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 myelodysplastic syndrome, hemolytic anemia and intellectual deficit/mental/psychomotor retardation/learning disability. An important gene associated with Alpha Thalassemia is HBA2 (hemoglobin, alpha 2), and among its related pathways are O2/CO2 exchange in erythrocytes and Malaria. 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)
  • myelodysplastic syndrome
  • hemolytic anemia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • splenomegaly
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • hepatitis/icterus/cholestasis
  • anaemia
  • hydrops fetalis
  • microcytic anemia
  • hemoglobinosis/hemoglobinopathy
  • biliary/gallbladder stones/lithiasis/cholecystitis
  • hypersplenism
  • autosomal recessive inheritance

Drugs & Therapeutics for Alpha Thalassemia

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Sources:
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, Liver, Lung, 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:00028739.5CREBBP, HFE, DNMT3L, HBG1, HBB, DAXX
3MP:00053979.3HELLS, WT1, G6PD, CREBBP, HFE, HBZ
4MP:00053789.1DAXX, HBB, HBA2, HBZ, HFE, ATRX
5MP:00053769.0ATRX, CREBBP, G6PD, WT1, HELLS, HFE
6MP:00107688.8HP, HBB, HBA2, HBZ, DNMT3L, HFE

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
Elevated middle cerebral artery peak systolic velocity as a prenatal manifestation of heterozygous type 2 alpha-thalassemia. (23290248)
2013
2
Development and evaluation of a reverse dot blot assay for the simultaneous detection of common alpha and beta thalassemia in Chinese. (22197394)
2012
3
The first case of X-linked Alpha-thalassemia/mental retardation (ATR-X) syndrome in Korea. (21218045)
2011
4
Gene test review. Alpha-thalassemia. (21381239)
2011
5
High resolution DNA melting analysis: an application for prenatal control of alpha-thalassemia. (20225225)
2010
6
Codon 24 (TAT>TAG) and codon 32 (ATG>AGG) (Hb Rotterdam): two novel alpha2 gene mutations associated with mild alpha-thalassemia found in the same family after newborn screening. (20642333)
2010
7
Frequency of positive XmnIGgamma polymorphism and coinheritance of common alpha thalassemia mutations do not show statistically significant difference between thalassemia major and intermedia cases with homozygous IVSII-1 mutation. (19892574)
2010
8
Application of an expanded multiplex genotyping assay for the simultaneous detection of Hemoglobin Constant Spring and common deletional alpha-thalassemia mutations. (19919622)
2010
9
Complexity of alpha thalassemia: growing health problem with new approaches to screening, diagnosis, and therapy. (20712791)
2010
10
Frequency of background and radiation-induced apoptosis in leukocytes of individuals with alpha-thalassemia variants, assessed by the neutral comet assay. (19657840)
2009
11
Diagnostic value of zinc protoporphyrin in a screening strategy for alpha-thalassemia. (19187279)
2009
12
Alpha+-thalassemia trait caused by a nonsense mutation in the alpha2-globin gene: codon 54 (CAG>TAG). (19205977)
2009
13
The coinheritance of beta- and alpha- thalassemia: a review of one patient and her family. (19758967)
2009
14
alpha-Thalassemia mutation analyses in Mazandaran province, North Iran. (19373587)
2009
15
Hemoglobin profiles and hematologic features of thalassemic newborns: application to screening of alpha-thalassemia 1 and hemoglobin E. (18976009)
2008
16
Reduced risk of uncomplicated malaria episodes in children with alpha+-thalassemia in northeastern Tanzania. (18458302)
2008
17
First observation of Hb Taybe [Codons 38/39 (-Acc) Thr-->0 (alpha1)] in Greece: clinical and hematological findings in patients with co-inherited alpha+-thalassemia mutations. (18654887)
2008
18
Beta-globin gene cluster haplotypes and alpha-thalassemia in sickle cell disease patients from Trinidad. (18257074)
2008
19
Hemoglobinopathies mimicking Hb S/beta-thalassemia: Hb S/S with alpha-thalassemia and Hb S/Volga. (16628724)
2006
20
Hematologic and molecular characterization of a Sicilian cohort of alpha thalassemia carriers. (16503552)
2006
21
Hb Oegstgeest [alpha104(G11)Cys-->Ser (alpha1)]. A new hemoglobin variant associated with a mild alpha-thalassemia phenotype. (16114179)
2005
22
Heterogeneity in alpha-thalassemia interactions in Malays, Chinese and Indians in Malaysia. (16343256)
2005
23
Identification of acquired somatic mutations in the gene encoding chromatin-remodeling factor ATRX in the alpha-thalassemia myelodysplasia syndrome (ATMDS). (12858175)
2003
24
alpha-Thalassemia 2, 3.7 kb deletion and hemoglobin AC heterozygosity in pregnancy: a molecular and hematological analysis. (12542439)
2003
25
Rapid detection of six common Mediterranean and three non-Mediterranean alpha-thalassemia point mutations by reverse dot blot analysis. (14587048)
2003
26
Study on gene mutations of alpha-thalassemia in the South of China]. (12667291)
2003
27
Molecular spectrum of alpha-thalassemia in Tunisia: epidemiology and detection at birth. (12484630)
2002
28
Evaluation of clinical application of gap-PCR as a routine method for alpha-thalassemia carrier detection. (12390707)
2002
29
Alpha-thalassemia major: antenatal diagnosis and management. (11392952)
2001
30
Determination of beta-globin gene cluster haplotypes and prevalence of alpha-thalassemia in sickle cell anemia patients in Venezuela. (10814985)
2000
31
Rapid and accurate quantitation of Hb Bart's and Hb H using weak cation exchange high performance liquid chromatography: correlation with the alpha-thalassemia genotype. (10490132)
1999
32
Brief communication: Resistance to Falciparum malaria in alpha-thalassemia, oxidative stress, and hemoglobin oxidation. (10378464)
1999
33
Influence of alpha-thalassemia on cholelithiasis in SS patients with elevated Hb F. (9858792)
1998
34
alpha+-Thalassemia protects children against disease caused by other infections as well as malaria. (9405682)
1997
35
Milder clinical course of sickle cell disease in patients with alpha thalassemia in the Indian subcontinent. (9002977)
1997
36
Alpha thalassemia and its impact on other clinical conditions. (9138902)
1997
37
Alpha-interferon treatment of chronic hepatitis C after bone marrow transplantation for homozygous beta-thalassemia. (9384479)
1997
38
Hb E and alpha-thalassemia; variability in the assembly of beta E chain containing tetramers. (9140719)
1997
39
Limb defects and congenital anomalies of the genitalia in an infant with homozygous alpha-thalassemia. (9028450)
1997
40
Effect of alpha-thalassemia and beta-globin gene cluster haplotypes on the hematological and clinical features of sickle-cell anemia in Brazil. (8892730)
1996
41
Preimplantation diagnosis of alpha-thalassemia by blastomere aspiration and polymerase chain reaction: preliminary experience. (8857251)
1996
42
Placental pathology casebook. Alpha-thalassemia: differential diagnosis. (7965231)
1994
43
Beta-globin gene cluster haplotype and alpha-thalassemia do not correlate with the acute clinical manifestations of sickle cell disease in children. (8400306)
1993
44
Alpha-Thalassemia X-Linked Intellectual Disability Syndrome (20301622)
1993
45
Alpha-thalassemia/mental retardation syndrome often confused with other disorders. (1456302)
1992
46
Molecular characterization of severe alpha-thalassemias causing hydrops fetalis in Taiwan. (1867284)
1991
47
Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the alpha globin complex. (2339705)
1990
48
Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. I. Cases due to deletions involving chromosome band 16p13.3. (2339704)
1990
49
Molecular basis for alpha-thalassemia associated with the structural mutant hemoglobin Suan-Dok (alpha 2 109leu----arg) (2265255)
1990
50
Hemoglobin Petah Tikva (alpha 110 Ala replaced by Asp): a new unstable variant with alpha-thalassemia-like expression. (7470621)
1981

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, 29KEGG, 37NCBI BioSystems Database
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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
310.1HBA2, HBB, HBA1
410.1HBA2, HBB, HBA1
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:00572010.2ATRX, DNMT3L
2haptoglobin-hemoglobin complexGO:03183810.0HP, HBB, HBA2
3hemoglobin complexGO:0058339.8HBZ, HBA2, HBG1, HBQ1, HBB
4endocytic vesicle lumenGO:0716829.8HBB, HP, 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, HBZ, HBA2, HBG1, HBQ1
6iron ion bindingGO:0055069.8HBB, HBQ1, HBG1, HBA2, HBZ
7protein bindingGO:0055158.8HELLS, DAXX, HP, HBB, HBA2, DNMT3L

Products for genes affiliated with Alpha Thalassemia

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  • Antibodies
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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