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:001076811.2G6PD, GATA1, HBB, HBA2, HBZ, AHSP
2MP:000539710.8G6PD, HBB, HBA2, HBZ, AHSP, EPO

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
Variable Genotype-Phenotype Correlations in Patients With a Rare Nondeletional I+-thalassemia; Hb Pak Num Po (HBA1: c.396_397insT). (24136020)
2013
2
Pain over time and its effects on life in thalassemia. (23918696)
2013
3
Serial echocardiographic left ventricular ejection fraction measurements: a tool for detecting thalassemia major patients at risk of cardiac death. (23337255)
2013
4
Visual diagnosis: a 31/2-year-old boy with sickle I^-thalassemia and a groin mass. (23378618)
2013
5
Splenectomy is a risk factor for developing hyperuricemia and nephrolithiasis in patients with thalassemia intermedia: a retrospective study. (22705193)
2012
6
A search for Beta thalassemia trait in India. (24385736)
2012
7
Prevalence of depression and anxiety in adult patients with I^-thalassemia major and intermedia. (23885513)
2012
8
A useful relationship between the presence of extramedullary erythropoeisis and the level of the soluble form of the transferrin receptor in a large cohort of adult patients with thalassemia intermedia: a prospective study. (22167341)
2012
9
Beta thalassemia major: the effect of age on glomerular filtration rate. (21912026)
2011
10
Cross-sectional study of pulmonary function and MRI-derived liver and myocardial iron content in young patients with I^-thalassemia major. (21535156)
2011
11
Etiology and treatment of ischaemic stroke in patients with I^-thalassemia major. (21631645)
2011
12
Detection of early cardiac dysfunction in patients with I^-thalassemia major and thalassemia trait by tissue doppler echocardiography. (21707223)
2011
13
Management of chronic viral hepatitis in patients with thalassemia: recommendations from an international panel. (20551378)
2010
14
Nucleated red blood cells and soluble transferrin receptor in thalassemia syndromes: relationship with global and ineffective erythropoiesis. (19824799)
2009
15
Decreased nucleoside transport and hENT1 transporter expression in beta-thalassemia major. (19349719)
2009
16
Molecular characterization of alpha-thalassemia in the Dohuk region of Iraq. (19205971)
2009
17
Outcomes of pregnancies complicated by beta-thalassemia/hemoglobin E disease. (19084837)
2009
18
Hemoglobin profiles and hematologic features of thalassemic newborns: application to screening of alpha-thalassemia 1 and hemoglobin E. (18976009)
2008
19
Coinheritance of the different copy numbers of alpha-globin gene modifies severity of beta-thalassemia/Hb E disease. (18026953)
2008
20
Acute splenic sequestration crisis (ASSC) in an adult patient with beta-thalassemia sickle cell disease: a life-threatening complication. (18084762)
2008
21
Sickle liver disease--an unusual presentation in a compound heterozygote for HbS and a novel beta-thalassemia mutation. (17565724)
2007
22
Unbalanced bone turnover in children with beta-thalassemia. (17325962)
2006
23
Role of alpha-hemoglobin-stabilizing protein in normal erythropoiesis and beta-thalassemia. (16339656)
2005
24
Non-skewed X-inactivation may cause mental retardation in a female carrier of X-linked alpha-thalassemia/mental retardation syndrome (ATR-X): X-inactivation study of nine female carriers of ATR-X. (16100724)
2005
25
Diagnosis and management of alpha thalassemia disorders. (16339710)
2005
26
Cardiovascular effects of splenomegaly and splenectomy in beta-thalassemia. (15711802)
2005
27
Sulfadiazine-induced methemoglobinemia in a boy with thalassemia. (16251579)
2005
28
A patient with Klinefelter's syndrome and thalassemia intermedia. (15844476)
2005
29
Hb Oegstgeest [alpha104(G11)Cys-->Ser (alpha1)]. A new hemoglobin variant associated with a mild alpha-thalassemia phenotype. (16114179)
2005
30
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
31
Enhanced phagocytosis of ring-parasitized mutant erythrocytes: a common mechanism that may explain protection against falciparum malaria in sickle trait and beta-thalassemia trait. (15280204)
2004
32
Analysis of the A(TA)(n)TAA configuration in the promoter region of the UGT1 A1 gene in Greek patients with thalassemia intermedia and sickle cell disease. (12850481)
2003
33
Disproportionately elevated fasting proinsulin levels in normoglycemic patients with thalassemia major are correlated to the degree of iron overload. (12589110)
2003
34
The characteristics of megaloblastic anemia associated with thalassemia. (12010671)
2002
35
Atypical hemoglobin H disease in a Thai patient resulting from a combination of alpha-thalassemia 1 and hemoglobin Constant Spring with hemoglobin J Bangkok heterozygosity. (11422410)
2001
36
Transient hypoparathyroidism due to amphotericin B-induced hypomagnesemia in a patient with beta-thalassemia. (11573853)
2001
37
Molecular analysis of beta-thalassemia in Vietnam. (10870880)
2000
38
A Japanese patient with X-linked alpha-thalassemia/mental retardation syndrome: an additional case report. (8996969)
1996
39
Role of alternatively spliced beta E-globin mRNA on clinical severity of beta-thalassemia/hemoglobin E disease. (8629114)
1995
40
Pitfalls in newborn hemoglobinopathy screening: failure to detect beta(+)-thalassemia. (7636661)
1995
41
Recent advances in the management of thalassemia. (9371987)
1995
42
Bipolar affective disorder associated with beta-thalassemia minor. (7786963)
1995
43
Osteodystrophy in thalassemia major]. (8161477)
1993
44
Delta beta thalassemia and hereditary persistence of fetal hemoglobin. (1713909)
1991
45
Molecular characterization of beta-thalassemia mutations in Egypt. (1975554)
1990
46
Plasma lipids in beta-thalassemia minor. (2712866)
1989
47
Duplication followed by deletion accounts for the structure of an Indian deletion beta (0)-thalassemia gene. (7162987)
1982
48
Beta + thalassemia: aberrant splicing results from a single point mutation in an intron. (6895866)
1981
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
Survival studies of thalassemic erythrocytes transfused into donors, into subjects with thalassemia minor and into normal and splenectomized subjects. (13560580)
1958

Genetic Variations for Thalassemia

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Expression for genes affiliated with Thalassemia

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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:00759610.9HBD, HBG2, HBE1, HBB, HBG1, GATA1
2oxygen transportGO:01567110.6HBB, HBA2
3erythrocyte maturationGO:04324910.5EPO, HBZ, G6PD
4cellular iron ion homeostasisGO:00687910.3TF, TFRC, HFE

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:01982511.0HBE1, HBB, HBG1, HBA2, HBD, HBZ
3heme bindingGO:02003710.9HBB, HBZ, HBD, HBA2, HBG1, HBE1
4iron ion bindingGO:00550610.8HBZ, HBG2, HBD, HBA2, HBG1, HBB
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