MCID: THL005
MIFTS: 72

Thalassemia malady

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

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47OMIM, 33MalaCards
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MalaCards: Thalassemia, also known as thalassemia hb-s disease without crisis, is related to beta thalassemia and hereditary persistence of fetal hemoglobin. An important gene associated with Thalassemia is ATRX (alpha thalassemia/mental retardation syndrome X-linked), and among its related pathways are Factors involved in megakaryocyte development and platelet production and Selenium Pathway. The compounds artesunate and aclacinomycin have been mentioned in the context of this disorder. Affiliated tissues include bone, liver and testes, and related mouse phenotypes are integument and liver/biliary system.

Description from OMIM:47 604131

Aliases & Classifications for Thalassemia

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8Disease Ontology, 43NIH Rare Diseases, 22GTR, 31LifeMap Discovery™, 62UMLS, 58SNOMED-CT, 40NCIt, 35MeSH, 27ICD9CM, 47OMIM
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Classifications:



Aliases & Descriptions:

thalassemia 8 43 22 31 62
thalassemia hb-s disease without crisis 8
sickle-cell thalassemia without crisis 8
thalassemia hb-s disease with crisis 8
sickle-cell thalassemia with crisis 8


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Disease Ontology8 DOID:10241
NCIt40 C35069
MeSH35 D013789
ICD9CM27 282.4
OMIM47 604131

Related Diseases for 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 Thalassemia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 283)
idRelated DiseaseScoreTop Affiliating Genes
1beta thalassemia31.8TF, TFRC, HBA2, HBB, HFE
2hereditary persistence of fetal hemoglobin31.2HBB
3hemoglobinopathy31.1HBS1L
4alpha thalassemia31.1GATA1, TF, TFRC, HFE, EPO, G6PD
5sickle cell anemia31.0G6PD, HBB, HBG1
6hepatitis30.9TFRC, UGT1A1, HFE
7hydrops fetalis30.8HBA2, HBB
8hemochromatosis30.7TF, TFRC, HFE
9iron deficiency anemia30.7TF, TFRC, G6PD, EPO, HFE
10hemoglobin h disease, nondeletional30.5HBA1, HBA2
11malaria30.5TFRC, HBA2, HBB, G6PD
12sickle cell disease30.5EPO, G6PD, HBB, HBA2, HBD, HBG1
13siderosis30.5HFE, TFRC, TF
14hemosiderosis30.4HFE, EPO, TF
15deficiency anemia30.3HFE, EPO, G6PD, HBB, HBA2, HBA1
16erythrocytosis30.3HBB, EPO
17favism30.3G6PD
18hereditary spherocytosis30.2TFRC, UGT1A1, G6PD, HFE
19myelodysplastic syndromes30.2TF, TFRC, ATRX, EPO, HFE, GATA1
20microcytic anemia30.2TF, TFRC, HBA2, G6PD, EPO
21pyruvate kinase deficiency30.1G6PD
22methemoglobinemia30.1G6PD
23splenomegaly30.0EPO, HBA2
24hypochromic microcytic anemia30.0HBB, TF
25hepatocellular carcinoma30.0HFE, HBB, UGT1A1, TF
26polycythemia vera30.0G6PD, EPO
27thrombocytopenia29.9EPO, HFE, GATA1
28porphyria29.9TF, HFE, GATA1
29porphyria cutanea tarda29.9HFE, TFRC, TF
30gilbert syndrome29.9UGT1A1
31polycythemia29.9TFRC, HBA2, HBB, G6PD, EPO
32hemolytic anemia29.9HBB, HBA2, UGT1A1, TFRC, TF, G6PD
33neonatal jaundice29.8UGT1A1, G6PD
34diabetes mellitus29.8TF, HBA1, HBA2, G6PD, HFE
35leukemia29.8TFRC, HBA2, HBB, EPO, HFE, GATA1
36congenital hemolytic anemia29.8TF, G6PD
37myelofibrosis29.7EPO, GATA1
38wilson disease29.7TF, G6PD, HFE
39bronchitis29.6HFE, EPO, TFRC, TF
40diabetic nephropathy29.6HFE, EPO, TFRC, TF
41hemoglobin e - beta-thalassemia10.6
42alpha-thalassemia x-linked intellectual disability syndrome10.6
43mental retardation10.5
44alpha-thalassemia/mental retardation syndrome10.5
45hemoglobin e disease10.5
46hepatitis c10.4
47hypertension10.4
48osteoporosis10.4
49thalassemia, hispanic gamma-delta-beta10.4
50hematopoietic stem cell transplantation10.4

Graphical network of the top 20 diseases related to Thalassemia:



Diseases related to thalassemia

Symptoms for Thalassemia

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47OMIM
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Clinical features from OMIM:

604131

Drugs & Therapeutics for Thalassemia

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discovery™
See all sources

Drug clinical trials:

Search ClinicalTrials for Thalassemia

Search NIH Clinical Center for Thalassemia

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Thalassemia cell therapies at LifeMap Discovery.

Genetic Tests for Thalassemia

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22GTR
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Genetic tests related to Thalassemia:

id Genetic test Affiliating Genes
1 Thalassemia22

Anatomical Context for Thalassemia

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33MalaCards
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MalaCards organs/tissues related to Thalassemia:

33
Bone, Liver, Testes, Bone marrow, Thyroid, Heart, Endothelial, Brain, Spleen, Pituitary, Kidney, Skeletal muscle, Spinal cord, Skin, Myeloid, T cells, Monocytes, Whole blood, Testis, Breast, Smooth muscle, Lung, Colon

Animal Models for Thalassemia or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Thalassemia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.3GATA1, EPO, HBB, HBA2, TFRC
2MP:00053708.1TFRC, HBB, EPO, HFE, GATA1
3MP:00053808.1TFRC, ATRX, HBB, G6PD, EPO, GATA1
4MP:00053857.8TFRC, ATRX, HBB, G6PD, EPO, GATA1
5MP:00053847.6TFRC, ATRX, HBA2, G6PD, EPO, HFE
6MP:00053787.3TF, TFRC, ATRX, HBA2, HBB, G6PD
7MP:00053977.0TF, TFRC, HBA2, HBB, G6PD, EPO
8MP:00053766.9TF, TFRC, HBA2, HBB, G6PD, EPO
9MP:00107686.2GATA1, TF, TFRC, ATRX, HBA1, HBA2

Publications for Thalassemia

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52PubMed
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Articles related to Thalassemia:

(show top 50)    (show all 2027)
idTitleAuthorsYear
1
Optimizing the Dose of Hydroxyurea Therapy for Patients with I^-Thalassemia Intermedia (Hb E-I^-thalassemia): A Single Center Study from Eastern India. (24144212)
2014
2
Fat-Soluble Antioxidant Vitamins, Iron Overload and Chronic Malnutrition in I^-Thalassemia Major. (24062266)
2013
3
Thyroid function status and echocardiographic abnormalities in patients with Beta thalassemia major in bahrain. (23400522)
2013
4
Hemoglobin SO-Arab and I+-thalassemia diagnosed in an adult: A case-based review of the hemoglobinopathies. (23221516)
2013
5
Variable Genotype-Phenotype Correlations in Patients With a Rare Nondeletional I+-thalassemia; Hb Pak Num Po (HBA1: c.396_397insT). (24136020)
2013
6
Beta-globin Gene Mutations in Turkish Children with Beta-Thalassemia: Results from a Single Center Study. (24106605)
2013
7
Macrophages support pathological erythropoiesis in polycythemia vera and I^-thalassemia. (23502961)
2013
8
Nondeletional I+-Thalassemia (I+2- IVS-1-116, A>G HBA2): An I+2 Gene Point Mutation Detected in an African-American Female for the First Time. (24356242)
2013
9
A 2-year-old girl with co-inherited cystic fibrosis and sickle cell-I^+ thalassemia presenting with recurrent vaso-occlusive events during cystic fibrosis pulmonary exacerbations: a case report. (23890029)
2013
10
Quality of life among children with beta-thalassemia major treated in Western Saudi Arabia. (24343469)
2013
11
Intrafamilial transmission of hepatitis C infection in Egyptian multitransfused thalassemia patients. (23542535)
2013
12
Early detection of cardiac involvement in thalassemia: From bench to bedside perspective. (24009816)
2013
13
Frequency and distribution of asymptomatic brain lesions in patients with I^-thalassemia intermedia. (22824997)
2012
14
I'0-Thalassemia in cis of I^Knossos globin gene: first homozygous description in thalassemia intermedia Libyans and first combination with codon 39 (Ca89T) in thalassemia intermedia Tunisian patients. (23089702)
2012
15
Co-inheritance of HbD (Iran)/Beta Thalassemia IVS1-5 (GA >A C) Trait in a Punjabi Lady with Diabetes. (23543793)
2012
16
Hemoglobin Showa-Yakushiji: a common I^ thalassemia mutation among the Agri community from western India. (22283879)
2012
17
Detection of common deletional alpha-thalassemia spectrum by molecular technique in kelantan, northeastern malaysia. (22888447)
2012
18
The XmnI and BCL11A single nucleotide polymorphisms may help predict hydroxyurea response in Iranian I^-thalassemia patients. (22686296)
2012
19
Myelofibrosis: a cause of increased transfusion requirement in a child with I^-thalassemia intermedia. (22009011)
2012
20
Cerebral fat embolism syndrome in sickle cell anaemia/I^-thalassemia: Importance of susceptibility-weighted MRI. (22608248)
2012
21
Molecular basis of I^-thalassemia in the western province of Saudi Arabia: identification of rare I^-thalassemia mutations. (21797702)
2011
22
A case report of concomitant paroxysmal nocturnal hemoglobinuria and heterozygous I^-thalassemia. (20556389)
2011
23
Familial Mediterranean fever with a single MEFV mutation: can a deletion resulting in I+-thalassemia be the cause? (21179105)
2011
24
Osteomyelitis and pyomyositis due to Pseudomonas aeruginosa in a child with sickle I^a8^-thalassemia. (21792030)
2011
25
Nucleated red blood cells and soluble transferrin receptor in thalassemia syndromes: relationship with global and ineffective erythropoiesis. (19824799)
2009
26
Prenatal diagnosis of sickle cell anemia and beta-thalassemia in southern Turkey. (19065329)
2008
27
Hemoglobin profiles and hematologic features of thalassemic newborns: application to screening of alpha-thalassemia 1 and hemoglobin E. (18976009)
2008
28
Circulating osteoprotegerin and receptor activator of NF-kappaB ligand system in patients with beta-thalassemia major. (17187195)
2007
29
Bloodless surgery in a patient with thalassemia minor. Usefulness of erythropoietin, preoperative blood donation and intraoperative blood salvage. (17529923)
2007
30
Screening for inherited thrombophilia might be warranted among Eastern Mediterranean sickle-beta-0 thalassemia patients. (17008978)
2006
31
HFE gene mutations in Tunisian major beta-Thalassemia and iron overload]. (17303462)
2006
32
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
33
Study of serum zinc in relation to nutritional status among thalassemia patients in Damanhour Medical National Institute. (17219912)
2003
34
Hypoparathyroidism with extensive intracerebral calcification in patients with beta-thalassemia major. (12948301)
2003
35
Using reticulocyte indices to identify alpha-thalassemia--a preliminary report. (12971500)
2002
36
Rapid differentiation of five common alpha-thalassemia genotypes by polymerase chain reaction. (11283524)
2001
37
Hb Bart's levels in cord blood and alpha-thalassemia mutations in Cyprus. (10975437)
2000
38
Single-tube multiplex-PCR screen for common deletional determinants of alpha-thalassemia. (10607725)
2000
39
Identification of glucose 6-phosphate dehydrogenase deficiency in a population with a high frequency of thalassemia. (10648829)
2000
40
Premarital screening of beta-thalassemia trait in the province of Denizli, Turkey. (11111119)
2000
41
Hydrops fetalis caused by alpha-thalassemia: an emerging health care problem. (9516118)
1998
42
Recombinant human erythropoietin for anaemia in nephrotic syndrome with thalassemia. (9128797)
1997
43
Effect of alpha-thalassemia and beta-globin gene cluster haplotypes on the hematological and clinical features of sickle-cell anemia in Brazil. (8892730)
1996
44
Treatment of beta-thalassemia with hydroxyurea (HU)--effects of HU on globin gene expression. (7865126)
1994
45
Comparison of the pharmacokinetics of 1,2-dimethyl-3-hydroxypyrid-4-one (L1) in healthy volunteers, with and without co-administration of ferrous sulfate, to thalassemia patients. (8314362)
1993
46
Clinico-radiological correlation in thalassemia intermedia]. (8327757)
1993
47
Acute Wilson's disease and thalassemia minor: a case report. (6741909)
1984
48
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
49
Homozygous hemoglobin E mimics beta-thalassemia minor without anemia or hemolysis: hematologic, functional, and biosynthetic studies of first North American cases. (7395858)
1980
50
IRON BALANCE IN THALASSEMIA MINOR. A PRELIMINARY REPORT. (14219439)
1964

Variations for Thalassemia

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Expression for genes affiliated with Thalassemia

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

Search GEO for disease gene expression data for Thalassemia.

Pathways for genes affiliated with Thalassemia

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50PathCards, 55Reactome, 38NCBI BioSystems Database, 30KEGG
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Compounds for genes affiliated with Thalassemia

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45Novoseek, 51PharmGKB, 24HMDB, 11DrugBank, 3BitterDB, 29IUPHAR, 61Tocris Bioscience
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Compounds related to Thalassemia according to GeneCards/GeneDecks:

(show top 50)    (show all 92)
idCompoundScoreTop Affiliating Genes
1artesunate45 5110.7G6PD, TFRC
2aclacinomycin459.6GATA1, HBG1, TFRC
3aluminium citrate459.5TFRC, TF
4gallium459.4TFRC, TF
5neomycin459.4HBG1, EPO, HBB
623-diphosphoglycerate459.4HBA2, G6PD, HBB, EPO
7recormon459.4EPO, TF
8ferric gluconate459.4EPO, TF
9glyceraldehyde 3-phosphate459.3G6PD, HBB, HBG1, TFRC
10porphobilinogen45 24 1111.3TFRC, GATA1, HBB, HBG1
11chloramphenicol45 3 51 1112.3GATA1, G6PD, UGT1A1, HBB
12methylcellulose459.3TFRC, HBG1, EPO
13iron sucrose459.3EPO, TF
14dmso459.3GATA1, HBB, G6PD, TFRC
15bismuth45 2410.2TF, TFRC
16mycophenolate mofetil45 51 1111.2EPO, TFRC, UGT1A1
17apotransferrin459.1TF, TFRC
18fe2+459.1TF, TFRC, HFE
19leucine459.0GATA1, HBB, UGT1A1, HBG1, HBA2
205-aminolevulinic acid45 2410.0HFE, GATA1, TFRC, HBB, HBG1
21ribavirin45 51 1111.0G6PD, TF, EPO
22zinc45 2410.0HBB, HFE, GATA1, ATRX, HBG1
23deferiprone458.9TF, EPO, TFRC
24aluminium45 119.9TFRC, EPO, TF
25cytarabine45 51 1110.9GATA1, EPO, TFRC, HBG1
26azathioprine45 3 51 1111.9G6PD, GATA1, EPO, HBB, HBG1
27protoporphyrin ix45 24 1110.9TF, TFRC, EPO
28tamoxifen45 51 29 1111.9TF, G6PD, HBB, UGT1A1
29deferoxamine45 119.8TF, TFRC, EPO
30polyethylene glycol458.8G6PD, TFRC, TF
31benzidine458.8HBG1, HBB, UGT1A1, TFRC, EPO
32chloroquine45 3 51 29 1112.7G6PD, TF, TFRC
33thymidine45 249.7HBB, HBA2, UGT1A1, EPO, TFRC
34succinylacetone458.7TF, EPO, TFRC, HBB
35phenobarbital45 29 51 1111.6TF, UGT1A1, G6PD
36zinc protoporphyrin458.6G6PD, TFRC, TF, EPO
37vitamin b12458.6EPO, TFRC, TF, G6PD
38testosterone45 61 24 1111.5HFE, EPO, UGT1A1, G6PD, TFRC
39butyrate458.4HBB, GATA1, TFRC, EPO, HBA2, HBG1
40heme29 24 1110.3HBB, HFE, HBA1, HBD, HBG1, TF
41lactate458.3EPO, G6PD, TF, TFRC, HBB
42oxygen45 249.2G6PD, HBB, HBG1, HBD, EPO, HBA1
43ascorbic acid45 249.2TF, HFE, EPO, G6PD, TFRC
44iron dextran45 119.2TFRC, HBB, TF, HBA1, EPO
45alanine458.2HBB, HBA2, UGT1A1, TFRC, HFE, TF
46folate458.1GATA1, EPO, G6PD, TFRC, TF
47hydroxyurea45 51 1110.0UGT1A1, GATA1, EPO, HBB, HBG1, HBA2
48estrogen457.7TFRC, UGT1A1, HFE, GATA1, G6PD, TF
49aspartate457.1TF, TFRC, HBB, UGT1A1, GATA1, HFE
50iron45 247.7HBG1, HBB, HBA1, TFRC, HBA2, EPO

GO Terms for genes affiliated with Thalassemia

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

idNameGO IDScoreTop Affiliating Genes
1haptoglobin-hemoglobin complexGO:03183810.0HBA2, HBB
2endocytic vesicle lumenGO:0716829.6HBB, HBA2
3hemoglobin complexGO:0058339.5HBG1, HBD, HBA2, HBB
4basal part of cellGO:0451789.3HFE, TF
5blood microparticleGO:0725628.4TF, HBB, HBA2, HBD, TFRC
6extracellular regionGO:0055768.0HBB, HBA2, TFRC, TF, EPO
7extracellular vesicular exosomeGO:0700627.9TF, TFRC, HBS1L, HBA2, HBB, G6PD

Biological processes related to Thalassemia according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1oxygen transportGO:01567110.1HBB, HBA2
2hydrogen peroxide catabolic processGO:04274410.0HBB, HBA2
3positive regulation of cell deathGO:0109429.9HBB, HBA2
4response to hydrogen peroxideGO:0425429.9HBB, HBA2
5bicarbonate transportGO:0157019.8HBA2, HBB
6oxidation-reduction processGO:0551149.7HBA2, HBB, G6PD
7erythrocyte maturationGO:0432499.7EPO, G6PD
8cellular iron ion homeostasisGO:0068799.0TF, TFRC, HFE
9transferrin transportGO:0335728.8TFRC, TF
10blood coagulationGO:0075968.6GATA1, HBB, HBD, HBG1, TF

Molecular functions related to Thalassemia according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1haptoglobin bindingGO:0317209.8HBB, HBA2
2peroxidase activityGO:0046019.6HBA2, HBB
3oxygen transporter activityGO:0053449.5HBB, HBA2, HBD, HBG1
4oxygen bindingGO:0198259.4HBG1, HBD, HBA2, HBB
5heme bindingGO:0200379.4HBB, HBA2, HBD, HBG1
6iron ion bindingGO:0055069.3HBG1, HBD, HBA2, HBB
7protein bindingGO:0055156.6TFRC, ATRX, HBA2, HBB, G6PD, EPO

Products for genes affiliated with Thalassemia

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Sources for Thalassemia

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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