MCID: ALP006
MIFTS: 68

Alpha Thalassemia malady

Immune, Blood, Nephrological, Neuronal categories

Summaries for Alpha Thalassemia

Sources:
8Disease Ontology, 43NIH Rare Diseases, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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 thalassemia and beta thalassemia, and has symptoms including autosomal recessive inheritance, intellectual deficit/mental/psychomotor retardation/learning disability and splenomegaly. 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 skin, spinal cord and kidney, 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.

Wikipedia:64 Alpha-thalassemia (α-thalassemia, α-thalassaemia) is a form of thalassemia involving the genes HBA1... more...

Description from OMIM:47 141750,613978,301040,141800,604131

GeneReviews summary for a-thal

Aliases & Classifications for Alpha Thalassemia

Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 57SNOMED-CT, 40NCIt, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Immune, Blood, Nephrological, Neuronal


Characteristics (Orphanet epidemiological data):

49
alpha-thalassemia:
Inheritance: Autosomal recessive; Prevalence: 1-5/10000; Age of onset: Variable; Age of death: Normal


Aliases & Descriptions:

alpha thalassemia 8 43 21 10
alpha-thalassemia 8 19 43 21 45 49 61
thalassemia, alpha- 9 20 22 47
hemoglobin h disease 8 22 61
a-thalassemia 43 21
alpha-thalassemia/mental retardation syndrome, nondeletion type, x-linked 61
alpha-thalassemia x-linked mental retardation syndrome 19
alpha thalassemia/mental retardation, x-linked 19
xlmr-hypotonic face syndrome 19
alpha thalassaemia 8
atrx syndrome 19


External Ids:

Disease Ontology8 DOID:1099
NCIt40 C34368
MeSH35 D017085
MESH via Orphanet36 D017085
ICD10 via Orphanet26 D56.0
SNOMED-CT via Orphanet58 36467003, 68913001
UMLS via Orphanet62 C0002312, C1456873
ICD1025 D56.0

Related Diseases for Alpha Thalassemia

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 126)
idRelated DiseaseScoreTop Affiliating Genes
1thalassemia31.9HBA2, HBG1, HBB, HBA1, ATRX, UGT1A1
2beta thalassemia31.2HFE, HBA2, HBB
3alpha-thalassemia/mental retardation syndrome31.1ATRX
4mental retardation31.0DAXX, ATRX, CREBBP, WT1, HELLS
5alpha-thalassemia x-linked intellectual disability syndrome31.0ATRX, HELLS
6sickle cell anemia30.8HBB, HBA2, HBA1
7hydrops fetalis30.8HBA2, HBB
8sickle cell disease30.7HP, G6PD, HBB, HBG1, HBA2, UGT1A1
9splenomegaly30.2HP, HBA2
10hemochromatosis30.2HFE, HP, HBB
11acute leukemia30.2HBA2, WT1, CREBBP, HFE
12cholelithiasis30.0UGT1A1
13pyruvate kinase deficiency30.0G6PD
14gilbert syndrome30.0G6PD, UGT1A1
15hereditary spherocytosis30.0HFE, G6PD, UGT1A1
16plasmodium falciparum malaria30.0HP, G6PD, HBB
17deficiency anemia30.0HFE, HBB, G6PD, HBA2, HBG1, HP
18hemoglobin e disease10.5
19hemoglobin d disease10.5
20hemoglobin c disease10.4
21hemoglobin h disease, nondeletional10.4
22hemosiderosis10.4
23hemoglobin c - beta-thalassemia10.4
24alpha-thalassemia - intellectual deficit syndrome linked to chromosome 1610.4
25hemoglobin constant spring10.3
26thalassemias, alpha-10.3
27alpha-thalassemia myelodysplasia syndrome, somatic10.3
28sickle cell - hemoglobin d disease10.3
29sickle cell - beta-thalassemia disease10.3
30sickle cell - hemoglobin c disease10.3
31hemoglobin so10.3
32char syndrome10.2
33alpha-thalassemia-abnormal morphogenesis10.2
34hemoglobin s beta-thalassemia10.2
35thalassemia minor10.2
36hb bart's hydrops fetalis10.2
37hypochromic microcytic anemia10.2
38hypospadias10.2
39hypochromic anemia10.2
40t cell deficiency10.2
41chromosome 16p deletion10.2
42hemoglobin sickle-beta thalassemia10.2
43mental retardation-hypotonic facies syndrome, x-linked10.2
44delta-beta thalassemia10.2
45thalassemia, delta-10.2
46alpha-thalassemia/mental retardation syndrome, type 110.2
47hemoglobin e - beta-thalassemia10.2
48alpha chain disease10.1
49adenosine deaminase deficiency10.1
50sideroblastic anemia acquired10.1

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



Diseases related to alpha thalassemia

Clinical Features for Alpha Thalassemia

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

141750,613978,301040,141800,604131

Symptoms:

49 (show all 13)
  • autosomal recessive inheritance
  • 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
  • hemolytic anemia
  • myelodysplastic syndrome

Drugs & Therapeutics for Alpha Thalassemia

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

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

Sources:
20GeneTests, 22GTR
See all sources

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

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Alpha Thalassemia:

33
Skin, Spinal cord, Kidney, Spleen, Bone marrow, Heart, Skeletal muscle, Myeloid, T cells, B cells

Animal Models for Alpha Thalassemia or affiliated genes

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

Publications for Alpha Thalassemia

Sources:
51PubMed
See all sources

Articles related to Alpha Thalassemia:

(show top 50)    (show all 495)
idTitleAuthorsYear
1
Elevated middle cerebral artery peak systolic velocity as a prenatal manifestation of heterozygous type 2 alpha-thalassemia. (23290248)
2013
2
Comparison of hematocrit/hemoglobin ratios in subjects with alpha-thalassemia, with subjects having chronic kidney disease and normal subjects. (24050107)
2013
3
Intra-abdominal umbilical vein varix associated with fetal cardiac failure: a pitfall to the prenatal diagnosis of alpha-zero-thalassemia. (23548473)
2013
4
Detection of common deletional alpha-thalassemia spectrum by molecular technique in kelantan, northeastern malaysia. (22888447)
2012
5
Alpha-thalassemia should be considered in the differential diagnosis of a child with anemia. (21503376)
2011
6
Rapid diagnosis of alpha-thalassemia by melting curve analysis. (20190015)
2010
7
Skeletal muscle structural and energetic characteristics in subjects with sickle cell trait, alpha-thalassemia, or dual hemoglobinopathy. (20576843)
2010
8
Alpha-thalassemia genetic testing: an important anemia diagnostic tool in patients of African heritage. (21189714)
2010
9
Rapid diagnosis of the alpha-thalassemia-1 Southeast Asian type deletion using a single tube real-time SYBR-polymerase chain reaction combined with dissociation curve analysis. (19958205)
2009
10
Homozygous alpha-thalassemia with trisomy 7 mosaicism in a live-born infant. (19657992)
2009
11
Coinheritance of the different copy numbers of alpha-globin gene modifies severity of beta-thalassemia/Hb E disease. (18026953)
2008
12
Detection of alpha-thalassemia in China by using multiplex ligation-dependent probe amplification. (19065334)
2008
13
Plasma levels of adhesion molecules ICAM-1 and VCAM-1 in athletes with sickle cell trait with or without alpha-thalassemia during endurance exercise and recovery. (19029634)
2008
14
Limb defects in a fetus with homozygous alpha-thalassemia. (18932078)
2008
15
Rapid development of anemia in a HIV-positive patient with alpha-thalassemia after zidovudine therapy]. (17933262)
2007
16
Identification of alpha-thalassemia mutations in subjects from Eastern Sicily (Italy) with abnormal hematological indices and normal Hb A2. (16951927)
2006
17
Effects of yisui shengxue granules on expressions of alpha-hemoglobin stabilizing protein and erythroid transcription factor GATA-1 mRNAs in bone marrow of patients with beta-thalassemia]. (16696909)
2006
18
Alpha-thalassemia phenotype induced by the new IVS-II-2 (T --> A) splice donor site mutation on the alpha2-globin gene. (16540408)
2006
19
A Melanesian alpha-thalassemia mutation suggests a novel mechanism for regulating gene expression. (17076879)
2006
20
Usefulness of brilliant cresyl blue staining as an auxiliary method of screening for alpha-thalassemia. (15746652)
2005
21
Prenatal diagnosis of alpha-thalassemia in a twin pregnancy. (15685653)
2005
22
Two cases of compound heterozygosity for Hb Hekinan [alpha27(B8)Glu-->Asp (alpha1)] and alpha-thalassemia in Thailand. (15182057)
2004
23
Rare thalassemic syndrome caused by interaction of Hb Questembert (alpha1 codon 131, TCT>CCT, Ser>Pro) with an alpha-thalassemia-2 deletion: implications for diagnosis and management. (14757425)
2004
24
Prenatal diagnosis of alpha-thalassemia of Southeast Asian deletion with non-radioactive southern hybridization. (12656305)
2003
25
Homozygous alpha-thalassemia treated with intrauterine transfusions and postnatal hematopoietic stem cell transplantation. (12858209)
2003
26
Alpha-thalassemia does not significantly contribute to the low MCV level of Hb C trait. (12403496)
2002
27
Evaluation of clinical application of gap-PCR as a routine method for alpha-thalassemia carrier detection. (12390707)
2002
28
"Reconstituted" alpha-thalassemia genomic samples as positive controls for the molecular diagnostic laboratory. (12029018)
2002
29
Rapid differentiation of five common alpha-thalassemia genotypes by polymerase chain reaction. (11283524)
2001
30
Atypical hemoglobin H disease in a Thai patient resulting from a combination of alpha-thalassemia 1 and hemoglobin Constant Spring with hemoglobin J Bangkok heterozygosity. (11422410)
2001
31
Prenatal diagnosis of der(11)t(11;18)(q24;q21.3) due to paternal balanced translocation and both parents are carriers of alpha-thalassemia-1--a case report. (11715843)
2001
32
Hb Dartmouth [alpha66(E15)Leu-->Pro (alpha2) (CTG-->CCG)]: a novel alpha2-globin gene mutation associated with severe neonatal anemia when inherited in trans with Southeast Asian alpha-thalassemia-1. (11791870)
2001
33
alpha-thalassemia resulting from a negative chromosomal position effect. (10910890)
2000
34
Brief communication: Resistance to Falciparum malaria in alpha-thalassemia, oxidative stress, and hemoglobin oxidation. (10378464)
1999
35
Coexistence of Hb Lepore-Boston-Washington (delta 87Gln-beta-IVS-II-8) with alpha-thalassemia [alpha(-5NT)alpha/alpha alpha]. (9629502)
1998
36
Mouse zeta- and alpha-globin genes: embryonic survival, alpha-thalassemia, and genetic background effects. (9242562)
1997
37
Milder clinical course of sickle cell disease in patients with alpha thalassemia in the Indian subcontinent. (9002977)
1997
38
alpha-Thalassemia in The Netherlands: a heterogeneous spectrum of both deletions and point mutations. (9272174)
1997
39
Age dependence of the gene frequency of alpha-thalassemia in sickle cell anemia in Cuba. (8781453)
1996
40
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
41
Intrauterine therapy for homozygous alpha-thalassemia. (7724145)
1995
42
Characterization of a new alpha-thalassemia-1 mutation in a Spanish family. (7910813)
1994
43
Alpha-thalassemia-1 (--CAL mutation) in a Spanish family. (8037193)
1994
44
Association of Hb Hope [beta 136(H14)Gly----Asp] and alpha-thalassemia-2 (3.7 Kb deletion) causing severe microcytic anemia. (1428947)
1992
45
A family case of beta-thalassemia minor and hemoglobin Queens: alpha 34 (B15) Leu-Arg. (1299245)
1992
46
Hb Duan [alpha 75(EF4)Asp----Ala], Hb Westmead [alpha 122(H5)His----Gln], and alpha-thalassemia-2 (-4.2 Kb deletion) in a Chinese family. (3384694)
1988
47
Hemoglobin Evanston: alpha 14(A12) Trp leads to Arg. A variant hemoglobin associated with alpha-thalassemia-2. (6882779)
1983
48
Masking of macrocytosis by alpha-thalassemia in blacks with pernicious anemia. (6290886)
1982
49
Hemoglobin Petah Tikva (alpha 110 Ala replaced by Asp): a new unstable variant with alpha-thalassemia-like expression. (7470621)
1981
50
Hemoglobin J Rovigo (alpha53 Ala replaced by Asp) in association with beta-thalassemia. (31339)
1978

Genetic Variations for Alpha Thalassemia

Expression for genes affiliated with Alpha Thalassemia

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

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

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

Sources:
11DrugBank, 45Novoseek, 24HMDB, 50PharmGKB, 29IUPHAR, 2BitterDB, 60Tocris Bioscience
See all sources

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 dextran45 1111.5HBB, HBA1
10thiobarbituric acid4510.4HP, G6PD
11cellulose acetate4510.4HP, HBA2, G6PD
1223-diphosphoglycerate4510.4HP, HBB, HBA2, G6PD
13benzidine4510.4UGT1A1, HBG1, HBB, HP
14dimethyl sulfate4510.4HBB, HBG1
155-aminolevulinic acid45 2411.4HBB, HBG1, HFE, CREBBP
16glucose 6-phosphate45 2411.4HP, HBB, UGT1A1, G6PD
17mefloquine45 1111.3HBA1, G6PD
18ribavirin45 50 1112.3HELLS, G6PD, HP
19uric acid45 2411.3G6PD, HFE, HP
20hydroxyurea45 50 1112.3HELLS, UGT1A1, HBA2, HBG1, HBB
21butyrate4510.2WT1, CREBBP, HBA2, HBG1, HBB
22porphobilinogen45 11 2412.2HBB, HBG1
23tamoxifen45 50 29 1113.2HBB, CREBBP, UGT1A1, G6PD
24polyacrylamide4510.2HELLS, CREBBP, HBG1, HBB, HP
25methionine4510.1HELLS, CREBBP, HBA2, HBB, HP
26cytosine45 2411.1WT1, ATRX, DNMT3L
27leucine4510.1HELLS, UGT1A1, HBA2, HBG1, HBB
28iron45 2411.1HFE, HBA2, HBG1, HBB, HBA1, HP
29glutamine4510.1HELLS, WT1, G6PD, CREBBP, HBB
30heme29 11 2412.1HFE, HBZ, HBG1, HBQ1, HBB, HBA1
31azathioprine45 50 2 1113.1HBB, HBG1, G6PD
32aspartate4510.1G6PD, UGT1A1, HFE, HBB, HP
33zinc protoporphyrin4510.1HP, G6PD
34histidine4510.1HELLS, WT1, UGT1A1, CREBBP, HFE, HBB
35lysine4510.1DAXX, HBB, CREBBP, WT1, HELLS
36doxorubicin45 50 1112.0HELLS, WT1, G6PD, CREBBP, HBG1, DAXX
37oxygen45 2411.0G6PD, CREBBP, HBA2, HBG1, HBB, HBA1
38testosterone45 60 11 2413.0WT1, G6PD, UGT1A1, CREBBP, HFE, HP
39oligonucleotide459.9HELLS, WT1, HFE, HBZ, HBA2, HBB
40alanine459.9HELLS, UGT1A1, CREBBP, HFE, HBA2, HBB
41h2o2459.9HELLS, G6PD, HBB, HP, DAXX
42atp45 2910.9HELLS, G6PD, CREBBP, ATRX, HBA2, HBB
43cysteine459.8HELLS, WT1, CREBBP, HFE, HBB, HP
44zinc45 2410.8HELLS, WT1, CREBBP, ATRX, HFE, DNMT3L
45tyrosine459.7HELLS, WT1, UGT1A1, CREBBP, HFE, HBA2
46steroid459.5WT1, UGT1A1, CREBBP, HBB, HP

GO Terms for genes affiliated with Alpha Thalassemia

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Alpha 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