MCID: ALP006
MIFTS: 75

Alpha Thalassemia malady

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

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NIH Rare Diseases:42 Alpha-thalassemia is a blood disorder that reduces the body's production of hemoglobin. affected individuals have anemia, which can cause pale skin, weakness, fatigue, and more serious complications. two types of alpha-thalassemia can cause health problems: the more severe type is known as hb bart syndrome; the milder form is called hbh disease. hb bart syndrome may be characterized by hydrops fetalis; severe anemia; hepatosplenomegaly; heart defects; and abnormalities of the urinary system or genitalia. most babies with this condition are stillborn or die soon after birth. hbh disease may cause mild to moderate anemia; hepatosplenomegaly; jaundice; or bone changes. alpha-thalassemia typically results from deletions involving the hba1 and hba2 genes. the inheritance is complex, and can be read about here. no treatment is effective for hb bart syndrome; for hbh disease, occasional red blood cell transfusions may be needed. last updated: 1/23/2012

MalaCards based summary: Alpha Thalassemia, also known as alpha-thalassemia, is related to beta thalassemia and hydrops fetalis, and has symptoms including microcytic anemia, hemoglobinosis/hemoglobinopathy and autosomal recessive inheritance. An important gene associated with Alpha Thalassemia is HBA2 (hemoglobin, alpha 2), and among its related pathways are Selenium Pathway and O2/CO2 exchange in erythrocytes. The compounds iron dextran and de-oxy have been mentioned in the context of this disorder. Affiliated tissues include bone, heart and testes, and related mouse phenotypes are reproductive system and growth/size/body.

Disease Ontology:8 Alpha thalassemia is a thalassemia involving the genes hba1and hba2 hemoglobin genes.

Genetics Home Reference:21 Alpha thalassemia is a blood disorder that reduces the production of hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen to cells throughout the body.

MedlinePlus:33 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

Wikipedia:65 Alpha-thalassemia (?-thalassemia, ?-thalassaemia) is a form of thalassemia involving the genes HBA1 and... more...

Descriptions from OMIM:46 604131,613978,141800,301040,141750

GeneReviews summary for a-thal

Aliases & Classifications for Alpha Thalassemia

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Sources:
10DISEASES, 44Novoseek, 33MedlinePlus, 8Disease Ontology, 42NIH Rare Diseases, 21Genetics Home Reference, 62UMLS, 19GeneReviews, 48Orphanet, 22GTR, 9diseasecard, 20GeneTests, 46OMIM, 57SNOMED-CT, 34MeSH, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet, 25ICD10
See all sources

Alpha Thalassemia, Aliases & Descriptions:

Name: Alpha Thalassemia 8 42 21 10
Alpha-Thalassemia 8 19 42 21 44 48 62
Thalassemia, Alpha- 9 20 22 46
Hemoglobin H Disease 8 22 62
Thalassemia 10 44 33
 
Alpha Thalassaemia 8 62
α-Thalassemia 21
a-Thalassemia 42
Thalassaemia 62


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
alpha-thalassemia:
Inheritance: Autosomal recessive; Prevalence: 1-5/10000; Age of onset: Variable; Age of death: Normal


External Ids:

Disease Ontology8 DOID:1099
MeSH34 D017085
NCIt39 C34368
MESH via Orphanet35 D017085
ICD10 via Orphanet26 D56.0
UMLS via Orphanet63 C0002312, C1456873
ICD1025 D56, D56.0, D56.9

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

(show top 50)    (show all 271)
idRelated DiseaseScoreTop Affiliating Genes
1beta thalassemia31.5HBB, HBA2
2hydrops fetalis31.4HBB, HBA2
3iron deficiency anemia31.2HBG2, G6PD
4hemoglobin h disease, nondeletional31.1HBA1, HBA2
5malaria31.1G6PD, HBB, HBA2
6sickle cell anemia31.0HBA1, HBB, HBA2, HBG2
7microcytic anemia30.9HBA2, G6PD
8hemoglobinopathy30.8G6PD, HBB, HBA2
9favism30.8G6PD
10pyruvate kinase deficiency30.7G6PD
11hereditary persistence of fetal hemoglobin30.7HBB
12erythrocytosis30.7HBB
13deficiency anemia30.7HBB, HBA1, HBA2, HBG2, G6PD
14sickle cell disease30.6HBB, HBA2, HBG2, G6PD
15methemoglobinemia30.4HBG2, G6PD
16polycythemia30.3HBB, G6PD, HBA2
17hemolytic anemia30.2HBA2, HBG2, HBB, G6PD
18diabetes mellitus30.0G6PD, HBA2, HBA1
19gingivitis29.7SMARCA2, SMARCA4
20thalassemia11.3
21mental retardation10.7
22alpha-thalassemia/mental retardation syndrome10.7
23alpha-thalassemia x-linked intellectual disability syndrome10.7
24hemoglobin e - beta-thalassemia10.6
25hepatitis10.6
26delta-beta thalassemia10.6
27hemoglobin e disease10.5
28heinz body anemia10.5HBA2
29hemochromatosis10.5
30hepatitis c10.4
31osteoporosis10.4
32myelodysplastic syndromes10.4
33thalassemia, hispanic gamma-delta-beta10.4
34hb bart's hydrops fetalis10.4
35alpha-thalassemia - intellectual disability syndrome linked to chromosome 1610.4
36siderosis10.4
37hemoglobin sickle-beta thalassemia10.4
38vascular cancer10.4HBA1, HBA2
39capillary hemangioma10.4HBA1, HBA2
40epithelioid sarcoma10.4HBA2, HBA1
41thyroiditis10.3
42lymphangioma10.3HBA1, HBA2
43hemosiderosis10.3
44hemangiopericytoma10.3HBA1, HBA2
45hypoparathyroidism10.3
46hemoglobin c - beta-thalassemia10.3
47endotheliitis10.3
48cerebritis10.3
49alpha-thalassemia-abnormal morphogenesis10.3
50hemoglobin constant spring10.3

Graphical network of the top 20 diseases related to Alpha Thalassemia:



Diseases related to alpha thalassemia

Symptoms for Alpha Thalassemia

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Clinical features from OMIM:

604131,613978,141800,301040,141750

Symptoms:

48 (show all 13)
  • microcytic anemia
  • hemoglobinosis/hemoglobinopathy
  • autosomal recessive inheritance
  • biliary/gallbladder stones/lithiasis/cholecystitis
  • hepatitis/icterus/cholestasis
  • splenomegaly
  • hypersplenism
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • anaemia
  • hemolytic anemia
  • myelodysplastic syndrome
  • hydrops fetalis

HPO human phenotypes related to Alpha Thalassemia:

(show all 10)
id Description Frequency HPO Source Accession
1 microcytic anemia hallmark (90%) HP:0001935
2 abnormality of the heme biosynthetic pathway hallmark (90%) HP:0010472
3 biliary tract abnormality occasional (7.5%) HP:0001080
4 splenomegaly occasional (7.5%) HP:0001744
5 hydrops fetalis occasional (7.5%) HP:0001789
6 hemolytic anemia occasional (7.5%) HP:0001878
7 hypersplenism occasional (7.5%) HP:0001971
8 myelodysplasia occasional (7.5%) HP:0002863
9 abnormality of immune system physiology occasional (7.5%) HP:0010978
10 cognitive impairment occasional (7.5%) HP:0100543

Drugs & Therapeutics for Alpha Thalassemia

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Drug clinical trials:

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Search NIH Clinical Center for Alpha Thalassemia

Genetic Tests for Alpha Thalassemia

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Genetic tests related to Alpha Thalassemia:

id Genetic test Affiliating Genes
1 Alpha-Thalassemia20 HBZ
2 Alpha Thalassemia22
3 Hemoglobin H Disease22

Anatomical Context for Alpha Thalassemia

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MalaCards organs/tissues related to Alpha Thalassemia:

32
Bone, Heart, Testes, Spleen, Bone marrow, Liver, Lung, Skin, Skeletal muscle, Kidney, Myeloid

Animal Models for Alpha Thalassemia or affiliated genes

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MGI Mouse Phenotypes related to Alpha Thalassemia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.4HBB, ATRX, SMARCA2, HBA1, HBZ
2MP:00053788.3SMARCA2, HBA2, HBZ, HBB, G6PD, ATRX
3MP:00053847.9SMARCA2, SMARCA1, SMARCA4, ATRX, HBA2, G6PD
4MP:00107687.6ATRX, SMARCA4, SMARCA2, HBA1, HBA2, HBZ

Publications for Alpha Thalassemia

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Articles related to Alpha Thalassemia:

(show top 50)    (show all 386)
idTitleAuthorsYear
1
Association of alpha-thalassemia, TNF-alpha (-308G>A) and VCAM-1 (c.1238G>C) gene polymorphisms with cerebrovascular disease in a newborn cohort of 411 children with sickle cell anemia. (25175566)
2014
2
Alpha thalassemia gene mutations in neonates from Mazandaran, Iran, 2012. (24074530)
2013
3
Detection of common deletional alpha-thalassemia spectrum by molecular technique in kelantan, northeastern malaysia. (22888447)
2012
4
Was alpha-thalassemia searched as a cause of non-immune "hydrops fetalis?". (21428207)
2010
5
alpha-Thalassemia-like globin gene expression by primitive erythrocytes derived from human embryonic stem cells. (20353349)
2010
6
X-linked alpha-thalassemia/mental retardation syndrome]. (19489441)
2009
7
Frequency of background and radiation-induced apoptosis in leukocytes of individuals with alpha-thalassemia variants, assessed by the neutral comet assay. (19657840)
2009
8
Hemoglobin profiles and hematologic features of thalassemic newborns: application to screening of alpha-thalassemia 1 and hemoglobin E. (18976009)
2008
9
alpha-thalassemia mutations in Khuzestan Province, Southwest Iran. (19065332)
2008
10
G6PD deficiency, absence of alpha-thalassemia, and hemolytic rate at baseline are significant independent risk factors for abnormally high cerebral velocities in patients with sickle cell anemia. (18772456)
2008
11
Consanguinity affects selection of alpha-thalassemia genotypes and the size of populations under selection pressure from malaria. (18092206)
2007
12
Three new alpha-thalassemia point mutations ascertained through newborn screening. (16798638)
2006
13
Molecular characterization of alpha-thalassemia in the Mexican population. (16958299)
2006
14
Hematologic differences between African-Americans and whites: the roles of iron deficiency and alpha-thalassemia on hemoglobin levels and mean corpuscular volume. (15790781)
2005
15
Alpha-thalassemia/mental retardation syndrome in a 45,X male. (15633163)
2005
16
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
17
Alpha-thalassemia among tribal populations of Eastern India. (16370488)
2005
18
Alpha-thalassemia: Hb H disease and Hb Barts hydrops fetalis. (16339648)
2005
19
Diagnosis and management of alpha thalassemia disorders. (16339710)
2005
20
High frequency of deletional alpha-thalassemia in beta-thalassemia trait: implications for genetic counseling. (15224373)
2004
21
Leftward -alpha4.2 deletion alpha-thalassemia in a patient of northern European extraction. (14707709)
2004
22
A rare 33 bp in-frame deletion (alpha63-74 or alpha64-74 or alpha65-75) in the alpha1-globin gene causing alpha(+)-thalassemia: a second observation. (15182056)
2004
23
Molecular and hematologic features of hemoglobin E heterozygotes with different forms of alpha-thalassemia in Thailand. (12955472)
2003
24
Renal tubular dysfunction in alpha-thalassemia. (12644919)
2003
25
Hb Prato [alpha31(B12)Arg --> Ser (A2)] and alpha-thalassemia in a Taiwanese. (12603094)
2003
26
Using reticulocyte indices to identify alpha-thalassemia--a preliminary report. (12971500)
2002
27
Routine screening of (--(SEA)) alpha-thalassemia deletion by an enzyme-linked immunosorbent assay for embryonic zeta-globin chains. (12145460)
2002
28
Molecular spectrum of alpha-thalassemia in Tunisia: epidemiology and detection at birth. (12484630)
2002
29
Alpha-thalassemia does not significantly contribute to the low MCV level of Hb C trait. (12403496)
2002
30
Rapid differentiation of five common alpha-thalassemia genotypes by polymerase chain reaction. (11283524)
2001
31
Two thalassemia intermedia patients with delta beta/beta-thalassemia and a deletional type alpha-thalassemia. (11146584)
2001
32
Hb Bart's levels in cord blood and alpha-thalassemia mutations in Cyprus. (10975437)
2000
33
Single-tube multiplex-PCR screen for common deletional determinants of alpha-thalassemia. (10607725)
2000
34
alpha-thalassemia resulting from a negative chromosomal position effect. (10910890)
2000
35
Influence of alpha-thalassemia trait on the prevalence and severity of anemia in pregnancy among women in Kuwait. (11154980)
2000
36
Hydrops fetalis caused by alpha-thalassemia: an emerging health care problem. (9516118)
1998
37
Pyruvate kinase deficiency in an alpha-thalassemia family: first case report in Thailand. (9640602)
1997
38
alpha+-Thalassemia protects children against disease caused by other infections as well as malaria. (9405682)
1997
39
Mouse zeta- and alpha-globin genes: embryonic survival, alpha-thalassemia, and genetic background effects. (9242562)
1997
40
A fast hemoglobin variant on newborn screening is associated with alpha-thalassemia trait. (9118593)
1997
41
Effect of alpha-thalassemia and beta-globin gene cluster haplotypes on the hematological and clinical features of sickle-cell anemia in Brazil. (8892730)
1996
42
The alpha / beta and alpha 2 / alpha 1-globin mRNA ratios in different forms of alpha-thalassemia. (8611658)
1996
43
Lumping Juberg-Marsidi syndrome and X-linked alpha-thalassemia/mental retardation syndrome? (7726226)
1995
44
Paradoxical increase of painful crises in sickle cell patients with alpha-thalassemia. (7492800)
1995
45
Alpha-thalassemia in the four major aboriginal groups in Taiwan. (8365731)
1993
46
Beta-globin gene cluster haplotype and alpha-thalassemia do not correlate with the acute clinical manifestations of sickle cell disease in children. (8400306)
1993
47
Human embryonic zeta-globin chain expression in deletional alpha-thalassemias. (1627804)
1992
48
Initiation codon mutation as a cause of alpha thalassemia. (6490612)
1984
49
Masking of macrocytosis by alpha-thalassemia in blacks with pernicious anemia. (6290886)
1982
50
alpha Thalassemia minor trait accompanied by clinical oral signs. Report of a case. (266681)
1977

Variations for Alpha Thalassemia

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Clinvar genetic disease variations for Alpha Thalassemia:

6 (show all 25)
id Gene Name Type Significance SNP ID Assembly Location
1HBBNM_000518.4(HBB): c.59A> G (p.Asn20Ser)single nucleotide variantPathogenicrs33972047GRCh37Chr 11, 5248193: 5248193
2HBBNM_000518.4(HBB): c.52A> T (p.Lys18Ter)single nucleotide variantPathogenicrs33986703GRCh37Chr 11, 5248200: 5248200
3HBBNM_000518.4(HBB): c.118C> T (p.Gln40Ter)single nucleotide variantPathogenicrs11549407GRCh37Chr 11, 5248004: 5248004
4HBBNM_000518.4(HBB): c.25_26delAA (p.Lys9Valfs)deletionPathogenicrs35497102GRCh37Chr 11, 5248226: 5248227
5HBBNM_000518.4(HBB): c.135delC (p.Phe46Leufs)deletionPathogenicrs80356820GRCh37Chr 11, 5247987: 5247987
6HBBNM_000518.4(HBB): c.126_129delCTTT (p.Phe42fs)deletionPathogenicrs80356821GRCh37Chr 11, 5247993: 5247996
7HBBNM_000518.4(HBB): c.92+1G> Asingle nucleotide variantPathogenicrs33971440GRCh37Chr 11, 5248159: 5248159
8HBBNM_000518.4(HBB): c.315+1G> Asingle nucleotide variantPathogenicrs33945777GRCh37Chr 11, 5247806: 5247806
9HBBNM_000518.4(HBB): c.92+5G> Csingle nucleotide variantPathogenicrs33915217GRCh37Chr 11, 5248155: 5248155
10HBBNM_000518.4(HBB): c.92+6T> Csingle nucleotide variantPathogenicrs35724775GRCh37Chr 11, 5248154: 5248154
11HBBNM_000518.4(HBB): c.93-21G> Asingle nucleotide variantPathogenicrs35004220GRCh37Chr 11, 5248050: 5248050
12HBBNM_000518.4(HBB): c.316-106C> Gsingle nucleotide variantPathogenicrs34690599GRCh37Chr 11, 5247062: 5247062
13HBBNM_000518.4(HBB): c.316-197C> Tsingle nucleotide variantPathogenicrs34451549GRCh37Chr 11, 5247153: 5247153
14HBBNM_000518.4(HBB): c.75T> A (p.Gly25=)single nucleotide variantPathogenicrs33951465GRCh37Chr 11, 5248177: 5248177
15HBBNM_000518.4(HBB): c.-50-88C> Tsingle nucleotide variantPathogenicrs33944208GRCh37Chr 11, 5248389: 5248389
16HBBNM_000518.4(HBB): c.-136C> Gsingle nucleotide variantLikely pathogenicrs33994806GRCh37Chr 11, 5248387: 5248387
17HBBNM_000518.4(HBB): c.-50-29A> Gsingle nucleotide variantPathogenicrs34598529GRCh37Chr 11, 5248330: 5248330
18HBBNM_000518.4(HBB): c.-78A> Gsingle nucleotide variantPathogenicrs33931746GRCh37Chr 11, 5248329: 5248329
19HBA2NM_000517.4(HBA2): c.2T> C (p.Met1Thr)single nucleotide variantPathogenicrs111033603GRCh37Chr 16, 222913: 222913
20HBA2NM_000517.4(HBA2): c.349G> T (p.Glu117Ter)single nucleotide variantPathogenicrs33987053GRCh37Chr 16, 223519: 223519
21HBA2NM_000517.4(HBA2): c.70G> T (p.Glu24Ter)single nucleotide variantPathogenicrs281864819GRCh37Chr 16, 222981: 222981
22HBA1HBA1, 1-BP DEL, 354CdeletionPathogenic
23HBBNM_000518.4(HBB): c.316-2A> Csingle nucleotide variantPathogenicrs33914668GRCh37Chr 11, 5246958: 5246958
24HBBNM_000518.4(HBB): c.316-2A> Gsingle nucleotide variantPathogenicrs33914668GRCh37Chr 11, 5246958: 5246958
25HBBNM_000518.4(HBB): c.27dupG (p.Ser10Valfs*14)duplicationPathogenicrs35699606GRCh37Chr 11, 5248224: 5248225

Expression for genes affiliated with Alpha Thalassemia

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Expression patterns in normal tissues for genes affiliated with Alpha Thalassemia

Search GEO for disease gene expression data for Alpha Thalassemia.

Pathways for genes affiliated with Alpha Thalassemia

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Compounds for genes affiliated with Alpha Thalassemia

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Sources:
44Novoseek, 11DrugBank, 50PharmGKB, 28IUPHAR, 24HMDB, 2BitterDB
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Compounds related to Alpha Thalassemia according to GeneCards/GeneDecks:

(show all 30)
idCompoundScoreTop Affiliating Genes
1iron dextran44 1111.2HBA1, HBB
2de-oxy4410.1HBB, HBG2
3s-nitrosocysteine4410.1HBB, HBG2
4hmba4410.1HBB, HBA2
5mefloquine44 50 1112.1G6PD, HBA1
68-aminoquinoline4410.1G6PD, HBG2
7phenazopyridine50 44 1112.1HBG2, G6PD
8phenazine methosulfate4410.1HBG2, G6PD
9no-dimethylhydroxylamine4410.1G6PD, HBG2
10sodium nitrite44 5011.0HBG2, G6PD
11primaquine44 50 1112.0G6PD, HBG2
12scopolamine44 28 24 1113.0G6PD, HBG2
13methylene449.9G6PD, HBG2
14sulfamethoxazole50 44 1111.9G6PD, HBG2
15tert-butylhydroperoxide449.8G6PD, HBG2
16hydroxyurea44 50 1111.8HBB, HBG2, HBA2
17tocopherol449.8G6PD, HBG2
18valine449.8HBA2, HBB, G6PD
19dapsone44 2 50 1112.8G6PD, HBG2
20cellulose acetate449.7G6PD, HBA2
21glucose 6-phosphate44 2410.7G6PD, HBB, HBG2
22gssg449.7HBG2, G6PD
23iron44 2410.5HBB, HBG2, HBA2, HBA1
2423-diphosphoglycerate449.5G6PD, HBB, HBG2, HBA2
25oligonucleotide449.3SMARCA4, HBA2, HBZ, HBB
26oxygen44 2410.2HBA1, HBA2, HBG2, HBB, G6PD
27atp44 2810.0ATRX, SMARCA4, HBA2, HBB, G6PD
28histidine449.0SMARCA4, HBG2, HBB
29estrogen448.8G6PD, HBB, SMARCA2, SMARCA4
30heme28 24 1110.7HBA1, HBG2, HBZ, HBQ1, HBB

GO Terms for genes affiliated with Alpha Thalassemia

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Cellular components related to Alpha Thalassemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1haptoglobin-hemoglobin complexGO:03183810.1HBA2, HBB
2endocytic vesicle lumenGO:0716829.9HBB, HBA2
3WINAC complexGO:0717789.6SMARCA2, SMARCA4
4npBAF complexGO:0715649.6SMARCA2, SMARCA4
5nBAF complexGO:0715659.5SMARCA2, SMARCA4
6blood microparticleGO:0725629.4HBA2, HBG2, HBB
7SWI/SNF complexGO:0165149.2SMARCA2, SMARCA4
8nuclear chromatinGO:0007909.1SMARCA4, SMARCA1, SMARCA2
9hemoglobin complexGO:0058338.6HBB, HBQ1, HBZ, HBG2, HBA2

Biological processes related to Alpha Thalassemia according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1hydrogen peroxide catabolic processGO:04274410.0HBA2, HBB
2erythrocyte maturationGO:04324910.0HBZ, G6PD
3positive regulation of cell deathGO:01094210.0HBB, HBA2
4bicarbonate transportGO:0157019.9HBB, HBA2
5protein heterooligomerizationGO:0512919.9HBA2, HBB
6response to hydrogen peroxideGO:0425429.8HBA2, HBB
7aortic smooth muscle cell differentiationGO:0358879.7SMARCA2, SMARCA4
8oxidation-reduction processGO:0551149.7HBA2, G6PD, HBB
9forebrain developmentGO:0309009.4SMARCA4, ATRX
10oxygen transportGO:0156719.3HBQ1, HBB, HBA2
11chromatin remodelingGO:0063389.2SMARCA4, SMARCA1, SMARCA2
12ATP catabolic processGO:0062009.1SMARCA2, SMARCA4, SMARCA1

Molecular functions related to Alpha Thalassemia according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1haptoglobin bindingGO:0317209.9HBA2, HBB
2peroxidase activityGO:0046019.6HBA2, HBB
3RNA polymerase II transcription coactivator activityGO:0011059.5SMARCA2, SMARCA4
4DNA-dependent ATPase activityGO:0080949.0SMARCA4, SMARCA1, SMARCA2
5helicase activityGO:0043868.8ATRX, SMARCA2, SMARCA1, SMARCA4
6oxygen transporter activityGO:0053448.6HBZ, HBA2, HBG2, HBQ1, HBB
7oxygen bindingGO:0198258.6HBZ, HBA2, HBG2, HBB, HBQ1
8heme bindingGO:0200378.5HBA2, HBG2, HBQ1, HBZ, HBB
9iron ion bindingGO:0055068.5HBG2, HBQ1, HBB, HBZ, HBA2
10protein bindingGO:0055156.6ARHGAP26, G6PD, HBZ, HBB, ATRX, HBA2

Products for genes affiliated with Alpha Thalassemia

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  • Antibodies
  • Proteins
  • Lysates

Sources for Alpha 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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet