MCID: THL005
MIFTS: 69

Thalassemia malady

Blood category

Summaries for Thalassemia

Sources:
34MedlinePlus, 64Wikipedia, 47OMIM, 33MalaCards
See all sources

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MedlinePlus:34 Thalassemias are inherited blood disorders. if you have one, your body makes fewer healthy red blood cells and less hemoglobin. hemoglobin is a protein that carries oxygen to the body. that leads to anemia. thalassemias occur most often among people of italian, greek, middle eastern, southern asian, and african descent. thalassemias can be mild or severe. some people have no symptoms or mild anemia. the most common severe type in the united states is called cooley's anemia. it usually appears during the first two years of life. people with it may have severe anemia, slowed growth and delayed puberty, and problems with the spleen, liver, heart, or bones. doctors diagnose thalassemias using blood tests. treatments include blood transfusions and treatment to remove excess iron from the body. if you have mild symptoms or no symptoms, you may not need treatment. in some severe cases, you may need a bone marrow transplant. nih: national heart, lung, and blood institute

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 skin, liver and spinal cord, and related mouse phenotypes are mortality/aging and hematopoietic system.

Wikipedia:64 Thalassemia (British English: thalassaemia) are forms of inherited autosomal recessive blood disorders... more...

Description from OMIM:47 604131

Aliases & Classifications for Thalassemia

Sources:
8Disease Ontology, 43NIH Rare Diseases, 22GTR, 10DISEASES, 45Novoseek, 34MedlinePlus, 31LifeMap Discovery™, 61UMLS, 57SNOMED-CT, 47OMIM, 27ICD9CM, 35MeSH, 40NCIt
See all sources

Classifications:

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


Aliases & Descriptions:

thalassemia 8 43 22 10 45 34 31 61
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


External Ids:

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

Related Diseases for Thalassemia

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Thalassemia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 274)
idRelated DiseaseScoreTop Affiliating Genes
1beta thalassemia31.9HBA2, TFRC, HBB, TF, HFE
2alpha thalassemia31.7HBA1, HBB, HBG1, HBA2, HBZ, HFE
3sickle cell disease31.0HBB, HBG2, HBG1, HBA2, HBD, G6PD
4sickle cell anemia30.9HBG1, HBB, G6PD
5deficiency anemia30.9TFRC, TF, GATA1, G6PD, EPO, HFE
6iron deficiency anemia30.8HBG2, G6PD, TF, EPO, HFE, TFRC
7alpha-thalassemia/mental retardation syndrome30.8ATRX
8hemochromatosis30.7TF, TFRC, HFE
9hydrops fetalis30.6HBA2, HBB
10hepatitis c30.6TF, HFE
11siderosis30.5TF, TFRC, HFE
12hemosiderosis30.4HFE, TF, EPO
13thalassemias, beta-30.3HBBP1, HBB
14hypochromic microcytic anemia30.3TF, HBB
15hepatitis a30.2HBE1
16hereditary spherocytosis30.2G6PD, TFRC, UGT1A1, HFE
17thalassemia-beta, dominant inclusion-body30.2HBBP1, HBB
18cholelithiasis30.2UGT1A1
19viral hepatitis30.1HFE, G6PD
20erythrocytosis30.1HBB, EPO
21favism30.0G6PD
22porphyria cutanea tarda29.9TFRC, TF, HFE
23methemoglobinemia29.9G6PD, HBG2
24splenomegaly29.9EPO, HBA2
25pyruvate kinase deficiency29.9G6PD
26atherosclerosis29.9G6PD, AHSP
27wilson disease29.9G6PD, TF, HFE
28gilbert syndrome29.9UGT1A1, G6PD
29polycythemia vera29.9EPO, G6PD
30cystic fibrosis29.9HBB
31bronchitis29.7TF, EPO, TFRC, HFE
32diabetic nephropathy29.7EPO, HFE, TFRC, TF
33acute leukemia29.7EPO, HBA2, HFE, TFRC, GATA1
34hemoglobinuria29.7G6PD
35klinefelter's syndrome29.7HBB
36thalassemia minor10.9
37hemoglobin c - beta-thalassemia10.8
38hemoglobin s beta-thalassemia10.7
39hemoglobin d disease10.7
40hemoglobin e - beta-thalassemia10.7
41thalassemia, delta-10.6
42hemoglobin c disease10.6
43delta-beta thalassemia10.6
44alpha-thalassemia x-linked intellectual disability syndrome10.5
45mental retardation10.5
46hemoglobin sickle-beta thalassemia10.5
47t cell deficiency10.5
48sickle cell - beta-thalassemia disease10.5
49osteoporosis10.4
50thalassemia, hispanic gamma-delta-beta10.4

Graphical network of the top 20 diseases related to Thalassemia:



Diseases related to thalassemia

Clinical Features for Thalassemia

Sources:
47OMIM
See all sources

Clinical features from OMIM:

604131

Drugs & Therapeutics for Thalassemia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discovery™, 61UMLS, 41NDF-RT
See all sources

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

Sources:
22GTR
See all sources

Genetic tests related to Thalassemia:

id Genetic test Affiliating Genes
1 Thalassemia22

Anatomical Context for Thalassemia

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Thalassemia:

33
Skin, Liver, Spinal cord, Brain, Kidney, Lung, Spleen, Bone marrow, Whole blood, Heart, Smooth muscle, Skeletal muscle, Colon, Thyroid, Adrenal gland, Breast, Testis, Myeloid, Monocytes, Nk cells, T cells, B lymphoblasts, B cells, Endothelial, Fetal brain, Fetal liver, Fetal lung, Fetal thyroid, Pancreatic islet, Pituitary, Testis leydig

Animal Models for Thalassemia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Thalassemia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:001076811.2G6PD, GATA1, HBB, HBA2, HBZ, AHSP
2MP:000539710.8G6PD, HBB, HBA2, HBZ, AHSP, EPO

Publications for Thalassemia

Sources:
51PubMed
See all sources

Articles related to Thalassemia:

(show top 50)    (show all 2138)
idTitleAuthorsYear
1
Detection of Nine Mediterranean I^-Thalassemia Mutations in Palestinians Using Three Restriction Enzyme Digest Panels: A Reliable Method for Developing Countries. (24144202)
2014
2
Fat-Soluble Antioxidant Vitamins, Iron Overload and Chronic Malnutrition in I^-Thalassemia Major. (24062266)
2013
3
Hypoxia Biomarkers, Oxidative Stress, and Circulating Microparticles in Pediatric Patients With Thalassemia in Upper Egypt. (23314673)
2013
4
I^-Thalassemia in Abu Dhabi: consanguinity and tribal stratification are major factors explaining the high prevalence of the disease. (23600619)
2013
5
Pseudoxanthoma elasticum-like lesions in beta-thalassemia/hemoglobin E patient: a case report. (23414363)
2013
6
Comparison of biventricular dimensions and function between pediatric sickle-cell disease and thalassemia major patients without cardiac iron. (23386313)
2013
7
Molecular spectrum of I^-thalassemia mutations in the admixed Venezuelan population, and their linkage to I^-globin gene haplotypes. (22563936)
2012
8
The Prevalence Of I^-Thalassemia Mutations in South Western Maharashtra. (24082466)
2012
9
A new Frameshift mutation on the I+2-globin gene causing I+a8_-thalassemia: codon 43 (TTC>-TC or TTC>T-C). (22738776)
2012
10
Glomerular hyperfiltration and proteinuria in transfusion-independent patients with I^-thalassemia intermedia. (23235469)
2012
11
Hb E/I^-thalassemia: the second most common cause of transfusion-dependent thalassemia in the Gwalior-Chambal region of Central India. (22738610)
2012
12
Left and right ventricular function and volume assessment in young thalassemia major patients with no related myocardial iron overload. (22878458)
2012
13
Cross-sectional study of pulmonary function and MRI-derived liver and myocardial iron content in young patients with I^-thalassemia major. (21535156)
2011
14
The first case of X-linked Alpha-thalassemia/mental retardation (ATR-X) syndrome in Korea. (21218045)
2011
15
I^-Thalassemia mutations found during 1 year of prenatal diagnoses in Fars Province, Iran. (21797700)
2011
16
Myocardial iron loading in patients with thalassemia major in Turkey and the potential role of splenectomy in myocardial siderosis. (21364469)
2011
17
Was alpha-thalassemia searched as a cause of non-immune "hydrops fetalis?". (21428207)
2010
18
Secondary erythrocytosis caused by hemoglobin Tak/(I'I^)0-thalassemia syndrome. (20798489)
2010
19
Beta-thalassemia. (20098328)
2010
20
Persistent jaundice in an infant with homozygous beta thalassemia due to co-inherited Crigler-Najjar syndrome. (19953640)
2010
21
Assessment of coagulation state and its related factors in thalassemia intermedia patients referred to thalassemia research center at Booali Sina Hospital Sari/IR Iran in 2007. (20973399)
2010
22
Efficacy of combined desferrioxamine and deferiprone versus single desferrioxamine therapy in patients with major thalassemia. (19722772)
2009
23
Significance of borderline hemoglobin A2 values in an Italian population with a high prevalence of beta-thalassemia. (18603555)
2008
24
On the road to gene therapy for beta-thalassemia and sickle cell anemia. (18231949)
2008
25
Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia. (18245381)
2008
26
H63D mutation of the hemochromatosis gene and serum ferritin levels in Thai thalassemia carriers. (17637512)
2007
27
Rapid development of anemia in a HIV-positive patient with alpha-thalassemia after zidovudine therapy]. (17933262)
2007
28
Screening for inherited thrombophilia might be warranted among Eastern Mediterranean sickle-beta-0 thalassemia patients. (17008978)
2006
29
Prevalence of the H63D mutation of the HFE in north India: its presence does not cause iron overload in beta thalassemia trait. (15777346)
2005
30
Diagnosis and management of alpha thalassemia disorders. (16339710)
2005
31
Acquired alpha-thalassemia in association with myelodysplastic syndrome and other hematologic malignancies. (15358626)
2005
32
MRI of the liver and the pituitary gland in patients with beta-thalassemia major: does hepatic siderosis predict pituitary iron deposition? (12541105)
2003
33
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
34
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
35
Recombinant human erythropoietin therapy in a transfusion-dependent beta-thalassemia major patient. (11563599)
2001
36
Simultaneous PCR detection of beta - thalassemia and alpha - thalassemia 1 (SEA type) in prenatal diagnosis of complex thalassemia syndrome. (11522274)
2001
37
Premarital screening of beta-thalassemia trait in the province of Denizli, Turkey. (11111119)
2000
38
The precise breakpoints of a Filipino-type alpha-thalassemia-1 deletion found in two Japanese. (10490136)
1999
39
A rapid method for diagnosing alpha-thalassemia-1 of Southeast Asia type]. (15622759)
1997
40
Treatment of beta-thalassemia with hydroxyurea (HU)--effects of HU on globin gene expression. (7865126)
1994
41
Combined radiotherapeutic and surgical management of a spinal cord compression by extramedullary hematopoiesis in a patient with hemoglobin E beta-thalassemia. (8091937)
1994
42
Fetal globin stimulation during a short-term trial of erythropoietin in HbS/beta-thalassemia patients. (7529455)
1994
43
Osteodystrophy in thalassemia major]. (8161477)
1993
44
Hb Hradec Kralove (Hb HK) or alpha 2 beta 2 115(G17)Ala-->Asp, a severely unstable hemoglobin variant resulting in a dominant beta- thalassemia trait in a Czech family. (7693620)
1993
45
Beta-thalassemia intermedia with exceptionally high hemoglobin A2: relationship to mutations in the beta-gene promoter. (1380206)
1992
46
Human pythiosis associated with thalassemia hemoglobinopathy syndrome. (2644370)
1989
47
A frequent A gamma-hereditary persistence of fetal hemoglobin in northern Sardinia: its molecular basis and hematologic phenotype in heterozygotes and compound heterozygotes with beta-thalassemia. (2452784)
1988
48
Fetal hemoglobin synthesis in erythroid cultures in hereditary persistence of fetal hemoglobin and beta o-thalassemia. (6202341)
1984
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
Ca17 metabolism in congenital hemolytic anemia (homozygous thalassemia). (6028443)
1967

Genetic Variations for Thalassemia

Expression for genes affiliated with Thalassemia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 30KEGG, 38NCBI BioSystems Database
See all sources

Compounds for genes affiliated with Thalassemia

Sources:
45Novoseek, 24HMDB, 29IUPHAR, 11DrugBank, 50PharmGKB, 2BitterDB
See all sources

Compounds related to Thalassemia according to GeneCards/GeneDecks:

(show top 50)    (show all 89)
idCompoundScoreTop Affiliating Genes
1iron45 2412.6HBA1, HBG2, GATA1, TF, TFRC, EPO
2heme29 11 2413.5HBE1, HBA1, HBD, HBZ, HFE, TF
3oxygen45 2412.4HBG2, AHSP, HBA2, HBB, HBA1, HBG1
4hydroxyurea45 50 1113.4HBG1, HBA2, EPO, UGT1A1, TFRC, GATA1
5aspartate4511.4HBB, TFRC, TF, GATA1, UGT1A1, G6PD
6alanine4511.2TFRC, HBG2, TF, UGT1A1, HFE, HBA2
7ascorbic acid45 2412.2EPO, TF, TFRC, HBG2, HFE, G6PD
8butyrate4511.2TFRC, GATA1, HBB, HBG1, HBA2, EPO
923-diphosphoglycerate4511.2HBB, HBG2, HBA2, EPO, G6PD
10iron dextran45 1112.2TF, EPO, TFRC, HBB, HBA1
11benzidine4511.2HBG1, EPO, UGT1A1, TFRC, HBB
125-aminolevulinic acid45 2412.2GATA1, TFRC, HFE, HBG1, HBB
13azathioprine45 50 2 1114.2EPO, G6PD, HBB, HBG1, GATA1
14lactate4511.2EPO, TFRC, G6PD, HBB, HBG2, TF
15sodium nitroprusside4511.2AHSP, G6PD, TF, TFRC, HBG2
16folate4511.1TFRC, GATA1, TF, G6PD, EPO
17succinylacetone4511.1EPO, TFRC, HBB, TF
18porphobilinogen45 11 2413.1HBG1, TFRC, GATA1, HBB
19zinc protoporphyrin4511.1G6PD, TFRC, TF, EPO
20fe2+4511.1HBG2, HFE, TFRC, TF
21deferoxamine45 1112.1HBG2, TF, EPO, TFRC
22vitamin b124511.1G6PD, EPO, TF, TFRC
23deferiprone4511.1TFRC, EPO, TF
24glucose 6-phosphate45 2412.1HBG2, UGT1A1, G6PD, HBB
25polyethylene glycol4511.1HBG2, G6PD, TFRC, TF
26s-nitrosocysteine4511.1HBB, HBG2, AHSP
27aclacinomycin4511.1HBG1, TFRC, GATA1
28aluminium45 1112.0EPO, TFRC, TF
29cytarabine45 50 1113.0EPO, HBG1, GATA1, TFRC
30protoporphyrin ix45 11 2413.0EPO, TFRC, TF
31methylene4511.0HBG2, G6PD, AHSP
32fe3+4511.0TF, TFRC, HBG2
33estrogen4511.0AHSP, GATA1
34fenton4510.9HBG2
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 citrate4510.8TF, TFRC
448-aminoquinoline4510.7HBG2, G6PD
45ferric gluconate4510.7TF, EPO
46recormon4510.7TF, EPO
47tocopherol4510.7G6PD, TF, HBG2
48gallium4510.6TF, TFRC
49phenazine methosulfate4510.5G6PD, HBG2
50hemosiderin4510.3HBG2, HFE

GO Terms for genes affiliated with Thalassemia

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
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  • Antibodies

Sources for Thalassemia

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet