet activation and hyperaggregation in hemoglobin E/beta-thalassemia: a consequence of splenectomy. (12731676)
2003
29
Renal tubular dysfunction in beta-thalassemia minor. (14655187)
2003
30
Serum erythropoietin levels in pediatric patients with beta-thalassemia/hemoglobin E. (12465748)
2002
31
The (--(SEA)) alpha-thalassemia (SEA) deletion ameliorates the clinical phenotype of beta(0)/beta(+) but not necessarily beta(0)/beta(0) thalassemia. (11940490)
2002
32
A comparative study of Greek nondeletional hereditary persistence of fetal hemoglobin and beta-thalassemia compound heterozygotes. (11976733)
2002
33
Recombinant human erythropoietin therapy in a transfusion-dependent beta-thalassemia major patient. (11563599)
2001
34
Hypoparathyroidism and intracranial calcifications in beta-thalassemia major. (11241052)
2001
35
Thalassemia intermedia and extramedullary hematopoiesis associated with compound heterozygosity for the 532 bp deletion of the beta-globin gene and gene deletion hereditary persistence of fetal hemoglobin. (11300354)
2001
36
Variable severity of beta-thalassemia patients of eastern India: effect of alpha-thalassemia and xmnI polymorphism. (11833853)
2001
37
New trends in the treatment of beta-thalassemia. (10737372)
2000
38
Phlebotomy in beta-thalassemia intermedia and secondary hemosiderosis. (11565579)
2000
39
Expression of beta-globin in primary erythroid progenitors of beta-thalassemia patients using an SV40-based gene delivery system. (10645766)
1999
40
Scurvy in transfusion dependent beta-thalassemia. (10728043)
1999
41
Screening of beta zero-thalassemia in cord blood from 2,423 newborns in Xilin county of Guangxi]. (11721399)
1999
42
Molecular diagnosis of patients with beta-thalassemia major in central Taiwan by amplified created restriction site analysis. (9852674)
1998
43
Clinical experience using the Androderm testosterone transdermal system in hypogonadal adolescents and young men with beta-thalassemia major. (10091163)
1998
44
Beta-thalassemias: expression, molecular mechanisms and mutations in Indians. (10773945)
1998
45
Role of alternatively spliced beta E-globin mRNA on clinical severity of beta-thalassemia/hemoglobin E disease. (8629114)
1995
46
Hydroxyurea increases fetal hemoglobin in cultured erythroid cells derived from normal individuals and patients with sickle cell anemia or beta-thalassemia. (7680923)
1993
47
Oxidative red blood cell membrane injury in the pathophysiology of severe mouse beta-thalassemia. (1737090)
1992
48
Masked phenytoin-induced megaloblastic anemia in beta-thalassemia minor. (3113162)
1987
49
Arthritis in beta-thalassemia minor. (6626289)
1983
50
Hereditary persistence of fetal hemoglobin and beta-thalassemia in a Turkish child. (4200806)
1973

Genetic Variations for Beta Thalassemia

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Expression for genes affiliated with Beta Thalassemia

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1BioGPS, 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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53Reactome, 37NCBI BioSystems Database
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Pathways related to Beta Thalassemia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.5HBG2, HBE1, HBB, HBG1, HBD, GATA1
2
Hide members
10.5PPBP, GATA1, HBD, HBG1, HBB, HBE1
310.5TFRC, TFR2

Compounds for genes affiliated with Beta Thalassemia

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44Novoseek, 24HMDB, 49PharmGKB, 11DrugBank, 28IUPHAR, 2BitterDB, 59Tocris Bioscience
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Compounds related to Beta Thalassemia according to GeneCards/GeneDecks:

(show top 50)    (show all 81)
idCompoundScoreTop Affiliating Genes
1iron44 2412.0HFE, EPO, AHSP, HBA2, HBG1, HBB
2hydroxyurea44 49 1113.0UGT1A1, HBA2, EPO, TFRC, GATA1, PPBP
3oxygen44 2412.0EPO, HBG2, HBB, HBG1, HBA2, HBD
4heme28 11 2413.0HFE, HBD, HBG1, HBB, HBE1, HBG2
523-diphosphoglycerate4411.0HBB, HBA2, EPO, G6PD, HBG2
65-aminolevulinic acid44 2412.0GATA1, HBB, HBG1, HFE, TFRC
7azathioprine44 49 2 1114.0G6PD, GATA1, EPO, HBG1, HBB, TNFRSF11B
8benzidine4411.0EPO, UGT1A1, TFRC, HBG1, HBB
9porphobilinogen44 11 2413.0HBG1, HBB, TFRC, GATA1
10aspartate4411.0TFRC, EPO, HFE, UGT1A1, TNFRSF11B, GATA1
11butyrate4410.9EPO, TFRC, GATA1, HBA2, HBG1, HBB
12s-nitrosocysteine4410.9AHSP, HBB, HBG2
13leucine4410.9HBG1, HBA2, UGT1A1, GATA1, TRIM22, PPBP
14aclacinomycin4410.9TFRC, GATA1, HBG1
15ascorbic acid44 2411.9HBG2, EPO, HFE, TNFRSF11B, G6PD, TFRC
16estrogen4410.9GATA1, TRIM22, AHSP
17deferoxamine44 1111.9EPO, TFRC, TFR2, HBG2
18iron dextran44 1111.9TFRC, EPO, HBB
19dmso4410.9G6PD, GATA1, HBB, TFRC, PPBP
20succinylacetone4410.9HBB, EPO, TFRC
21testosterone44 59 11 2413.9TFRC, TRIM22, EPO, UGT1A1, G6PD, TNFRSF11B
22lactate4410.9HBB, EPO, TFRC, G6PD, HBG2, PPBP
23neomycin4410.9HBB, EPO, HBG1, TRIM22
24zinc protoporphyrin4410.9TFRC, G6PD, EPO
25malondialdehyde4410.9G6PD, PPBP, EPO, HBG2
26chloramphenicol44 2 1112.9HBB, UGT1A1, TRIM22, GATA1, HBE1
27thymidine44 2411.9TFRC, PPBP, UGT1A1, EPO, HBA2, HBB
28nitric oxide44 11 2412.9PPBP, HBB, HBG2, HBG1, TRIM22, TNFRSF11B
29glucose 6-phosphate44 2411.9UGT1A1, HBG2, G6PD, HBB
30alanine4410.9HBA2, HFE, UGT1A1, HBB, TFRC, PPBP
31creatinine4410.8TNFRSF11B, G6PD, PPBP, TFRC, EPO, HBG2
32methylene4410.8HBG2, AHSP, G6PD
33lipid4410.8HFE, HBG2, AHSP, G6PD, TRIM22, CHIT1
34tyrosine4410.8PPBP, UGT1A1, TRIM22, EPO, HBA2, HBB
35cytarabine44 49 1112.8EPO, HBG1, GATA1, TFRC
36sodium nitroprusside4410.8AHSP, G6PD, HBG2, TFRC
378-aminoquinoline4410.8G6PD, HBG2
38vitamin d4410.8TFRC, TRIM22, EPO, GATA1, TNFRSF11B
39fe2+4410.8HBG2, HFE, TFRC
40atp44 2811.7TRIM22, AHSP, HBA2, G6PD, TNFRSF11B, PPBP
41hemosiderin4410.7HFE, HBG2
42phenazine methosulfate4410.7G6PD, HBG2
43cysteine4410.7HBB, TNFRSF11B, PPBP, HBG2, AHSP, HFE
44doxorubicin44 49 1112.7TFRC, TNFRSF11B, G6PD, GATA1, HBG1
45phenylhydrazine4410.6EPO, HBG2
46no-dimethylhydroxylamine4410.6HBG2, G6PD
47nitroglycerin44 1111.5HBG2, AHSP, TNFRSF11B
48hemophan4410.5EPO, PPBP
49folate4410.4EPO, G6PD, GATA1, TFRC
50mycophenolate mofetil44 49 1112.2UGT1A1, EPO, TFRC

GO Terms for genes affiliated with Beta Thalassemia

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16Gene Ontology
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Cellular components related to Beta Thalassemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endocytic vesicle lumenGO:07168210.5HBB, HBA2
2hemoglobin complexGO:00583310.5HBG2, AHSP, HBD, HBA2, HBG1, HBB
3haptoglobin-hemoglobin complexGO:03183810.2HBB, HBA2

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

idNameGO IDScoreTop Affiliating Genes
1blood coagulationGO:00759610.5HBG2, HBE1, HBB, HBG1, HBD, GATA1
2oxygen transportGO:01567110.5HBB, HBA2
3erythrocyte maturationGO:04324910.4KLF1, G6PD, EPO
4cellular iron ion homeostasisGO:00687910.2HFE, TFRC, TFR2

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1oxygen transporter activityGO:00534410.7HBG2, HBE1, HBB, HBG1, HBA2, HBD
2oxygen bindingGO:01982510.7HBD, HBA2, HBG1, HBB, HBE1, HBG2
3heme bindingGO:02003710.6HBD, HBA2, HBG1, HBB, HBE1, HBG2
4iron ion bindingGO:00550610.5HBD, HBA2, HBG1, HBB, HBE1, HBG2
5hemoglobin bindingGO:03049210.5HBB, AHSP
6transferrin receptor activityGO:00499810.4TFRC, TFR2
7haptoglobin bindingGO:03172010.2HBB, HBA2

Products for genes affiliated with Beta Thalassemia

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  • Antibodies
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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet