MCID: THL005
MIFTS: 72

Thalassemia malady

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

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MalaCards based summary: Thalassemia, also known as thalassemia hb-s disease without crisis, is related to hereditary persistence of fetal hemoglobin and hemoglobinopathy. 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:46 604131

Aliases & Classifications for Thalassemia

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Thalassemia, Aliases & Descriptions:

Name: Thalassemia 30 8 42 22 62
Thalassemia Hb-S Disease Without Crisis 8 62
Sickle-Cell Thalassemia Without Crisis 8 62
 
Thalassemia Hb-S Disease with Crisis 8 62
Sickle-Cell Thalassemia with Crisis 8 62


Classifications:

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


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Disease Ontology8 DOID:10241
OMIM46 604131
MeSH34 D013789
ICD9CM27 282.4
NCIt39 C35069

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

(show top 50)    (show all 282)
idRelated DiseaseScoreTop Affiliating Genes
1hereditary persistence of fetal hemoglobin31.8HBB
2hemoglobinopathy31.8HBS1L
3beta thalassemia31.5HFE, HBB, TF, TFRC, HBA2
4hydrops fetalis31.3HBA2, HBB
5sickle cell anemia31.0HBA2, HBS1L, HBD, HBA1, HBB
6alpha thalassemia31.0HFE, G6PD, HBB, HBA1, HBA2, HBG1
7hepatitis30.9TFRC, UGT1A1, HFE
8hemoglobin h disease, nondeletional30.9HBA2, HBA1
9favism30.9G6PD
10pyruvate kinase deficiency30.8G6PD
11methemoglobinemia30.7G6PD
12malaria30.7HBA2, TFRC, HBB, G6PD
13gilbert syndrome30.7UGT1A1
14hemochromatosis30.6TF, HFE, TFRC
15erythrocytosis30.6HBB, EPO
16siderosis30.5TFRC, HFE, TF
17hemosiderosis30.3TF, HFE, EPO
18splenomegaly30.3EPO, HBA2
19hypochromic microcytic anemia30.3TF, HBB
20neonatal jaundice30.2UGT1A1, G6PD
21hereditary spherocytosis30.2TFRC, HFE, UGT1A1, G6PD
22iron deficiency anemia30.2TF, TFRC, EPO, HFE, G6PD
23thrombocytopenia30.1EPO, GATA1, HFE
24polycythemia vera30.1G6PD, EPO
25congenital hemolytic anemia30.0G6PD, TF
26porphyria29.9GATA1, HFE, TF
27porphyria cutanea tarda29.9TFRC, TF, HFE
28myelofibrosis29.8GATA1, EPO
29microcytic anemia29.8G6PD, HBA2, TFRC, TF, EPO
30wilson disease29.8HFE, G6PD, TF
31acute lymphoblastic leukemia29.7UGT1A1, HFE, G6PD, GATA1
32polycythemia29.7HBB, TFRC, HBA2, G6PD, EPO
33myelodysplastic syndromes29.5EPO, TFRC, HFE, GATA1, ATRX, TF
34sickle cell disease29.4EPO, G6PD, HBB, HBA2, HBD, HBG1
35diabetes mellitus29.4HFE, G6PD, HBA2, HBA1, TF
36leukemia29.4TFRC, GATA1, HFE, EPO, HBB, HBA2
37diabetic nephropathy29.2TF, HFE, EPO, TFRC
38hemolytic anemia28.9HFE, EPO, G6PD, HBB, HBA2, UGT1A1
39deficiency anemia28.8GATA1, HFE, EPO, G6PD, HBB, HBA2
40hemoglobin e - beta-thalassemia10.6
41alpha-thalassemia x-linked intellectual disability syndrome10.6
42mental retardation10.6
43delta-beta thalassemia10.6
44alpha-thalassemia/mental retardation syndrome10.5
45heinz body anemia10.5HBA2
46hemoglobin e disease10.5
47lysinuric protein intolerance10.5G6PD
48hypertension10.5
49hepatitis c10.4
50osteoporosis10.4

Graphical network of the top 20 diseases related to Thalassemia:



Diseases related to thalassemia

Symptoms for Thalassemia

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Clinical features from OMIM:

604131

Drugs & Therapeutics for Thalassemia

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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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Genetic tests related to Thalassemia:

id Genetic test Affiliating Genes
1 Thalassemia22

Anatomical Context for Thalassemia

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MalaCards organs/tissues related to Thalassemia:

32
Bone, Liver, Testes, Bone marrow, Thyroid, Endothelial, Heart, Spleen, Brain, Neutrophil, Pituitary, Spinal cord, Skeletal muscle, Kidney, Skin, Myeloid, Whole blood, Smooth muscle, Colon, Lung, Breast, Testis, Monocytes, T cells

Animal Models for Thalassemia or affiliated genes

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MGI Mouse Phenotypes related to Thalassemia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.3EPO, HBB, HBA2, TFRC, GATA1
2MP:00053708.1HBB, EPO, HFE, GATA1, TFRC
3MP:00053808.1GATA1, EPO, G6PD, HBB, ATRX, TFRC
4MP:00053857.8G6PD, GATA1, TFRC, ATRX, HBB, EPO
5MP:00053847.6GATA1, HFE, EPO, G6PD, HBA2, ATRX
6MP:00053787.3HBB, HBA2, ATRX, TFRC, TF, G6PD
7MP:00053977.0GATA1, HFE, EPO, G6PD, HBB, HBA2
8MP:00053766.9G6PD, HBB, HBA2, TFRC, TF, EPO
9MP:00107686.2GATA1, TF, TFRC, ATRX, HBA1, HBA2

Publications for Thalassemia

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Articles related to Thalassemia:

(show top 50)    (show all 2110)
idTitleAuthorsYear
1
Characterization of two unique I+-globin gene cluster deletions causing I+-thalassemia in Israeli Arabs. (25222045)
2014
2
Benefits of chronic blood transfusion in hemoglobin E/I^ thalassemia with pulmonary arterial hypertension. (25170276)
2014
3
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
4
Fat-Soluble Antioxidant Vitamins, Iron Overload and Chronic Malnutrition in I^-Thalassemia Major. (24062266)
2013
5
Thyroid function status and echocardiographic abnormalities in patients with Beta thalassemia major in bahrain. (23400522)
2013
6
Hemoglobin SO-Arab and I+-thalassemia diagnosed in an adult: A case-based review of the hemoglobinopathies. (23221516)
2013
7
Variable Genotype-Phenotype Correlations in Patients With a Rare Nondeletional I+-thalassemia; Hb Pak Num Po (HBA1: c.396_397insT). (24136020)
2013
8
Beta-globin Gene Mutations in Turkish Children with Beta-Thalassemia: Results from a Single Center Study. (24106605)
2013
9
Macrophages support pathological erythropoiesis in polycythemia vera and I^-thalassemia. (23502961)
2013
10
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
11
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
12
Quality of life among children with beta-thalassemia major treated in Western Saudi Arabia. (24343469)
2013
13
Intrafamilial transmission of hepatitis C infection in Egyptian multitransfused thalassemia patients. (23542535)
2013
14
Early detection of cardiac involvement in thalassemia: From bench to bedside perspective. (24009816)
2013
15
Frequency and distribution of asymptomatic brain lesions in patients with I^-thalassemia intermedia. (22824997)
2012
16
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
17
Co-inheritance of HbD (Iran)/Beta Thalassemia IVS1-5 (GA >A C) Trait in a Punjabi Lady with Diabetes. (23543793)
2012
18
Hemoglobin Showa-Yakushiji: a common I^ thalassemia mutation among the Agri community from western India. (22283879)
2012
19
Detection of common deletional alpha-thalassemia spectrum by molecular technique in kelantan, northeastern malaysia. (22888447)
2012
20
The XmnI and BCL11A single nucleotide polymorphisms may help predict hydroxyurea response in Iranian I^-thalassemia patients. (22686296)
2012
21
Myelofibrosis: a cause of increased transfusion requirement in a child with I^-thalassemia intermedia. (22009011)
2012
22
Cerebral fat embolism syndrome in sickle cell anaemia/I^-thalassemia: Importance of susceptibility-weighted MRI. (22608248)
2012
23
Molecular basis of I^-thalassemia in the western province of Saudi Arabia: identification of rare I^-thalassemia mutations. (21797702)
2011
24
A case report of concomitant paroxysmal nocturnal hemoglobinuria and heterozygous I^-thalassemia. (20556389)
2011
25
Familial Mediterranean fever with a single MEFV mutation: can a deletion resulting in I+-thalassemia be the cause? (21179105)
2011
26
Osteomyelitis and pyomyositis due to Pseudomonas aeruginosa in a child with sickle I^a8^-thalassemia. (21792030)
2011
27
Nucleated red blood cells and soluble transferrin receptor in thalassemia syndromes: relationship with global and ineffective erythropoiesis. (19824799)
2009
28
Prenatal diagnosis of sickle cell anemia and beta-thalassemia in southern Turkey. (19065329)
2008
29
Hemoglobin profiles and hematologic features of thalassemic newborns: application to screening of alpha-thalassemia 1 and hemoglobin E. (18976009)
2008
30
Circulating osteoprotegerin and receptor activator of NF-kappaB ligand system in patients with beta-thalassemia major. (17187195)
2007
31
Bloodless surgery in a patient with thalassemia minor. Usefulness of erythropoietin, preoperative blood donation and intraoperative blood salvage. (17529923)
2007
32
Screening for inherited thrombophilia might be warranted among Eastern Mediterranean sickle-beta-0 thalassemia patients. (17008978)
2006
33
HFE gene mutations in Tunisian major beta-Thalassemia and iron overload]. (17303462)
2006
34
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
35
Study of serum zinc in relation to nutritional status among thalassemia patients in Damanhour Medical National Institute. (17219912)
2003
36
Using reticulocyte indices to identify alpha-thalassemia--a preliminary report. (12971500)
2002
37
Rapid differentiation of five common alpha-thalassemia genotypes by polymerase chain reaction. (11283524)
2001
38
Hb Bart's levels in cord blood and alpha-thalassemia mutations in Cyprus. (10975437)
2000
39
Single-tube multiplex-PCR screen for common deletional determinants of alpha-thalassemia. (10607725)
2000
40
Identification of glucose 6-phosphate dehydrogenase deficiency in a population with a high frequency of thalassemia. (10648829)
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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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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Compounds for genes affiliated with Thalassemia

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Compounds related to Thalassemia according to GeneCards/GeneDecks:

(show top 50)    (show all 92)
idCompoundScoreTop Affiliating Genes
1artesunate44 5010.7G6PD, TFRC
2aclacinomycin449.6GATA1, HBG1, TFRC
3aluminium citrate449.5TFRC, TF
4gallium449.4TFRC, TF
5neomycin449.4HBG1, EPO, HBB
623-diphosphoglycerate449.4HBA2, G6PD, HBB, EPO
7recormon449.4EPO, TF
8ferric gluconate449.4EPO, TF
9glyceraldehyde 3-phosphate449.3G6PD, HBB, HBG1, TFRC
10porphobilinogen44 24 1111.3TFRC, GATA1, HBB, HBG1
11chloramphenicol44 2 50 1112.3GATA1, G6PD, UGT1A1, HBB
12methylcellulose449.3TFRC, HBG1, EPO
13iron sucrose449.3EPO, TF
14dmso449.3GATA1, HBB, G6PD, TFRC
15bismuth44 2410.2TF, TFRC
16mycophenolate mofetil44 50 1111.2EPO, TFRC, UGT1A1
17apotransferrin449.1TF, TFRC
18fe2+449.1TF, TFRC, HFE
19leucine449.0GATA1, HBB, UGT1A1, HBG1, HBA2
205-aminolevulinic acid44 2410.0HFE, GATA1, TFRC, HBB, HBG1
21ribavirin44 50 1111.0G6PD, TF, EPO
22zinc44 2410.0HBB, HFE, GATA1, ATRX, HBG1
23deferiprone448.9TF, EPO, TFRC
24aluminium44 119.9TFRC, EPO, TF
25cytarabine44 50 1110.9GATA1, EPO, TFRC, HBG1
26azathioprine44 2 50 1111.9G6PD, GATA1, EPO, HBB, HBG1
27protoporphyrin ix44 24 1110.9TF, TFRC, EPO
28tamoxifen44 50 28 1111.9TF, G6PD, HBB, UGT1A1
29deferoxamine44 119.8TF, TFRC, EPO
30polyethylene glycol448.8G6PD, TFRC, TF
31benzidine448.8HBG1, HBB, UGT1A1, TFRC, EPO
32chloroquine44 2 50 28 1112.7G6PD, TF, TFRC
33thymidine44 249.7HBB, HBA2, UGT1A1, EPO, TFRC
34succinylacetone448.7TF, EPO, TFRC, HBB
35phenobarbital44 28 50 1111.6TF, UGT1A1, G6PD
36zinc protoporphyrin448.6G6PD, TFRC, TF, EPO
37vitamin b12448.6EPO, TFRC, TF, G6PD
38testosterone44 61 24 1111.5HFE, EPO, UGT1A1, G6PD, TFRC
39butyrate448.4HBB, GATA1, TFRC, EPO, HBA2, HBG1
40heme28 24 1110.3HBB, HFE, HBA1, HBD, HBG1, TF
41lactate448.3EPO, G6PD, TF, TFRC, HBB
42oxygen44 249.2G6PD, HBB, HBG1, HBD, EPO, HBA1
43ascorbic acid44 249.2TF, HFE, EPO, G6PD, TFRC
44iron dextran44 119.2TFRC, HBB, TF, HBA1, EPO
45alanine448.2HBB, HBA2, UGT1A1, TFRC, HFE, TF
46folate448.1GATA1, EPO, G6PD, TFRC, TF
47hydroxyurea44 50 1110.0UGT1A1, GATA1, EPO, HBB, HBG1, HBA2
48estrogen447.7TFRC, UGT1A1, HFE, GATA1, G6PD, TF
49aspartate447.1TF, TFRC, HBB, UGT1A1, GATA1, HFE
50iron44 247.7HBG1, HBB, HBA1, TFRC, HBA2, EPO

GO Terms for genes affiliated with Thalassemia

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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:04274410.0HBA2, HBB
3positive regulation of cell deathGO:0109429.9HBB, HBA2
4response to hydrogen peroxideGO:0425429.9HBA2, HBB
5bicarbonate transportGO:0157019.8HBA2, HBB
6oxidation-reduction processGO:0551149.7HBB, G6PD, HBA2
7erythrocyte maturationGO:0432499.7G6PD, EPO
8cellular iron ion homeostasisGO:0068799.0HFE, TF, TFRC
9transferrin transportGO:0335728.8TF, TFRC
10blood coagulationGO:0075968.6TF, HBG1, GATA1, HBB, HBD

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:0198259.4HBB, HBG1, HBD, HBA2
5heme bindingGO:0200379.4HBB, HBA2, HBG1, HBD
6iron ion bindingGO:0055069.3HBG1, HBD, HBA2, HBB
7protein bindingGO:0055156.6TF, GATA1, HFE, EPO, G6PD, HBA2

Products for genes affiliated with Thalassemia

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Sources for Thalassemia

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3CDC
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14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
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36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
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47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet