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, Thyroid, Endothelial, Pituitary, Skin, Myeloid, Breast, Spinal cord, Whole blood, Kidney, Brain, Colon

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
Beta-globin Gene Mutations in Turkish Children with Beta-Thalassemia: Results from a Single Center Study. (24106605)
2013
2
Nephrolithiasis in beta thalassemia major patients treated with deferasirox: an advent or an adverse event? A single Greek center experience. (22933235)
2013
3
Regional consensus opinion for the management of Beta thalassemia major in the Arabian Gulf area. (24044606)
2013
4
Compromising for carrier detection of beta thalassemia based on measurement of HbA2 levels in unusual cases. (22659060)
2012
5
Left ventricular rotational dynamics in Beta thalassemia major: a speckle-tracking echocardiographic study. (22898242)
2012
6
Control of human beta-globin mRNA stability and its impact on beta-thalassemia phenotype. (21357703)
2011
7
Hyperchloremic metabolic acidosis due to deferasirox in a patient with beta thalassemia major. (19934389)
2010
8
Correlation of beta-thalassemia mutations with alpha-thalassemia: an experience of the southwestern region of Iran. (21114907)
2010
9
Differences in response to fetal hemoglobin induction therapy in beta-thalassemia and sickle cell disease. (19346141)
2009
10
Fetal globin induction in beta-thalassemia. (20001626)
2009
11
Congenital thrombotic risk factors in beta-thalassemia. (18480081)
2009
12
Premature senescence of T lymphocytes from patients with beta-thalassemia major. (19118576)
2009
13
Alpha and beta thalassemia. (19678601)
2009
14
Sensitivity and specificity of mean corpuscular hemoglobin (MCH): for screening alpha-thalassemia-1 trait and beta-thalassemia trait. (19530577)
2009
15
Alpha globin gene numbers: an important modifier of HbE/beta thalassemia. (19843387)
2009
16
Moyamoya disease associated with hemoglobin Fairfax and beta-thalassemia. (18206795)
2008
17
Renal tubular dysfunction with nephrocalcinosis in a patient with beta thalassemia minor. (18974585)
2008
18
Early markers of renal dysfunction in patients with beta-thalassemia major. (18288499)
2008
19
Anemia in beta-thalassemia patients targets hepatic hepcidin transcript levels independently of iron metabolism genes controlling hepcidin expression. (18166793)
2008
20
Molecular analysis of beta-thalassemia intermedia in Guangdong Province]. (17706040)
2007
21
Early markers of renal dysfunction in patients with sickle cell/beta-thalassemia. (16501491)
2006
22
Elevated plasma chemokine CCL18/PARC in beta-thalassemia. (16137900)
2005
23
Sensitivity and specificity of mean corpuscular volume testing for screening for alpha-thalassemia-1 and beta-thalassemia traits. (15916654)
2005
24
The influence of uridine diphosphate glucuronosyl transferase 1A promoter polymorphisms, beta-globin gene haplotype, co-inherited alpha-thalassemia trait and Hb F on steady-state serum bilirubin levels in sickle cell anemia. (16004608)
2005
25
Beta-thalassemia mutations and single nucleotide polymorphism at -158 of Ggamma-globin gene associated with altered levels of Hb F in beta-thalassemia heterozygotes]. (15476181)
2004
26
Scanning of beta-globin gene for identification of beta-thalassemia mutation in Romanian population. (15256071)
2004
27
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
28
Sleep disruption and objective sleepiness in children with beta-thalassemia and congenital dyserythropoietic anemia. (12742882)
2003
29
The effect of hydroxyurea on the coagulation system in sickle cell anemia and beta-thalassemia intermedia patients: a preliminary study. (14631615)
2003
30
Validation of dHPLC for molecular diagnosis of beta-thalassemia in Southern Italy. (14642006)
2003
31
Bone histomorphometry in children and adolescents with beta-thalassemia disease: iron-associated focal osteomalacia. (12915694)
2003
32
Relationship between resistance to erythropoietin and high anomalous hemoglobin levels in hemodialysis patients with beta-thalassemia minor. (14586179)
2003
33
The beta+-IVS-I-6 (T-->C) mutation accounts for half of the thalassemia chromosomes in the Palestinian populations of the mountain regions. (11939510)
2002
34
Abrogation of macrocytosis in pernicious anemia by beta-thalassemia does not mask the diagnosis of vitamin B12 deficiency. (12221681)
2002
35
Reduction of the clinical severity of sickle cell/beta-thalassemia with hydroxyurea: the experience of a single center in Greece. (11112383)
2000
36
Molecular basis of asymptomatic beta-thalassemia major in an African American individual. (9056561)
1997
37
Administration of high doses of recombinant human erythropoietin to patients with beta-thalassemia intermedia: a preliminary trial. (9020369)
1997
38
Hemoglobin C/beta+ thalassemia and sarcoidosis. (7485093)
1995
39
A new case of thalassemia intermedia: interaction of a triplicated alpha-globin locus and beta-thalassemia trait. (1634369)
1992
40
Increase in spontaneous platelet aggregation in beta-thalassemia/hemoglobin E disease: a consequence of splenectomy. (1298991)
1992
41
Normal delta-globin gene sequences in Sardinian nondeletional delta beta-thalassemia. (1487421)
1992
42
Administration of erythropoietin to patients with beta-thalassemia intermedia: a preliminary trial. (1868247)
1991
43
Abnormality of von Willebrand factor in patients with hemoglobin E-beta (0) thalassemia. (2106777)
1990
44
Angioid streaks in homozygous beta thalassemia. (2801854)
1989
45
Oropharyngeal colonization with aerobic bacteria in beta-thalassemia/hemoglobin E disease. (3318952)
1987
46
Molecular analysis of deletion and nondeletion hereditary persistence of fetal hemoglobin and identification of a new mutation causing beta-thalassemia. (2409868)
1985
47
Beta thalassemia minor and cleidocranial dysplasia: a rare combination of genetic abnormalities in one family. (6929466)
1980
48
Symptomatic joint effusions in sickle cell-beta-thalassemia disease. Report of a case. (946491)
1976
49
Hemoglobin A2, E and F levels and the incidence of hemoglobin E, beta-thalassemia, and glucose-6-phosphate dehydrogenase deficiency in lymphoma. (4814776)
1974
50
The interaction of hereditary persistence of fetal hemoglobin and beta thalassemia. (5923089)
1966

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, GATA1, HBD, HBG1, HBB, HBE1
2
Hide members
10.5GATA1, HBD, HBG1, HBB, HBE1, HBG2
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 2412.0HBG2, TNFRSF11B, GATA1, HBB, HBG1, HBA2
2hydroxyurea44 49 1113.0HBG2, HBB, HBG1, HBA2, EPO, UGT1A1
3oxygen44 2412.0G6PD, PPBP, EPO, AHSP, HBD, HBA2
4heme28 11 2413.0HFE, HBD, HBG1, HBB, HBE1, HBG2
523-diphosphoglycerate4411.0G6PD, EPO, HBA2, HBB, HBG2
65-aminolevulinic acid44 2412.0GATA1, TFRC, HFE, HBG1, HBB
7azathioprine44 49 2 1114.0TNFRSF11B, G6PD, GATA1, EPO, HBG1, HBB
8benzidine4411.0HBB, HBG1, EPO, UGT1A1, TFRC
9porphobilinogen44 11 2413.0GATA1, TFRC, HBG1, HBB
10aspartate4411.0TNFRSF11B, G6PD, GATA1, TFRC, UGT1A1, HFE
11butyrate4410.9GATA1, TFRC, EPO, HBA2, HBG1, HBB
12leucine4410.9PPBP, GATA1, UGT1A1, TRIM22, HBA2, HBG1
13aclacinomycin4410.9GATA1, TFRC, HBG1
14s-nitrosocysteine4410.9AHSP, HBB, HBG2
15ascorbic acid44 2411.9TNFRSF11B, G6PD, TFRC, HFE, EPO, HBG2
16estrogen4410.9GATA1, TRIM22, AHSP
17deferoxamine44 1111.9TFR2, TFRC, EPO, HBG2
18iron dextran44 1111.9HBB, EPO, TFRC
19dmso4410.9G6PD, PPBP, GATA1, TFRC, HBB
20succinylacetone4410.9HBB, EPO, TFRC
21testosterone44 59 11 2413.9TNFRSF11B, G6PD, TFRC, UGT1A1, HFE, TRIM22
22lactate4410.9G6PD, PPBP, TFRC, EPO, HBB, HBG2
23neomycin4410.9HBB, HBG1, EPO, TRIM22
24zinc protoporphyrin4410.9EPO, TFRC, G6PD
25malondialdehyde4410.9G6PD, PPBP, EPO, HBG2
26chloramphenicol44 2 1112.9GATA1, UGT1A1, TRIM22, HBB, HBE1
27thymidine44 2411.9PPBP, TFRC, UGT1A1, EPO, HBA2, HBB
28nitric oxide44 11 2412.9TNFRSF11B, PPBP, TRIM22, AHSP, HBG1, HBB
29glucose 6-phosphate44 2411.9G6PD, UGT1A1, HBB, HBG2
30alanine4410.9PPBP, TFRC, UGT1A1, HFE, HBA2, HBB
31creatinine4410.8TNFRSF11B, G6PD, PPBP, TFRC, EPO, HBG2
32methylene4410.8G6PD, AHSP, HBG2
33lipid4410.8TNFRSF11B, G6PD, PPBP, HFE, CHIT1, TRIM22
34tyrosine4410.8TNFRSF11B, PPBP, TFRC, UGT1A1, HFE, TRIM22
35cytarabine44 49 1112.8HBG1, EPO, TFRC, GATA1
36sodium nitroprusside4410.8HBG2, AHSP, TFRC, G6PD
378-aminoquinoline4410.8G6PD, HBG2
38vitamin d4410.8TNFRSF11B, GATA1, TFRC, TRIM22, EPO
39fe2+4410.8HBG2, HFE, TFRC
40atp44 2811.7TNFRSF11B, G6PD, PPBP, TRIM22, AHSP, HBA2
41phenazine methosulfate4410.7G6PD, HBG2
42hemosiderin4410.7HFE, HBG2
43cysteine4410.7TNFRSF11B, PPBP, TFRC, HFE, AHSP, HBB
44doxorubicin44 49 1112.7TNFRSF11B, G6PD, GATA1, TFRC, HBG1
45phenylhydrazine4410.6EPO, HBG2
46no-dimethylhydroxylamine4410.6G6PD, HBG2
47de-oxy4410.5HBG2, HBB
48nitroglycerin44 1111.5HBG2, AHSP, TNFRSF11B
49folate4410.4G6PD, GATA1, TFRC, EPO
50mycophenolate mofetil44 49 1112.2EPO, UGT1A1, 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
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47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet