MCID: THL005
MIFTS: 68

Thalassemia malady

Blood diseases category

Summaries for Thalassemia

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46OMIM, 32MalaCards
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MalaCards: Thalassemia, also known as thalassemia hb-s disease without crisis, is related to beta thalassemia and alpha thalassemia. An important gene associated with Thalassemia is ATRX (alpha thalassemia/mental retardation syndrome X-linked), and among its related pathways are Platelet activation, signaling and aggregation and Factors involved in megakaryocyte development and platelet production. The compounds iron and heme have been mentioned in the context of this disorder. Affiliated tissues include bone, liver and testes, and related mouse phenotypes are mortality/aging and hematopoietic system.

Description from OMIM:46 604131

Aliases & Classifications for Thalassemia

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8Disease Ontology, 42NIH Rare Diseases, 22GTR, 30LifeMap Discovery™, 60UMLS, 56SNOMED-CT, 46OMIM, 27ICD9CM, 34MeSH, 39NCIt
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Classifications:

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


Aliases & Descriptions:

thalassemia 8 42 22 30 60
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
OMIM46 604131
ICD9CM27 282.4
MeSH34 D013789
NCIt39 C35069

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 265)
idRelated DiseaseScoreTop Affiliating Genes
1beta thalassemia31.9TF, TFRC, HFE, HBA2, HBB
2alpha thalassemia31.7HBZ
3sickle cell disease30.9HBG2, HBB, HBG1, HBA2, HBD, EPO
4sickle cell anemia30.9HBB, HBG1, G6PD
5deficiency anemia30.8HBG2, HBE1, HBA1, HBB, HBG1, HBA2
6hemoglobinopathy30.8HBS1L
7iron deficiency anemia30.8G6PD, TF, TFRC, HFE, EPO, HBG2
8hepatitis30.8TFRC, UGT1A1, HFE, HBE1
9hemochromatosis30.7TF, TFRC, HFE
10hepatitis c30.6HFE, TF
11siderosis30.5HFE, TFRC, TF
12microcytic anemia30.5G6PD, TF, TFRC, EPO, HBA2
13malaria30.4HBB, HBA2, TFRC, G6PD
14hemosiderosis30.4EPO, HFE, TF
15alpha-thalassemia/mental retardation syndrome30.3ATRX
16hepatitis a30.3HBE1
17hypochromic microcytic anemia30.2TF, HBB
18hypogonadism30.2HFE, TF
19hemolytic anemia30.2TF, G6PD, TFRC, UGT1A1, HBG2, HBB
20hereditary spherocytosis30.2G6PD, TFRC, UGT1A1, HFE
21cholelithiasis30.2UGT1A1
22thalassemia-beta, dominant inclusion-body30.1HBB, HBBP1
23viral hepatitis30.1HFE, G6PD
24hepatocellular carcinoma30.0TF, UGT1A1, HFE, HBB, HBE1
25favism30.0G6PD
26ischemia30.0AHSP
27leukemia29.9GATA1, TFRC, HFE, EPO, HBA2, HBB
28diabetes mellitus29.9HBA1, HBA2, HFE, TF, G6PD
29polycythemia29.9G6PD, TFRC, EPO, HBA2, HBB
30porphyria29.9HFE, TF, GATA1
31porphyria cutanea tarda29.9HFE, TFRC, TF
32methemoglobinemia29.9HBG2, G6PD
33thalassemias, beta-29.9HBBP1, HBB
34atherosclerosis29.9AHSP, G6PD
35polycythemia vera29.9G6PD, EPO
36cystic fibrosis29.9HBB
37bronchitis29.6TF, TFRC, HFE, EPO
38diabetic nephropathy29.6TF, TFRC, HFE, EPO
39hydrops fetalis29.6HBA2, HBB
40acute leukemia29.6GATA1, TFRC, HFE, EPO, HBA2
41congenital hemolytic anemia29.6TF, G6PD
42wilson disease29.6HFE, TF, G6PD
43gilbert syndrome29.6UGT1A1, G6PD
44sarcoma29.6HBA1, HBA2
45hemoglobinuria29.6G6PD
46klinefelter's syndrome29.6HBB
47nephrotic syndrome29.6TF, TFRC
48neonatal jaundice29.6G6PD, UGT1A1
49myelofibrosis29.6EPO, GATA1
50alpha-thalassemia x-linked intellectual disability syndrome10.5

Graphical network of the top 20 diseases related to Thalassemia:



Diseases related to thalassemia

Clinical Features for Thalassemia

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46OMIM
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Clinical features from OMIM:

604131

Drugs & Therapeutics for Thalassemia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 30LifeMap Discovery™
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Approved drugs:

Search CenterWatch for Thalassemia

Drug clinical trials:

Search ClinicalTrials for Thalassemia

Search NIH Clinical Center for Thalassemia

Search CenterWatch 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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32MalaCards
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MalaCards organs/tissues related to Thalassemia:

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

Animal Models for Thalassemia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Thalassemia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:001076811.2GATA1, TF, TFRC, ATRX, HFE, EPO
2MP:000539710.8HBB, G6PD, GATA1, TF, TFRC, HFE

Publications for Thalassemia

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Sources:
50PubMed
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Articles related to Thalassemia:

(show top 50)    (show all 2046)
idTitleAuthorsYear
1
Acquired alpha thalassemia associated with erythroleukemia. (23760802)
2014
2
Early detection of cardiac involvement in thalassemia: From bench to bedside perspective. (24009816)
2013
3
The changing epidemiology of I^-thalassemia in the Greek-Cypriot population. (24006929)
2013
4
Alpha thalassemia gene mutations in neonates from Mazandaran, Iran, 2012. (24074530)
2013
5
Role of curcuminoids in ameliorating oxidative modification in I^-thalassemia/Hb E plasma proteome. (22818714)
2013
6
Therapeutic superiority and safety of combined hydroxyurea with recombinant human erythropoietin over hydroxyurea in young I^-thalassemia intermedia patients. (23927461)
2013
7
Effect of a group of genetic markers around the 5' regulatory regions of the I^ globin gene cluster linked to high HbF on the clinical severity of I^ thalassemia. (23211376)
2013
8
Molecular basis of transfusion dependent beta-thalassemia major patients in Sabah. (24369358)
2013
9
Comparisons between RT-PCR, real-time PCR, and in vitro globin chain synthesis by I+/I^ ratio calculation for diagnosis of I+- from I^-thalassemia carriers. (23496364)
2013
10
Evaluation of tissue doppler echocardiography and T2* magnetic resonance imaging in iron load of patients with thalassemia major. (24009962)
2013
11
Comparative assessment of deferiprone and deferasirox in thalassemia major patients in the first two decades-single centre experience. (23363369)
2013
12
Depression in subjects with beta-thalassemia minor. (23892926)
2013
13
Comparison of capillary electrophoregram among heterozygous Hb Hope, Hb Hope/I+-thalassemia-1 SEA type deletion and Hb Hope/I^(0)-thalassemia. (22962223)
2012
14
Preimplantation diagnosis for I^-thalassemia combined with HLA matching: first "savior sibling" is born after embryo selection in Brazil. (23015159)
2012
15
Thyroid cancer in I^-thalassemia. (22680613)
2012
16
Alpha-thalassemia protects against cerebrovascular disease in children with sickle cell anemia. (22899043)
2012
17
Obstructive sleep apnea among children with severe beta-thalassemia. (23082566)
2012
18
I^-Thalassemia: medical and surgical considerations in managing facial deformities: case report and review of the literature. (22305871)
2012
19
Molecular basis and prenatal diagnosis of I^-thalassemia among Balouch population in Iran. (21692087)
2011
20
Six-year outcome of the national premarital screening and genetic counseling program for sickle cell disease and I^-thalassemia in Saudi Arabia. (21623050)
2011
21
The first case of X-linked Alpha-thalassemia/mental retardation (ATR-X) syndrome in Korea. (21218045)
2011
22
Analysis of cosegregation of intragenic DNA sequence variations as markers of maternal cell contamination in prenatal diagnosis of I^-thalassemia. (21316031)
2011
23
Kidney function tests in children with beta-thalassemia minor in Zahedan, southeast of Iran. (21525581)
2011
24
Was alpha-thalassemia searched as a cause of non-immune "hydrops fetalis?". (21428207)
2010
25
Genetic correction of sickle cell anemia and beta-thalassemia: progress and new perspective. (20419277)
2010
26
The XmnI (G)gamma polymorphism influences hemoglobin F synthesis contrary to BCL11A and HBS1L-MYB SNPs in a cohort of 57 beta-thalassemia intermedia patients. (20472475)
2010
27
Homozygosity for a rare beta 0-thalassemia mutation [frameshift codons 25/26 (+T)] causes beta-thalassemia intermedia in an Iranian family. (19205978)
2009
28
Moyamoya disease associated with hemoglobin Fairfax and beta-thalassemia. (18206795)
2008
29
Molecular analysis of beta-thalassemia intermedia in Guangdong Province]. (17706040)
2007
30
Thalassemia intermedia associated with the Hb Constant Spring EE Bart's disease in pregnancy: a molecular and hematological analysis. (17587614)
2007
31
Genotyping for known Mediterranean alpha-thalassemia point mutations using a multiplex amplification refractory mutation system. (17296579)
2007
32
Status of HFE mutation in thalassemia syndromes in north India. (17401564)
2007
33
HFE gene mutations in Tunisian major beta-Thalassemia and iron overload]. (17303462)
2006
34
Reticulocyte evaluation in alpha(+)-thalassemia. (16369954)
2006
35
Prenatal two- and three-dimensional ultrasound diagnosis of limb reduction defects associated with homozygous alpha-thalassemia. (16757914)
2006
36
Heterozygous beta-thalassemia and homozygous H63D hemochromatosis in a child: an 18-year follow-up. (15805002)
2005
37
Alpha-thalassemia: Hb H disease and Hb Barts hydrops fetalis. (16339648)
2005
38
Validation of dHPLC for molecular diagnosis of beta-thalassemia in Southern Italy. (14642006)
2003
39
Hb H disease among Tunisians: molecular characterization of alpha-thalassemia determinants and hematological findings. (12603097)
2003
40
Rapid screening of multiple beta-globin gene mutations by real-time PCR on the LightCycler: application to carrier screening and prenatal diagnosis of thalassemia syndromes. (12709368)
2003
41
Plasma chitotriosidase activity in patients with beta-thalassemia. (12221666)
2002
42
Renal tubular dysfunction in a patient with beta-thalassemia minor. (12187108)
2002
43
Administration of high doses of recombinant human erythropoietin to patients with beta-thalassemia intermedia: a preliminary trial. (9020369)
1997
44
Abnormal assembly of membrane proteins in erythroid progenitors of patients with beta-thalassemia major. (8634456)
1996
45
Nondeletional alpha-thalassemia: first description of alpha Hph alpha and alpha Nco alpha mutations in a Spanish population. (8756078)
1996
46
Hydrops fetalis caused by severe alpha-thalassemia. (1396245)
1992
47
Homozygous hemoglobin E mimics beta-thalassemia minor without anemia or hemolysis: hematologic, functional, and biosynthetic studies of first North American cases. (7395858)
1980
48
Thalassemia minor. Cause of complications in pregnant Black and Hispanic women. (279806)
1978
49
Sickle-cell trait, thalassemia, G-6-PD deficiency and puerperal pulmonary embolism. (972663)
1976
50
Thalassemia-hemoglobin E disease in a Tamil christian subject. Report of a case. (4718417)
1973

Genetic Variations for Thalassemia

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Expression for genes affiliated with Thalassemia

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Sources:
1BioGPS, 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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53Reactome, 29KEGG, 37NCBI BioSystems Database
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Compounds for genes affiliated with Thalassemia

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

(show top 50)    (show all 89)
idCompoundScoreTop Affiliating Genes
1iron44 2412.6HBA1, HBG2, GATA1, TF, TFRC, EPO
2heme28 11 2413.5HBE1, HBA1, HBD, HBZ, HFE, TF
3oxygen44 2412.4HBG2, AHSP, HBA2, HBB, HBA1, HBG1
4hydroxyurea44 49 1113.4HBG1, HBA2, EPO, UGT1A1, TFRC, GATA1
5aspartate4411.4HBB, TFRC, TF, GATA1, UGT1A1, G6PD
6alanine4411.2TFRC, HBG2, TF, UGT1A1, HFE, HBA2
7ascorbic acid44 2412.2EPO, TF, TFRC, HBG2, HFE, G6PD
8butyrate4411.2TFRC, GATA1, HBB, HBG1, HBA2, EPO
923-diphosphoglycerate4411.2HBB, HBG2, HBA2, EPO, G6PD
10iron dextran44 1112.2TF, EPO, TFRC, HBB, HBA1
11benzidine4411.2HBG1, EPO, UGT1A1, TFRC, HBB
125-aminolevulinic acid44 2412.2GATA1, TFRC, HFE, HBG1, HBB
13azathioprine44 49 2 1114.2EPO, G6PD, HBB, HBG1, GATA1
14lactate4411.2EPO, TFRC, G6PD, HBB, HBG2, TF
15sodium nitroprusside4411.2AHSP, G6PD, TF, TFRC, HBG2
16folate4411.1TFRC, GATA1, TF, G6PD, EPO
17succinylacetone4411.1EPO, TFRC, HBB, TF
18porphobilinogen44 11 2413.1HBG1, TFRC, GATA1, HBB
19zinc protoporphyrin4411.1G6PD, TFRC, TF, EPO
20fe2+4411.1HBG2, HFE, TFRC, TF
21deferoxamine44 1112.1HBG2, TF, EPO, TFRC
22vitamin b124411.1G6PD, EPO, TF, TFRC
23deferiprone4411.1TFRC, EPO, TF
24glucose 6-phosphate44 2412.1HBG2, UGT1A1, G6PD, HBB
25polyethylene glycol4411.1HBG2, G6PD, TFRC, TF
26s-nitrosocysteine4411.1HBB, HBG2, AHSP
27aclacinomycin4411.1HBG1, TFRC, GATA1
28aluminium44 1112.0EPO, TFRC, TF
29cytarabine44 49 1113.0EPO, HBG1, GATA1, TFRC
30protoporphyrin ix44 11 2413.0EPO, TFRC, TF
31methylene4411.0HBG2, G6PD, AHSP
32fe3+4411.0TF, TFRC, HBG2
33estrogen4411.0AHSP, GATA1
34fenton4410.9HBG2
35SEBACIC ACID1110.9HBB, HBA1
362-[4-({[(3,5-DICHLOROPHENYL)AMINO]CARBONYL}AMINO)PHENOXY]-2-METHYLPROPANOIC ACID1110.9HBA1, HBB
374-[(5-methoxy-2-methylphenoxy)methyl]pyridine1110.9HBB, HBA1
381,3,5-BENZENETRICARBOXYLIC ACID1110.9HBA1, HBB
394-Carboxycinnamic Acid1110.9HBB, HBA1
402-{4-[(3,5-DIMETHYLANILINO)-CARBONYL-METHYL]-PHENOXY}-2-METHYLPROPIONIC ACID1110.8HBB, HBA1
412-[(2-methoxy-5-methylphenoxy)methyl]pyridine1110.8HBA1, HBB
422,6-DICARBOXYNAPHTHALENE1110.8HBA1, HBB
43aluminium citrate4410.8TF, TFRC
448-aminoquinoline4410.7HBG2, G6PD
45ferric gluconate4410.7TF, EPO
46recormon4410.7TF, EPO
47tocopherol4410.7G6PD, TF, HBG2
48gallium4410.6TF, TFRC
49phenazine methosulfate4410.5G6PD, HBG2
50hemosiderin4410.3HBG2, HFE

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
1hemoglobin complexGO:00583310.9HBG2, AHSP, HBZ, HBD, HBA2, HBG1
2endocytic vesicle lumenGO:07168210.6HBB, HBA2
3haptoglobin-hemoglobin complexGO:03183810.5HBB, HBA2
4basal part of cellGO:04517810.3HFE, TF

Biological processes related to Thalassemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1blood coagulationGO:00759610.9HBG2, HBE1, HBB, HBG1, HBD, TF
2oxygen transportGO:01567110.6HBB, HBA2
3erythrocyte maturationGO:04324910.5G6PD, EPO, HBZ
4cellular iron ion homeostasisGO:00687910.3HFE, TFRC, TF

Molecular functions related to Thalassemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1oxygen transporter activityGO:00534411.0HBG2, HBZ, HBD, HBA2, HBG1, HBB
2oxygen bindingGO:01982511.0HBZ, HBD, HBA2, HBG1, HBB, HBE1
3heme bindingGO:02003710.9HBZ, HBD, HBA2, HBG1, HBB, HBE1
4iron ion bindingGO:00550610.8HBZ, HBD, HBA2, HBG1, HBB, HBE1
5hemoglobin bindingGO:03049210.6HBB, AHSP
6haptoglobin bindingGO:03172010.3HBB, HBA2

Products for genes affiliated with Thalassemia

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Sources for 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