MCID: THL005
MIFTS: 64

Thalassemia malady

Rare diseases, Blood diseases, Nephrological diseases categories

Summaries for Thalassemia

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MedlinePlus:32 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 based summary: Thalassemia, also known as sickle-cell thalassemia without crisis, is related to hemoglobinopathy and sickle cell anemia. 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 African trypanosomiasis. 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.

NIH Rare Diseases:41 Thalassemia is an inherited blood disorder that reduces the production of functional hemoglobin (the protein in red blood cells that carries oxygen). this causes a shortage of red blood cells and low levels of oxygen in the bloodstream, leading to a variety of health problems. there are two main types of thalassemia, alpha thalassemia and beta thalassemia. signs and symptoms vary but may include mild to severe anemia, paleness, fatigue, yellow discoloration of skin (jaundice), and bone problems. beta thalassemia is caused by changes (mutations) in the hbb gene while alpha thalassemia is caused by mutations in the hba1 and/or hba2 genes. both are inherited in an autosomal recessive manner. treatment depends on the type and severity of the condition but may include blood transfusions and/or folic acid supplements. last updated: 1/1/2015

Wikipedia:63 Thalassemia (British English: thalassaemia) is a form of inherited autosomal recessive blood disorders... more...

Aliases & Classifications for Thalassemia

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Thalassemia, Aliases & Descriptions:

Name: Thalassemia 30 9 41 11 43 32 3 60
Sickle-Cell Thalassemia Without Crisis 9 60
Sickle-Cell Thalassemia with Crisis, Unspecified 60
Thalassemia Hb-S Disease Without Crisis 9
 
Thalassemia Hb-S Disease with Crisis 9
Sickle-Cell Thalassemia with Crisis 9
α-Thalassemia 22


Classifications:

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


External Ids:

Disease Ontology9 DOID:10241
NCIt38 C35069
MeSH33 D013789
ICD9CM27 282.4

Related Diseases for Thalassemia

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Diseases in the Thalassemia family:

Dominant Beta-Thalassemia

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

(show top 50)    (show all 262)
idRelated DiseaseScoreTop Affiliating Genes
1hemoglobinopathy31.8HBS1L
2sickle cell anemia31.4G6PD, HBB, HBG1
3hydrops fetalis31.3HBA2, HBB
4fetal hemoglobin quantitative trait locus 131.3HBB
5glucose-6-phosphate dehydrogenase deficiency31.0UGT1A1, G6PD
6hemoglobin h disease, nondeletional31.0HBA1, HBA2
7hepatitis30.9TFRC, UGT1A1, HFE
8favism30.9G6PD
9pyruvate kinase deficiency30.8G6PD
10thalassemia, hispanic gamma-delta-beta30.7TF, TFRC, HBA2, HBB, HFE
11methemoglobinemia30.7G6PD
12malaria30.7TFRC, HBA2, HBB, G6PD
13hemochromatosis30.7TF, TFRC, HFE
14gilbert syndrome30.7UGT1A1
15hereditary spherocytosis30.6HBA2, HBB, G6PD
16siderosis30.5HFE, TFRC, TF
17hemosiderosis30.3HFE, EPO, TF
18splenomegaly30.3EPO, HBA2
19neonatal jaundice30.2UGT1A1, G6PD
20thrombocytopenia30.2EPO, HFE, GATA1
21iron deficiency anemia30.2TF, TFRC, G6PD, EPO, HFE
22myelofibrosis30.2EPO, GATA1
23thalassemias, alpha-30.2HBB, HBA2, HBA1, HBG1, ATRX, UGT1A1
24polycythemia vera30.1G6PD, EPO
25congenital hemolytic anemia30.0TF, G6PD
26porphyria29.9TF, HFE, GATA1
27porphyria cutanea tarda29.9HFE, TFRC, TF
28microcytic anemia29.8TF, TFRC, HBA2, G6PD, EPO
29wilson disease29.8TF, G6PD, HFE
30polycythemia29.7TFRC, HBA2, HBB, G6PD, EPO
31hepatocellular carcinoma29.6HFE, HBB, UGT1A1, TF
32myelodysplastic syndrome29.5TF, TFRC, ATRX, EPO, HFE, GATA1
33leukemia29.4TFRC, HBA2, HBB, EPO, HFE, GATA1
34sickle cell disease29.4EPO, G6PD, HBB, HBA2, HBD, HBG1
35hemolytic anemia29.0HBB, HBA2, UGT1A1, TFRC, TF, G6PD
36deficiency anemia28.8HFE, EPO, G6PD, HBB, HBA2, HBA1
37alpha-thalassemia x-linked intellectual disability syndrome10.6
38hemoglobin e - beta-thalassemia10.6
39mental retardation10.6
40alpha-thalassemia/mental retardation syndrome10.6
41hemoglobin e disease10.5
42heinz body anemia10.5HBA2
43sickle beta thalassemia10.5
44lysinuric protein intolerance10.5G6PD
45hepatitis c10.5
46osteoporosis10.4
47hematopoietic stem cell transplantation10.4
48sickle cell - beta-thalassemia disease10.4
49phenylketonuria10.4HBB, G6PD
50cerebritis10.4

Graphical network of the top 20 diseases related to Thalassemia:



Diseases related to thalassemia

Symptoms for Thalassemia

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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
Data from LifeMap, the Embryonic Development and Stem Cells Database
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:

31
Bone, Liver, Testes, Bone marrow, Heart, Spleen, Skin, Lung, Thyroid, Endothelial, Brain, Neutrophil, Pituitary, Spinal cord, Skeletal muscle, Kidney, Myeloid, Whole blood, Smooth muscle, Colon, Breast, Testis, Monocytes, T cells

Animal Models for Thalassemia or affiliated genes

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MGI Mouse Phenotypes related to Thalassemia:

35
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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Articles related to Thalassemia:

(show top 50)    (show all 2153)
idTitleAuthorsYear
1
Molecular Characterization of I^-Thalassemia in Nineveh Province Illustrates the Relative Heterogeneity of Mutation Distributions in Northern Iraq. (25825560)
2015
2
Characterization of two unique I+-globin gene cluster deletions causing I+-thalassemia in Israeli Arabs. (25222045)
2014
3
Benefits of chronic blood transfusion in hemoglobin E/I^ thalassemia with pulmonary arterial hypertension. (25170276)
2014
4
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
5
Fat-Soluble Antioxidant Vitamins, Iron Overload and Chronic Malnutrition in I^-Thalassemia Major. (24062266)
2013
6
Thyroid function status and echocardiographic abnormalities in patients with Beta thalassemia major in bahrain. (23400522)
2013
7
Hemoglobin SO-Arab and I+-thalassemia diagnosed in an adult: A case-based review of the hemoglobinopathies. (23221516)
2013
8
Variable Genotype-Phenotype Correlations in Patients With a Rare Nondeletional I+-thalassemia; Hb Pak Num Po (HBA1: c.396_397insT). (24136020)
2013
9
Beta-globin Gene Mutations in Turkish Children with Beta-Thalassemia: Results from a Single Center Study. (24106605)
2013
10
Macrophages support pathological erythropoiesis in polycythemia vera and I^-thalassemia. (23502961)
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
Premarital screening of beta-thalassemia trait in the province of Denizli, Turkey. (11111119)
2000
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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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 Suite gene sharing:

(show top 50)    (show all 92)
idCompoundScoreTop Affiliating Genes
1artesunate43 4910.7G6PD, TFRC
2aclacinomycin439.6GATA1, HBG1, TFRC
3aluminium citrate439.5TFRC, TF
4gallium439.4TFRC, TF
5neomycin439.4HBG1, EPO, HBB
623-diphosphoglycerate439.4HBA2, G6PD, HBB, EPO
7recormon439.4EPO, TF
8ferric gluconate439.4EPO, TF
9glyceraldehyde 3-phosphate439.3G6PD, HBB, HBG1, TFRC
10porphobilinogen43 24 1211.3TFRC, GATA1, HBB, HBG1
11chloramphenicol43 2 49 1212.3GATA1, G6PD, UGT1A1, HBB
12methylcellulose439.3TFRC, HBG1, EPO
13iron sucrose439.3EPO, TF
14dmso439.3GATA1, HBB, G6PD, TFRC
15bismuth43 2410.2TF, TFRC
16mycophenolate mofetil43 49 1211.2EPO, TFRC, UGT1A1
17apotransferrin439.1TF, TFRC
18fe2+439.1TF, TFRC, HFE
19leucine439.0GATA1, HBB, UGT1A1, HBG1, HBA2
205-aminolevulinic acid43 2410.0HFE, GATA1, TFRC, HBB, HBG1
21ribavirin43 49 1211.0G6PD, TF, EPO
22zinc43 2410.0HBB, HFE, GATA1, ATRX, HBG1
23deferiprone438.9TF, EPO, TFRC
24aluminium43 129.9TFRC, EPO, TF
25cytarabine43 49 1210.9GATA1, EPO, TFRC, HBG1
26azathioprine43 2 49 1211.9G6PD, GATA1, EPO, HBB, HBG1
27protoporphyrin ix43 24 1210.9TF, TFRC, EPO
28tamoxifen43 49 28 1211.9TF, G6PD, HBB, UGT1A1
29deferoxamine43 129.8TF, TFRC, EPO
30polyethylene glycol438.8G6PD, TFRC, TF
31benzidine438.8HBG1, HBB, UGT1A1, TFRC, EPO
32chloroquine43 2 49 28 1212.7G6PD, TF, TFRC
33thymidine43 249.7HBB, HBA2, UGT1A1, EPO, TFRC
34succinylacetone438.7TF, EPO, TFRC, HBB
35phenobarbital43 28 49 1211.6TF, UGT1A1, G6PD
36zinc protoporphyrin438.6G6PD, TFRC, TF, EPO
37vitamin b12438.6EPO, TFRC, TF, G6PD
38testosterone43 59 24 1211.5HFE, EPO, UGT1A1, G6PD, TFRC
39butyrate438.4HBB, GATA1, TFRC, EPO, HBA2, HBG1
40heme28 24 1210.3HBB, HFE, HBA1, HBD, HBG1, TF
41lactate438.3EPO, G6PD, TF, TFRC, HBB
42oxygen43 249.2G6PD, HBB, HBG1, HBD, EPO, HBA1
43ascorbic acid43 249.2TF, HFE, EPO, G6PD, TFRC
44iron dextran43 129.2TFRC, HBB, TF, HBA1, EPO
45alanine438.2HBB, HBA2, UGT1A1, TFRC, HFE, TF
46folate438.1GATA1, EPO, G6PD, TFRC, TF
47hydroxyurea43 49 1210.0UGT1A1, GATA1, EPO, HBB, HBG1, HBA2
48estrogen437.7TFRC, UGT1A1, HFE, GATA1, G6PD, TF
49aspartate437.1TF, TFRC, HBB, UGT1A1, GATA1, HFE
50iron43 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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1haptoglobin-hemoglobin complexGO:003183810.0HBB, HBA2
2endocytic vesicle lumenGO:00716829.6HBB, HBA2
3hemoglobin complexGO:00058339.5HBB, HBA2, HBD, HBG1
4basal part of cellGO:00451789.3HFE, TF
5blood microparticleGO:00725628.4TF, TFRC, HBD, HBA2, HBB
6extracellular regionGO:00055768.0TFRC, HBA2, HBB, EPO, TF
7extracellular vesicular exosomeGO:00700627.9TF, TFRC, HBS1L, HBA2, HBB, G6PD

Biological processes related to Thalassemia according to GeneCards Suite gene sharing:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1oxygen transportGO:001567110.1HBB, HBA2
2hydrogen peroxide catabolic processGO:004274410.0HBB, HBA2
3positive regulation of cell deathGO:00109429.9HBB, HBA2
4response to hydrogen peroxideGO:00425429.9HBB, HBA2
5bicarbonate transportGO:00157019.8HBA2, HBB
6oxidation-reduction processGO:00551149.7HBA2, HBB, G6PD
7erythrocyte maturationGO:00432499.7EPO, G6PD
8cellular iron ion homeostasisGO:00068799.0TF, TFRC, HFE
9transferrin transportGO:00335728.8TFRC, TF
10blood coagulationGO:00075968.6GATA1, HBB, HBD, HBG1, TF

Molecular functions related to Thalassemia according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1haptoglobin bindingGO:00317209.8HBB, HBA2
2peroxidase activityGO:00046019.6HBA2, HBB
3oxygen transporter activityGO:00053449.5HBB, HBA2, HBD, HBG1
4oxygen bindingGO:00198259.4HBG1, HBD, HBA2, HBB
5heme bindingGO:00200379.4HBB, HBA2, HBD, HBG1
6iron ion bindingGO:00055069.3HBG1, HBD, HBA2, HBB
7protein bindingGO:00055156.6TFRC, ATRX, HBA2, HBB, G6PD, EPO

Products for genes affiliated with Thalassemia

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Sources for Thalassemia

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