MCID: BTT002
MIFTS: 69

Beta Thalassemia malady

Blood category

Summaries for Beta Thalassemia

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 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 thalassemia and alpha thalassemia. 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 skin, liver and spinal cord, 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:64 Beta-thalassemias (β-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

Sources:
8Disease Ontology, 21Genetics Home Reference, 61UMLS, 64Wikipedia, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 45Novoseek, 57SNOMED-CT, 35MeSH, 47OMIM, 40NCIt
See all sources

Classifications:

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


Aliases & Descriptions:

beta thalassemia 8 21 61
beta-thalassemia 64 19 43 20 22 45
thalassemia intermedia 64 20 22 61
cooley's anemia 64 19 43 61
beta thalassemia intermedia 43 22 61
erythroblastic anemia 64 43 21
mediterranean anemia 64 19 21
thalassemia major 64 20 45
beta thalassemia major 43 22
beta thalassemia minor 43 22
microcytemia, beta type 21
thalassemia, beta type 21
intermedia thalassemia 45


External Ids:

Disease Ontology8 DOID:12241
MeSH35 D017086
OMIM47 603902
NCIt40 C34375

Related Diseases for Beta Thalassemia

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 205)
idRelated DiseaseScoreTop Affiliating Genes
1thalassemia32.1HBG2, KLF1, G6PD, GATA1, TFRC, HBE1
2alpha thalassemia31.3G6PD, UGT1A1, HFE, HBA2, HBG1, HBB
3deficiency anemia30.9HBG2, HBE1, HBB, HBG1, HBA2, HBD
4sickle cell anemia30.9G6PD, HBG1, HBB
5iron deficiency anemia30.8G6PD, TFRC, HFE, EPO, HBG2
6sickle cell disease30.8G6PD, HBG2, HBB, HBG1, HBA2, HBD
7hemochromatosis30.7TFR2, TFRC, HFE
8hereditary persistence of fetal hemoglobin30.7KLF1
9hepatitis b30.6TFRC, HFE, TRIM22, HBE1
10siderosis30.4TFRC, HFE
11hydrops fetalis30.4HBB, HBA2
12hepatitis c30.4TFR2, HFE, TRIM22
13hemosiderosis30.3HFE, EPO
14splenomegaly30.2HBA2, EPO, CHIT1
15cholelithiasis30.2UGT1A1
16porphyria cutanea tarda30.2TFRC, HFE
17atherosclerosis30.2AHSP, CHIT1, PPBP, G6PD, TNFRSF11B
18hereditary spherocytosis30.0G6PD, TFRC, UGT1A1, HFE
19cystic fibrosis30.0TNFRSF11B, TRIM22, HBB
20arthritis30.0TNFRSF11B, TFR2, HFE, HBB
21bronchitis30.0TFRC, HFE, EPO
22gilbert syndrome30.0UGT1A1, G6PD
23hypercholesterolemia30.0PPBP, AHSP
24wilson disease30.0HFE, G6PD
25hemoglobin c - beta-thalassemia11.0
26hemoglobin s beta-thalassemia10.9
27thalassemia minor10.9
28hemoglobin e - beta-thalassemia10.8
29hemoglobin d disease10.7
30delta-beta thalassemia10.7
31thalassemia, delta-10.7
32hemoglobin sickle-beta thalassemia10.7
33hemoglobin c disease10.6
34sickle cell - beta-thalassemia disease10.6
35thalassemia, hispanic gamma-delta-beta10.5
36hypoparathyroidism10.5
37thalassemias, beta-10.4
38osteoporosis10.4
39b cell deficiency10.4
40t cell deficiency10.4
41hemoglobin e disease10.4
42splenic sequestration10.4
43hemoglobin lepore - beta-thalassemia10.4
44sickle delta beta thalassemia10.3
45hemoglobin so10.3
46pseudoxanthoma elasticum10.2
47angioid streaks10.2
48hepatitis a10.2
49thalassemia-beta, dominant inclusion-body10.2
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

Sources:
47OMIM
See all sources

Clinical features from OMIM:

603902

Drugs & Therapeutics for Beta Thalassemia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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 UMLS61/NDF-RT41:

Genetic Tests for Beta Thalassemia

Sources:
20GeneTests, 22GTR
See all sources

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

Sources:
33MalaCards
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MalaCards organs/tissues related to Beta Thalassemia:

33
Skin, Liver, Spinal cord, Brain, Kidney, Bone marrow, Whole blood, Colon, Thyroid, Adrenal gland, Breast, Myeloid, Nk cells, T cells, B cells, Endothelial, Fetal brain, Fetal liver, Fetal thyroid, Pancreatic islet, Pituitary

Animal Models for Beta Thalassemia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Beta Thalassemia:

37
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

Sources:
51PubMed
See all sources

Articles related to Beta Thalassemia:

(show top 50)    (show all 794)
idTitleAuthorsYear
1
Thyroid function status and echocardiographic abnormalities in patients with Beta thalassemia major in bahrain. (23400522)
2013
2
Bone-related complications of transfusion-dependent beta thalassemia among children and adolescents. (23475127)
2013
3
Regional consensus opinion for the management of Beta thalassemia major in the Arabian Gulf area. (24044606)
2013
4
Morbidities and mortality in transfusion-dependent Beta-thalassemia patients (single-center experience). (23301991)
2013
5
End stage renal disease in six patients with beta-thalassemia intermedia. (23732019)
2013
6
Plasma zinc level in hepatitis C patients with or without Beta thalassemia major; is there any difference? (24130600)
2013
7
Usefulness of pulsed wave tissue doppler imaging in assessment of left ventricular functions in children with beta-thalassemia major. (23604609)
2013
8
Exercise Stress Echocardiography with Tissue Doppler Imaging (TDI) Detects Early Systolic Dysfunction in Beta-Thalassemia Major Patients without Cardiac Iron Overload. (22811786)
2012
9
Beta thalassemia major: the effect of age on glomerular filtration rate. (21912026)
2011
10
Serum immunoglobulin levels in splenectomized and non- splenectomized patients with major Beta-thalassemia. (23056771)
2011
11
Major beta-thalassemia, use of desferiexamine and renal proximal tubular damage. (21682083)
2011
12
Analysis of alpha-hemoglobin-stabilizing protein (AHSP) gene as a genetic modifier to the phenotype of beta-thalassemia in Southern China. (20627634)
2010
13
Prevalence of hepatosplenomegaly in beta thalassemia minor subjects in Iran. (18029131)
2009
14
Regional heterogeneity of beta-thalassemia mutations in the multi ethnic Indian population. (19254853)
2009
15
Fatal overdose due to prescription fentanyl patches in a patient with sickle cell/beta-thalassemia and acute chest syndrome: A case report and review of the literature. (19465816)
2009
16
On the road to gene therapy for beta-thalassemia and sickle cell anemia. (18231949)
2008
17
Priapism in a 15-year-old boy with major beta-thalassemia. (18454429)
2008
18
Controlling alpha-globin: a review of alpha-globin expression and its impact on beta-thalassemia. (18768527)
2008
19
Liver iron concentrations and urinary hepcidin in beta-thalassemia. (17488680)
2007
20
Growth hormone reserve in adult beta thalassemia patients. (17709895)
2007
21
Liver expression of hepcidin and other iron genes in two mouse models of beta-thalassemia. (17018382)
2006
22
Phenotyping and genotyping studies in a family with the compound heterozygosity deltabeta Thalassemia/beta(IVSII-849) Thalassemia]. (16886779)
2006
23
Anesthetic management of a patient with beta-thalassemia intermedia undergoing splenectomy: a case report. (16032456)
2005
24
Progress toward the genetic treatment of the beta-thalassemias. (16339654)
2005
25
Parallel minisequencing followed by multiplex matrix-assisted laser desorption/ionization mass spectrometry assay for beta-thalassemia mutations. (15761692)
2005
26
Short stature in beta-thalassemia minor subjects. (15507851)
2004
27
Relationship between resistance to erythropoietin and high anomalous hemoglobin levels in hemodialysis patients with beta-thalassemia minor. (14586179)
2003
28
Renal tubular dysfunction in a patient with beta-thalassemia minor. (12187108)
2002
29
Recombinant human erythropoietin therapy in a transfusion-dependent beta-thalassemia major patient. (11563599)
2001
30
Erythrocyte membrane protein abnormalities in beta-thalassemia of the Li nationality in Hainan. (11780409)
2001
31
Gilbert syndrome associated with beta-thalassemia. (11764096)
2001
32
Legg-CalvAc-Perthes disease, protein C deficiency, and beta-thalassemia major: report of two cases. (10641702)
2000
33
New trends in the treatment of beta-thalassemia. (10737372)
2000
34
Urinary zinc excretion and zinc status of patients with beta-thalassemia major. (10535525)
1999
35
Molecular diagnosis of patients with beta-thalassemia major in central Taiwan by amplified created restriction site analysis. (9852674)
1998
36
Blunted serum erythropoietin response to anemia in patients polytransfused for beta-thalassemia major. (9544165)
1998
37
Erythroblastic inclusions in dominantly inherited beta thalassemias. (8978308)
1997
38
Butyrate in the treatment of sickle cell disease and beta-thalassemia. (9371980)
1995
39
Delayed puberty in males with beta-thalassemia major: pulsatile gonadotropin-releasing hormone administration induces changes in gonadotropin isoform profiles and an increase in sex steroids. (7627337)
1995
40
Oral sodium phenylbutyrate therapy in homozygous beta thalassemia: a clinical trial. (7528572)
1995
41
Combined radiotherapeutic and surgical management of a spinal cord compression by extramedullary hematopoiesis in a patient with hemoglobin E beta-thalassemia. (8091937)
1994
42
Molecular characterization of beta-thalassemia mutations in Egypt. (1975554)
1990
43
Down syndrome complicated by hemoglobin S/beta+ thalassemia. Atypical expression of coexistent disease. (2141809)
1990
44
Calculus biliary tract disease in beta-thalassemia trait. (2638339)
1989
45
Molecular analysis of deletion and nondeletion hereditary persistence of fetal hemoglobin and identification of a new mutation causing beta-thalassemia. (2409868)
1985
46
A family of beta-thalassemia minor found incidentally as a result of hypochromia and microcytosis of the red blood cells. (6204497)
1984
47
mRNA-deficient beta o-thalassemia results from a single nucleotide deletion. (6292840)
1982
48
Hemoglobin Suan-Dok (alpha 2 109 (G16) Leu replaced by Arg beta 2): an unstable variant associated with alpha-thalassemia. (478977)
1979
49
Hereditary persistence of fetal hemoglobin, beta thalassemia, and the hemoglobin delta-beta locus: further family data and genetic interpretations. (1124762)
1975
50
Combined long-term treatment of hemosiderosis with desferioxamine and DTPA in homozygous beta-thalassemia. (4528481)
1974

Genetic Variations for Beta Thalassemia

Expression for genes affiliated with Beta Thalassemia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 38NCBI BioSystems Database
See all sources

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

Sources:
45Novoseek, 24HMDB, 50PharmGKB, 11DrugBank, 29IUPHAR, 2BitterDB, 60Tocris Bioscience
See all sources

Compounds related to Beta Thalassemia according to GeneCards/GeneDecks:

(show top 50)    (show all 81)
idCompoundScoreTop Affiliating Genes
1iron45 2412.0HBG2, TNFRSF11B, GATA1, HBB, HBG1, HBA2
2hydroxyurea45 50 1113.0HBG2, HBB, HBG1, HBA2, EPO, UGT1A1
3oxygen45 2412.0G6PD, PPBP, EPO, AHSP, HBD, HBA2
4heme29 11 2413.0HFE, HBD, HBG1, HBB, HBE1, HBG2
523-diphosphoglycerate4511.0G6PD, EPO, HBA2, HBB, HBG2
65-aminolevulinic acid45 2412.0GATA1, TFRC, HFE, HBG1, HBB
7azathioprine45 50 2 1114.0TNFRSF11B, G6PD, GATA1, EPO, HBG1, HBB
8benzidine4511.0HBB, HBG1, EPO, UGT1A1, TFRC
9porphobilinogen45 11 2413.0GATA1, TFRC, HBG1, HBB
10aspartate4511.0TNFRSF11B, G6PD, GATA1, TFRC, UGT1A1, HFE
11butyrate4510.9GATA1, TFRC, EPO, HBA2, HBG1, HBB
12leucine4510.9PPBP, GATA1, UGT1A1, TRIM22, HBA2, HBG1
13aclacinomycin4510.9GATA1, TFRC, HBG1
14s-nitrosocysteine4510.9AHSP, HBB, HBG2
15ascorbic acid45 2411.9TNFRSF11B, G6PD, TFRC, HFE, EPO, HBG2
16estrogen4510.9GATA1, TRIM22, AHSP
17deferoxamine45 1111.9TFR2, TFRC, EPO, HBG2
18iron dextran45 1111.9HBB, EPO, TFRC
19dmso4510.9G6PD, PPBP, GATA1, TFRC, HBB
20succinylacetone4510.9HBB, EPO, TFRC
21testosterone45 60 11 2413.9TNFRSF11B, G6PD, TFRC, UGT1A1, HFE, TRIM22
22lactate4510.9G6PD, PPBP, TFRC, EPO, HBB, HBG2
23neomycin4510.9HBB, HBG1, EPO, TRIM22
24zinc protoporphyrin4510.9EPO, TFRC, G6PD
25malondialdehyde4510.9G6PD, PPBP, EPO, HBG2
26chloramphenicol45 2 1112.9GATA1, UGT1A1, TRIM22, HBB, HBE1
27thymidine45 2411.9PPBP, TFRC, UGT1A1, EPO, HBA2, HBB
28nitric oxide45 11 2412.9TNFRSF11B, PPBP, TRIM22, AHSP, HBG1, HBB
29glucose 6-phosphate45 2411.9G6PD, UGT1A1, HBB, HBG2
30alanine4510.9PPBP, TFRC, UGT1A1, HFE, HBA2, HBB
31creatinine4510.8TNFRSF11B, G6PD, PPBP, TFRC, EPO, HBG2
32methylene4510.8G6PD, AHSP, HBG2
33lipid4510.8TNFRSF11B, G6PD, PPBP, HFE, CHIT1, TRIM22
34tyrosine4510.8TNFRSF11B, PPBP, TFRC, UGT1A1, HFE, TRIM22
35cytarabine45 50 1112.8HBG1, EPO, TFRC, GATA1
36sodium nitroprusside4510.8HBG2, AHSP, TFRC, G6PD
378-aminoquinoline4510.8G6PD, HBG2
38vitamin d4510.8TNFRSF11B, GATA1, TFRC, TRIM22, EPO
39fe2+4510.8HBG2, HFE, TFRC
40atp45 2911.7TNFRSF11B, G6PD, PPBP, TRIM22, AHSP, HBA2
41phenazine methosulfate4510.7G6PD, HBG2
42hemosiderin4510.7HFE, HBG2
43cysteine4510.7TNFRSF11B, PPBP, TFRC, HFE, AHSP, HBB
44doxorubicin45 50 1112.7TNFRSF11B, G6PD, GATA1, TFRC, HBG1
45phenylhydrazine4510.6EPO, HBG2
46no-dimethylhydroxylamine4510.6G6PD, HBG2
47de-oxy4510.5HBG2, HBB
48nitroglycerin45 1111.5HBG2, AHSP, TNFRSF11B
49folate4510.4G6PD, GATA1, TFRC, EPO
50mycophenolate mofetil45 50 1112.2EPO, UGT1A1, TFRC

GO Terms for genes affiliated with Beta Thalassemia

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
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Sources for 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