Thalassemias, Alpha- malady

Genetic diseases, Rare diseases, Immune diseases, Blood diseases categories

Aliases & Classifications for Thalassemias, Alpha-

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46OMIM, 8Disease Ontology, 19GeneReviews, 42NIH Rare Diseases, 21Genetics Home Reference, 44Novoseek, 48Orphanet, 61UMLS, 9diseasecard, 20GeneTests, 10DISEASES, 22GTR, 56SNOMED-CT, 39NCIt, 33MeSH, 34MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet, 25ICD10
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Aliases & Descriptions for Thalassemias, Alpha-:

Name: Thalassemias, Alpha- 46
Alpha-Thalassemia 46 8 19 42 21 44 48 61
Alpha Thalassemia 8 42 20 21 10 22
Hemoglobin H Disease 8 61
Thalassemia, Alpha- 46 9
Alpha^+^ Thalassemia 61
Alpha Thalassaemia 8
α-Thalassemia 21
a-Thalassemia 42


Characteristics (Orphanet epidemiological data):

Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: normal life expectancy

External Ids:

OMIM46 604131
Disease Ontology8 DOID:1099
NCIt39 C34368
MeSH33 D017085
Orphanet48 846
MESH via Orphanet34 D017085
ICD10 via Orphanet26 D56.0
UMLS via Orphanet62 C0002312, C1456873
ICD1025 D56, D56.0, D56.9

Summaries for Thalassemias, Alpha-

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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: Thalassemias, Alpha-, also known as alpha-thalassemia, is related to hydrops fetalis and hemoglobin h disease, nondeletional, and has symptoms including microcytic anemia, abnormality of the heme biosynthetic pathway and biliary tract abnormality. An important gene associated with Thalassemias, Alpha- is HBA2 (hemoglobin, alpha 2), and among its related pathways are Selenium Pathway and Binding and Uptake of Ligands by Scavenger Receptors. The compounds 23-diphosphoglycerate and hmba have been mentioned in the context of this disorder. Affiliated tissues include bone, heart and skin, and related mouse phenotype mortality/aging.

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

Description from OMIM:46 604131

GeneReviews summary for a-thal

Related Diseases for Thalassemias, Alpha-

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Diseases related to Thalassemias, Alpha- via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 87)
idRelated DiseaseScoreTop Affiliating Genes
1hydrops fetalis30.9HBA2, HBB
2hemoglobin h disease, nondeletional30.8HBA2, HBA1
3sickle cell disease30.6HBA2, HBB
4sickle cell anemia30.6HBB, HBA2, HBA1
5malaria30.6HBB, HBA2
6hemoglobinopathy30.5HBB, HBA2
7thalassemia30.5HBA1, HBA2, HBB
8hereditary spherocytosis30.1HBA2, HBB
9hemolytic anemia30.0HBB, HBA2
10thalassemia, hispanic gamma-delta-beta29.9HBA2, HBB
11alpha-thalassemia x-linked intellectual disability syndrome10.8
12alpha-thalassemia/mental retardation syndrome10.8
13mental retardation10.8
14myelodysplastic syndrome10.4
15alpha-thalassemia myelodysplasia syndrome, somatic10.4
16alpha-thalassemia - myelodysplastic syndrome10.4
17alpha-thalassemia - intellectual disability syndrome linked to chromosome 1610.4
18heinz body anemia10.4HBA2
20alpha-thalassemia-abnormal morphogenesis10.3
21hb bart's hydrops fetalis10.3
23hemoglobin constant spring10.3
24hemoglobin quong sze10.3
25mental retardation-hypotonic facies syndrome, x-linked10.2
27cerebrovascular disease10.2
28sickle cell - beta-thalassemia disease10.2
31hemoglobin e disease10.1
32adenosine deaminase deficiency10.1
33sideroblastic anemia10.1
36refractory anemia10.1
37vascular cancer10.1HBA2, HBA1
38epithelioid sarcoma10.1HBA1, HBA2
39capillary hemangioma10.1HBA1, HBA2
40lymphangioma10.1HBA2, HBA1
41splenic sequestration10.1
42arteriovenous malformation10.1
43gonadal dysgenesis10.1
44pulmonary arteriovenous malformation10.1
45hemangiopericytoma10.1HBA2, HBA1
46classic kaposi sarcoma10.1HBA2, HBA1
47hemangioma10.1HBA2, HBA1
48microvascular complications of diabetes 510.0HBA1, HBA2
49huntington disease10.0
50pyruvate kinase deficiency10.0

Graphical network of the top 20 diseases related to Thalassemias, Alpha-:

Diseases related to thalassemias, alpha-

Symptoms for Thalassemias, Alpha-

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Clinical features from OMIM:



 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 Thalassemias, Alpha-:

(show all 12)
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
11 hypochromic microcytic anemia HP:0004840
12 reduced alpha/beta synthesis ratio HP:0011907

Drugs & Therapeutics for Thalassemias, Alpha-

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Drug clinical trials:

Search ClinicalTrials for Thalassemias, Alpha-

Search NIH Clinical Center for Thalassemias, Alpha-

Genetic Tests for Thalassemias, Alpha-

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Genetic tests related to Thalassemias, Alpha-:

id Genetic test Affiliating Genes
1 Alpha-Thalassemia20 HBZ
2 Alpha Thalassemia22

Anatomical Context for Thalassemias, Alpha-

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MalaCards organs/tissues related to Thalassemias, Alpha-:

Bone, Heart, Skin

Animal Models for Thalassemias, Alpha- or affiliated genes

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MGI Mouse Phenotypes related to Thalassemias, Alpha-:

idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107688.0HBB, HBZ, HBA2, HBA1

Publications for Thalassemias, Alpha-

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Articles related to Thalassemias, Alpha-:

Coexistence of Hb Lepore-Boston-Washington (delta 87Gln-beta-IVS-II-8) with alpha-thalassemia [alpha(-5NT)alpha/alpha alpha]. (9629502)

Variations for Thalassemias, Alpha-

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Clinvar genetic disease variations for Thalassemias, Alpha-:

5 (show all 25)
id Gene Variation 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 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 Thalassemias, Alpha-

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Search GEO for disease gene expression data for Thalassemias, Alpha-.

Pathways for genes affiliated with Thalassemias, Alpha-

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Compounds for genes affiliated with Thalassemias, Alpha-

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44Novoseek, 11DrugBank, 50PharmGKB, 28IUPHAR, 24HMDB
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Compounds related to Thalassemias, Alpha- according to GeneCards Suite gene sharing:

(show all 11)
idCompoundScoreTop Affiliating Genes
123-diphosphoglycerate449.3HBA2, HBB
2hmba449.3HBB, HBA2
3iron dextran44 1110.3HBB, HBA1
4hydroxyurea44 50 1111.2HBB, HBA2
5methionine449.1HBB, HBA2
6valine449.0HBA2, HBB
7butyrate448.8HBB, HBA2
8heme28 24 1110.7HBB, HBZ, HBA1
9oligonucleotide448.7HBA2, HBZ, HBB
10iron44 249.7HBB, HBA2, HBA1
11oxygen44 249.5HBB, HBA2, HBA1

GO Terms for genes affiliated with Thalassemias, Alpha-

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Cellular components related to Thalassemias, Alpha- according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1blood microparticleGO:00725629.1HBB, HBA2
2haptoglobin-hemoglobin complexGO:00318389.0HBB, HBA2
3endocytic vesicle lumenGO:00716828.8HBB, HBA2
4hemoglobin complexGO:00058338.6HBB, HBZ, HBA2

Biological processes related to Thalassemias, Alpha- according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1oxygen transportGO:00156719.3HBB, HBA2
2hydrogen peroxide catabolic processGO:00427449.2HBB, HBA2
3positive regulation of cell deathGO:00109429.2HBB, HBA2
4bicarbonate transportGO:00157019.1HBA2, HBB
5oxidation-reduction processGO:00551149.1HBB, HBA2
6response to hydrogen peroxideGO:00425429.0HBB, HBA2
7protein heterooligomerizationGO:00512918.8HBB, HBA2

Molecular functions related to Thalassemias, Alpha- according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1haptoglobin bindingGO:00317209.1HBB, HBA2
2peroxidase activityGO:00046019.1HBB, HBA2
3oxygen transporter activityGO:00053448.7HBB, HBZ, HBA2
4oxygen bindingGO:00198258.7HBB, HBZ, HBA2
5heme bindingGO:00200378.5HBA2, HBZ, HBB
6iron ion bindingGO:00055068.3HBB, HBZ, HBA2

Sources for Thalassemias, Alpha-

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26ICD10 via Orphanet
34MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet