MCID: ALP006
MIFTS: 58

Alpha Thalassemia malady

Genetic diseases, Rare diseases, Immune diseases, Blood diseases, Nephrological diseases, Neuronal diseases, Mental diseases categories

Summaries for Alpha Thalassemia

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Sources:
9Disease Ontology, 22Genetics Home Reference, 44NIH Rare Diseases, 35MedlinePlus, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 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 alpha-thalassemia/mental retardation 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). Affiliated tissues include bone, heart and testes.

Disease Ontology:9 Alpha thalassemia is a thalassemia involving the genes hba1and hba2 hemoglobin genes.

Genetics Home Reference:22 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:35 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:66 Alpha-thalassemia (?-thalassemia, ?-thalassaemia) is a form of thalassemia involving the genes HBA1 and... more...

Description from OMIM:48 301040,141800,613978,141750,604131

GeneReviews summary for a-thal

Aliases & Classifications for Alpha Thalassemia

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Sources:
9Disease Ontology, 44NIH Rare Diseases, 22Genetics Home Reference, 11DISEASES, 23GTR, 63UMLS, 20GeneReviews, 46Novoseek, 50Orphanet, 35MedlinePlus, 10diseasecard, 21GeneTests, 48OMIM, 41NCIt, 59SNOMED-CT, 36MeSH, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet, 26ICD10
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Classifications:



Characteristics (Orphanet epidemiological data):

50
alpha-thalassemia:
Inheritance: Autosomal recessive; Prevalence: 1-5/10000; Age of onset: Variable; Age of death: Normal


Aliases & Descriptions:

alpha thalassemia 9 44 22 11
alpha-thalassemia 9 20 44 22 46 50 63
thalassemia, alpha- 10 21 23 48
hemoglobin h disease 9 23 63
thalassemia 11 46 35
alpha-thalassemia/mental retardation syndrome, nondeletion type, x-linked 63
alpha thalassaemia 9
α-thalassemia 22
a-thalassemia 44


External Ids:

Disease Ontology9 DOID:1099
NCIt41 C34368
MeSH36 D017085
MESH via Orphanet37 D017085
ICD10 via Orphanet27 D56.0
SNOMED-CT via Orphanet60 36467003, 68913001
UMLS via Orphanet64 C0002312, C1456873
ICD1026 D56.0

Related Diseases for Alpha Thalassemia

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18GeneCards, 19GeneDecks
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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 253)
idRelated DiseaseScoreTop Affiliating Genes
1thalassemia11.3
2alpha-thalassemia/mental retardation syndrome10.7
3mental retardation10.7
4alpha-thalassemia x-linked intellectual disability syndrome10.7
5beta thalassemia10.6
6sickle cell anemia10.6
7hemoglobin e - beta-thalassemia10.6
8hepatitis10.6
9deficiency anemia10.6
10iron deficiency anemia10.6
11hydrops fetalis10.5
12malaria10.5
13hepatitis c10.4
14osteoporosis10.4
15thalassemia, hispanic gamma-delta-beta10.4
16sickle cell disease10.4
17myelodysplastic syndromes10.4
18hemoglobin h disease, nondeletional10.4
19hb bart's hydrops fetalis10.4
20alpha-thalassemia - intellectual disability syndrome linked to chromosome 1610.4
21siderosis10.4
22hemoglobin sickle-beta thalassemia10.4
23delta-beta thalassemia10.4
24hemosiderosis10.3
25thyroiditis10.3
26hemoglobin c - beta-thalassemia10.3
27hypoparathyroidism10.3
28cerebritis10.3
29hemoglobinopathy10.3
30alpha-thalassemia-abnormal morphogenesis10.3
31hemoglobin constant spring10.3
32alpha-thalassemia myelodysplasia syndrome, somatic10.3
33diabetes mellitus10.3
34hemoglobin quong sze10.3
35microcytic anemia10.2
36hepatitis c virus10.2
37hypogonadism10.2
38hemoglobin s beta-thalassemia10.2
39endotheliitis10.2
40hypospadias10.2
41hypochromic anemia10.2
42hypertension10.2
43mental retardation-hypotonic facies syndrome, x-linked10.2
44thalassemias, alpha-10.2
45alpha-thalassemia/mental retardation syndrome, type 110.2
46sickle cell - beta-thalassemia disease10.2
47congenital dyserythropoietic anemia10.2
48hemoglobin c disease10.2
49angioid streaks10.2
50arthritis10.2

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



Diseases related to alpha thalassemia

Symptoms for Alpha Thalassemia

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48OMIM, 50Orphanet
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Clinical features from OMIM:

301040,141800,613978,141750,604131

Symptoms:

50 (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:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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21GeneTests, 23GTR
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Genetic tests related to Alpha Thalassemia:

id Genetic test Affiliating Genes
1 Alpha-Thalassemia21 HBZ
2 Alpha Thalassemia23
3 Hemoglobin H Disease23

Anatomical Context for Alpha Thalassemia

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34MalaCards
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MalaCards organs/tissues related to Alpha Thalassemia:

34
Bone, Heart, Testes, Spleen, Liver, Skin, Lung, Bone marrow, Skeletal muscle, Myeloid, Kidney

Animal Models for Alpha Thalassemia or affiliated genes

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Publications for Alpha Thalassemia

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53PubMed
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Articles related to Alpha Thalassemia:

(show top 50)    (show all 373)
idTitleAuthorsYear
1
Alpha thalassemia gene mutations in neonates from Mazandaran, Iran, 2012. (24074530)
2013
2
Detection of common deletional alpha-thalassemia spectrum by molecular technique in kelantan, northeastern malaysia. (22888447)
2012
3
Was alpha-thalassemia searched as a cause of non-immune "hydrops fetalis?". (21428207)
2010
4
alpha-Thalassemia-like globin gene expression by primitive erythrocytes derived from human embryonic stem cells. (20353349)
2010
5
X-linked alpha-thalassemia/mental retardation syndrome]. (19489441)
2009
6
Frequency of background and radiation-induced apoptosis in leukocytes of individuals with alpha-thalassemia variants, assessed by the neutral comet assay. (19657840)
2009
7
Diagnostic value of zinc protoporphyrin in a screening strategy for alpha-thalassemia. (19187279)
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
Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the alpha globin complex. (2339705)
1990
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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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Alpha Thalassemia:

1 (show all 25)
id Gene Name Type Significance SNP ID Assembly Location
1HBBNM_000518.4(HBB): c.59A> G (p.Asn20Ser)single nucleotide variantPathogenic, otherrs33972047GRCh37Chr 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 pathogenic, 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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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Alpha Thalassemia

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Pathways for genes affiliated with Alpha Thalassemia

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Compounds for genes affiliated with Alpha Thalassemia

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GO Terms for genes affiliated with Alpha Thalassemia

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Products for genes affiliated with Alpha Thalassemia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Alpha Thalassemia

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet