MCID: ALP006
MIFTS: 75

Alpha Thalassemia malady

Immune diseases, Blood diseases, Nephrological diseases, Neuronal diseases categories

Summaries for Alpha Thalassemia

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 33MedlinePlus, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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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: Alpha Thalassemia, also known as alpha-thalassemia, is related to beta thalassemia and alpha-thalassemia x-linked intellectual disability syndrome, and has symptoms including hydrops fetalis, myelodysplastic syndrome and hemoglobinosis/hemoglobinopathy. An important gene associated with Alpha Thalassemia is HBA2 (hemoglobin, alpha 2), and among its related pathways are O2/CO2 exchange in erythrocytes and Selenium Pathway. The compounds 4-[(5-methoxy-2-methylphenoxy)methyl]pyridine and 2-{4-[(3,5-DIMETHYLANILINO)-CARBONYL-METHYL]-PHENOXY}-2-METHYLPROPIONIC ACID have been mentioned in the context of this disorder. Affiliated tissues include bone, heart and testes, and related mouse phenotypes are embryogenesis and normal.

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:63 Alpha-thalassemia (α-thalassemia, α-thalassaemia) is a form of thalassemia involving the genes HBA1... more...

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

GeneReviews summary for a-thal

Aliases & Classifications for Alpha Thalassemia

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8Disease Ontology, 42NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 22GTR, 60UMLS, 19GeneReviews, 44Novoseek, 48Orphanet, 33MedlinePlus, 9diseasecard, 20GeneTests, 46OMIM, 56SNOMED-CT, 39NCIt, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 25ICD10
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Classifications:



Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

alpha thalassemia 8 42 21 10
alpha-thalassemia 8 19 42 21 44 48 60
thalassemia, alpha- 9 20 22 46
hemoglobin h disease 8 22 60
thalassemia 10 44 33
alpha-thalassemia/mental retardation syndrome, nondeletion type, x-linked 60
alpha thalassaemia 8
α-thalassemia 21
a-thalassemia 42


External Ids:

Disease Ontology8 DOID:1099
NCIt39 C34368
MeSH34 D017085
MESH via Orphanet35 D017085
ICD10 via Orphanet26 D56.0
SNOMED-CT via Orphanet57 36467003, 68913001
UMLS via Orphanet61 C0002312, C1456873
ICD1025 D56.0

Related Diseases for Alpha Thalassemia

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Sources:
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 Alpha Thalassemia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 257)
idRelated DiseaseScoreTop Affiliating Genes
1beta thalassemia31.1HFE, HBA2, HBB
2alpha-thalassemia x-linked intellectual disability syndrome31.0ATRX, HELLS
3sickle cell anemia30.8HBB, HBA2, HBA1
4malaria30.7G6PD, HBA2, HBB, HP
5sickle cell disease30.7HP, G6PD, HBB, HBG1, HBA2, UGT1A1
6alpha-thalassemia/mental retardation syndrome30.6ATRX
7hepatitis c30.6HFE, HELLS, HP
8siderosis30.5HFE
9diabetes mellitus30.3HBA2, HFE, HP, HBA1, G6PD
10hemoglobinopathy30.3HBA2, G6PD, HP, HBB, HBG1, HFE
11microcytic anemia30.2G6PD, HBA2
12hemochromatosis30.1HFE, HP, HBB
13acute leukemia30.1HBA2, WT1, CREBBP, HFE
14leukemia30.1HBA2, HP, DAXX, HELLS, WT1, CREBBP
15favism30.0G6PD, HP
16hepatocellular carcinoma30.0HBB, UGT1A1, HFE
17cholelithiasis30.0UGT1A1
18hereditary spherocytosis30.0HFE, G6PD, UGT1A1
19hemolytic anemia29.9HBA2, HP, G6PD, UGT1A1, HFE, HBB
20deficiency anemia29.9HFE, HBB, G6PD, HBA2, HBG1, HP
21methemoglobinemia29.9G6PD, HP
22polycythemia29.9HBB, G6PD, HBA2
23atherosclerosis29.9CREBBP, HP, G6PD
24hydrops fetalis29.6HBA2, HBB
25gilbert syndrome29.6G6PD, UGT1A1
26wilson disease29.6G6PD, HFE
27hemoglobinuria29.6G6PD, HP
28congenital hemolytic anemia29.6G6PD, HP
29sarcoma29.6HBA2, HBA1, WT1, HELLS
30neonatal jaundice29.6G6PD, UGT1A1
31thalassemia11.3
32iron deficiency anemia10.5
33hepatitis10.5
34osteoporosis10.4
35thalassemia, hispanic gamma-delta-beta10.4
36hemosiderosis10.3
37hemoglobin h disease, nondeletional10.3
38alpha-thalassemia - intellectual deficit syndrome linked to chromosome 1610.3
39hemoglobin sickle-beta thalassemia10.3
40thyroiditis10.3
41thalassemia minor10.3
42hypoparathyroidism10.3
43cerebritis10.2
44alpha-thalassemia-abnormal morphogenesis10.2
45alpha-thalassemia myelodysplasia syndrome, somatic10.2
46hb bart's hydrops fetalis10.2
47hereditary persistence of fetal hemoglobin10.2
48hepatitis a10.2
49hypogonadism10.2
50liver disease10.2

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



Diseases related to alpha thalassemia

Clinical Features for Alpha Thalassemia

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

141750,613978,301040,141800,604131

Symptoms:

48 (show all 13)
  • hydrops fetalis
  • myelodysplastic syndrome
  • 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
  • microcytic anemia

Drugs & Therapeutics for Alpha Thalassemia

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Alpha Thalassemia

Drug clinical trials:

Search ClinicalTrials for Alpha Thalassemia

Search NIH Clinical Center for Alpha Thalassemia

Search CenterWatch for Alpha Thalassemia

Genetic Tests for Alpha Thalassemia

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20GeneTests, 22GTR
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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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32MalaCards
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MalaCards organs/tissues related to Alpha Thalassemia:

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

Animal Models for Alpha Thalassemia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Alpha Thalassemia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053809.7HELLS, DNMT3L, DAXX
2MP:00028739.5DAXX, HBB, HBG1, DNMT3L, HFE, CREBBP
3MP:00053979.3HELLS, WT1, G6PD, CREBBP, HFE, HBZ
4MP:00053789.1HELLS, SOX8, WT1, G6PD, CREBBP, ATRX
5MP:00053769.0HELLS, WT1, G6PD, CREBBP, ATRX, HFE
6MP:00107688.8DAXX, HELLS, WT1, G6PD, CREBBP, ATRX

Publications for Alpha Thalassemia

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Sources:
50PubMed
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Articles related to Alpha Thalassemia:

(show top 50)    (show all 425)
idTitleAuthorsYear
1
Acquired alpha thalassemia myelodyslastic/myeloproliferative syndrome (ATMDS): evolution on hypomethylating agent therapy. (21831427)
2011
2
Detection of non-deletional alpha-thalassemia in prenatal screening program. (20528902)
2010
3
Extended molecular spectrum of beta- and alpha-thalassemia in Oman. (20353347)
2010
4
Complex interaction of Hb Q-Thailand and Hb E with alpha(0)-thalassemia and hereditary persistence of fetal hemoglobin in a Chinese family. (20333523)
2010
5
A comprehensive, simple molecular assay of common deletions and mutations causing alpha-thalassemia in Southeast Asia and southern China. (20425799)
2010
6
Hb Charlieu [alpha106(G13)Leu-->Pro (alpha1)]: a new phenotypically silent hemoglobin variant associated with a mild alpha-thalassemia phenotype. (20642334)
2010
7
Molecular spectrum of alpha-thalassemia mutations in microcytic hypochromic anemia patients from Saudi Arabia. (19371220)
2009
8
alpha-thalassemia mutations in Khuzestan Province, Southwest Iran. (19065332)
2008
9
Associations between alpha+-thalassemia and Plasmodium falciparum malarial infection in northeastern Tanzania. (17597460)
2007
10
Elucidating the spectrum of alpha-thalassemia mutations in Iran. (17606454)
2007
11
Validation of a reverse-hybridization StripAssay for the simultaneous analysis of common alpha-thalassemia point mutations and deletions. (17484620)
2007
12
Co-inheritance of alpha and beta-thalassemia in a Jordanian family. (16910233)
2006
13
A Melanesian alpha-thalassemia mutation suggests a novel mechanism for regulating gene expression. (17076879)
2006
14
Alpha-thalassemia/mental retardation syndrome in a 45,X male. (15633163)
2005
15
Alpha-thalassemia: Hb H disease and Hb Barts hydrops fetalis. (16339648)
2005
16
A novel 5' ATRX mutation with splicing consequences in acquired alpha thalassemia-myelodysplastic syndrome. (16266892)
2005
17
Rapid detection of deletional alpha-thalassemia by an oligonucleotide microarray. (16315259)
2005
18
Alpha-thalassemia major presenting in a term neonate without hydrops. (16328666)
2005
19
The influence of uridine diphosphate glucuronosyl transferase 1A promoter polymorphisms, beta-globin gene haplotype, co-inherited alpha-thalassemia trait and Hb F on steady-state serum bilirubin levels in sickle cell anemia. (16004608)
2005
20
A new highly unstable alpha chain variant causing alpha(+)-thalassemia: Hb Zurich Albisrieden [alpha59(E8)Gly-->Arg (alpha2)]. (15658192)
2004
21
Evaluation of alpha hemoglobin stabilizing protein (AHSP) as a genetic modifier in patients with beta thalassemia. (14715623)
2004
22
Multiple minisequencing screen for seven southeast Asian nondeletional alpha-thalassemia mutations. (12709372)
2003
23
Homozygous alpha-thalassemia treated with intrauterine transfusions and postnatal hematopoietic stem cell transplantation. (12858209)
2003
24
Hb H disease among Tunisians: molecular characterization of alpha-thalassemia determinants and hematological findings. (12603097)
2003
25
Compound heterozygosity for Hb Korle-Bu (beta(73); Asp-Asn) and Hb E (beta(26); Glu-Lys) with a 3.7-kb deletional alpha-thalassemia in Thai patients. (12185510)
2002
26
A rapid and reliable 7-deletion multiplex polymerase chain reaction assay for alpha-thalassemia. (11439976)
2001
27
Hb Bart's levels in cord blood and alpha-thalassemia mutations in Cyprus. (10975437)
2000
28
An infant with severe combined immunodeficiency syndrome, an alpha-thalassemia trait and renal Fanconi syndrome. (10918411)
2000
29
Molecular diagnosis in a Korean family with thalassemia intermedia due to co-inheritance of triplicated alpha-globin genes (alphaalpha/alphaalphaalpha(anti 3.7)) and beta-thalassemia trait (IVS-II-1 G-->A)]. (11876981)
2000
30
A single tube multiplex PCR method to detect the common alpha+ thalassemia alleles. (10744390)
2000
31
Prevalence study and molecular characterization of alpha-thalassemia in Filipinos. (10460348)
1999
32
Prenatal ultrasonographic prediction of homozygous type 1 alpha-thalassemia at 12 to 13 weeks of gestation. (9914594)
1999
33
Effects of alpha-thalassemia on pharmacokinetics of the antimalarial agent artesunate. (9736558)
1998
34
alpha-Thalassemia and hereditary spherocytosis in the same patient: the interaction of two diseases. (9615327)
1998
35
Pyruvate kinase deficiency in an alpha-thalassemia family: first case report in Thailand. (9640602)
1997
36
Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without alpha-thalassemia. (8644709)
1996
37
Interleukin-1-beta, tumour necrosis factor-alpha, islet-cell antibody, and insulin secretion in children with thalassemia major on long-term blood transfusion. (9009565)
1996
38
Mutations in a putative global transcriptional regulator cause X- linked mental retardation with alpha-thalassemia (ATR-X syndrome). (7697714)
1995
39
X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: a new kindred with severe genital anomalies and mild hematologic expression. (7726227)
1995
40
Interaction of rare illegitimate recombination event and a poly A addition site mutation resulting in a severe form of alpha thalassemia. (8193372)
1994
41
Rapid and simultaneous non-radioactive method for detecting alpha-thalassemia 1 (SEA type) and Hb Constant Spring genes. (7925865)
1994
42
Hb I-Toulouse [beta 66(E10)Lys->Glu] in association with alpha-thalassemia. (7928379)
1994
43
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
44
alpha-Interferon treatment of chronic hepatitis C in young patients with homozygous beta-thalassemia. (1289187)
1992
45
Alpha-thalassemia resulting from deletion of regulatory sequences far upstream of the alpha-globin structural genes. (1715793)
1991
46
Hemoglobin Dhonburi alpha 2 beta 2 126 (H4) Val-->Gly: a new unstable beta variant producing a beta-thalassemia intermedia phenotype in association with beta zero-thalassemia. (2399911)
1990
47
Impaired parasite growth and increased susceptibility to phagocytosis of Plasmodium falciparum infected alpha-thalassemia or hemoglobin Constant Spring red blood cells. (3281435)
1988
48
Initiation codon mutation as a cause of alpha thalassemia. (6490612)
1984
49
Hb A2-Canada or alpha 2 delta 2 99(G1) Asp replaced by Asn, a newly discovered delta chain variant with increased oxygen affinity occurring in cis to beta-thalassemia. (7129931)
1982
50
Hemoglobin QIndia, alpha 64 (E13) Asp replaced by His, and beta-thalassemia in a Canadian family. (949043)
1976

Genetic Variations for Alpha Thalassemia

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Expression for genes affiliated with Alpha Thalassemia

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1BioGPS, 15Gene Expression Omnibus DataSets
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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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53Reactome, 37NCBI BioSystems Database, 29KEGG
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Pathways related to Alpha Thalassemia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.2HBB, HBA1
210.1HBA1, HBB, HBA2
310.1HBA1, HBB, HBA2
410.1HBA1, HBB, HBA2
5
Hide members
10.1HP, HBA1, HBB

Compounds for genes affiliated with Alpha Thalassemia

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11DrugBank, 44Novoseek, 24HMDB, 49PharmGKB, 28IUPHAR, 2BitterDB, 59Tocris Bioscience
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Compounds related to Alpha Thalassemia according to GeneCards/GeneDecks:

(show all 46)
idCompoundScoreTop Affiliating Genes
14-[(5-methoxy-2-methylphenoxy)methyl]pyridine1110.6HBB, HBA1
22-{4-[(3,5-DIMETHYLANILINO)-CARBONYL-METHYL]-PHENOXY}-2-METHYLPROPIONIC ACID1110.6HBA1, HBB
3SEBACIC ACID1110.6HBA1, HBB
41,3,5-BENZENETRICARBOXYLIC ACID1110.6HBA1, HBB
52,6-DICARBOXYNAPHTHALENE1110.6HBB, HBA1
64-Carboxycinnamic Acid1110.6HBA1, HBB
72-[4-({[(3,5-DICHLOROPHENYL)AMINO]CARBONYL}AMINO)PHENOXY]-2-METHYLPROPANOIC ACID1110.6HBA1, HBB
82-[(2-methoxy-5-methylphenoxy)methyl]pyridine1110.6HBA1, HBB
9iron dextran44 1111.5HBB, HBA1
10thiobarbituric acid4410.4HP, G6PD
11cellulose acetate4410.4HP, HBA2, G6PD
1223-diphosphoglycerate4410.4HP, HBB, HBA2, G6PD
13benzidine4410.4UGT1A1, HBG1, HBB, HP
14dimethyl sulfate4410.4HBB, HBG1
155-aminolevulinic acid44 2411.4HBB, HBG1, HFE, CREBBP
16glucose 6-phosphate44 2411.4HP, HBB, UGT1A1, G6PD
17mefloquine44 1111.3HBA1, G6PD
18ribavirin44 49 1112.3HELLS, G6PD, HP
19uric acid44 2411.3G6PD, HFE, HP
20hydroxyurea44 49 1112.3HELLS, UGT1A1, HBA2, HBG1, HBB
21butyrate4410.2WT1, CREBBP, HBA2, HBG1, HBB
22porphobilinogen44 11 2412.2HBB, HBG1
23tamoxifen44 49 28 1113.2HBB, CREBBP, UGT1A1, G6PD
24polyacrylamide4410.2HELLS, CREBBP, HBG1, HBB, HP
25methionine4410.1HELLS, CREBBP, HBA2, HBB, HP
26cytosine44 2411.1WT1, ATRX, DNMT3L
27leucine4410.1HELLS, UGT1A1, HBA2, HBG1, HBB
28iron44 2411.1HFE, HBA2, HBG1, HBB, HBA1, HP
29glutamine4410.1HELLS, WT1, G6PD, CREBBP, HBB
30heme28 11 2412.1HFE, HBZ, HBG1, HBQ1, HBB, HBA1
31azathioprine44 49 2 1113.1HBB, HBG1, G6PD
32aspartate4410.1G6PD, UGT1A1, HFE, HBB, HP
33zinc protoporphyrin4410.1HP, G6PD
34histidine4410.1HELLS, WT1, UGT1A1, CREBBP, HFE, HBB
35lysine4410.1DAXX, HBB, CREBBP, WT1, HELLS
36doxorubicin44 49 1112.0HELLS, WT1, G6PD, CREBBP, HBG1, DAXX
37oxygen44 2411.0G6PD, CREBBP, HBA2, HBG1, HBB, HBA1
38testosterone44 59 11 2413.0WT1, G6PD, UGT1A1, CREBBP, HFE, HP
39oligonucleotide449.9HELLS, WT1, HFE, HBZ, HBA2, HBB
40alanine449.9HELLS, UGT1A1, CREBBP, HFE, HBA2, HBB
41h2o2449.9HELLS, G6PD, HBB, HP, DAXX
42atp44 2810.9HELLS, G6PD, CREBBP, ATRX, HBA2, HBB
43cysteine449.8HELLS, WT1, CREBBP, HFE, HBB, HP
44zinc44 2410.8HELLS, WT1, CREBBP, ATRX, HFE, DNMT3L
45tyrosine449.7HELLS, WT1, UGT1A1, CREBBP, HFE, HBA2
46steroid449.5WT1, UGT1A1, CREBBP, HBB, HP

GO Terms for genes affiliated with Alpha Thalassemia

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16Gene Ontology
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Cellular components related to Alpha Thalassemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nuclear heterochromatinGO:00572010.2DNMT3L, ATRX
2haptoglobin-hemoglobin complexGO:03183810.0HBA2, HBB, HP
3hemoglobin complexGO:0058339.8HBB, HBQ1, HBG1, HBA2, HBZ
4endocytic vesicle lumenGO:0716829.8HP, HBB, HBA2

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

idNameGO IDScoreTop Affiliating Genes
1DNA methylationGO:00630610.2DNMT3L, ATRX
2oxygen transportGO:01567110.1HBB, HBQ1, HBA2
3positive regulation of cell deathGO:01094210.1HP, HBB, HBA2
4response to hydrogen peroxideGO:04254210.0HBA2, HBB, HP
5erythrocyte maturationGO:0432499.9HBZ, G6PD

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1haptoglobin bindingGO:03172010.2HBB, HBA2
2oxygen transporter activityGO:00534410.0HBB, HBQ1, HBG1, HBA2, HBZ
3oxygen bindingGO:0198259.9HBZ, HBA2, HBG1, HBQ1, HBB
4hemoglobin bindingGO:0304929.9HBB, HP
5heme bindingGO:0200379.9HBB, HBQ1, HBG1, HBA2, HBZ
6iron ion bindingGO:0055069.8HBZ, HBA2, HBG1, HBQ1, HBB
7protein bindingGO:0055158.8WT1, G6PD, ARHGAP26, CREBBP, ATRX, HFE

Products for genes affiliated with Alpha Thalassemia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet