Thalassemias, Alpha- malady

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

Summaries for Thalassemias, Alpha-

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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 based summary: Thalassemias, Alpha-, also known as alpha-thalassemia, is related to sickle cell anemia and hydrops fetalis, 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:10 Alpha thalassemia is a thalassemia involving the genes hba1and hba2 hemoglobin genes.

Genetics Home Reference:23 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:65 Alpha-thalassemia (?-thalassemia, ?-thalassaemia) is a form of thalassemia involving the genes HBA1 and... more...

Description from OMIM:47 604131

GeneReviews summary for a-thal

Aliases & Classifications for Thalassemias, Alpha-

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47OMIM, 10Disease Ontology, 11diseasecard, 21GeneReviews, 43NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 45Novoseek, 49Orphanet, 24GTR, 57SNOMED-CT, 40NCIt, 35MeSH, 62UMLS, 36MESH via Orphanet, 28ICD10 via Orphanet, 63UMLS via Orphanet, 27ICD10
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Thalassemias, Alpha-, Aliases & Descriptions:

Name: Thalassemias, Alpha- 47
Alpha-Thalassemia 47 10 21 43 23 45 49
Alpha Thalassemia 10 43 22 23 12 24
Thalassemia, Alpha- 47 11
Hemoglobin H Disease 10
Alpha Thalassaemia 10
α-Thalassemia 23
a-Thalassemia 43


Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Immune diseases, Blood diseases

Characteristics (Orphanet epidemiological data):

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

External Ids:

OMIM47 604131
Disease Ontology10 DOID:1099
NCIt40 C34368
MeSH35 D017085
Orphanet49 846
MESH via Orphanet36 D017085
ICD10 via Orphanet28 D56.0
UMLS via Orphanet63 C0002312, C1456873
ICD1027 D56, D56.0, D56.9

Related Diseases for Thalassemias, Alpha-

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

(show top 50)    (show all 86)
idRelated DiseaseScoreTop Affiliating Genes
1sickle cell anemia30.9HBB, HBA2, HBA1
2hydrops fetalis30.8HBA2, HBB
3thalassemia30.8HBA1, HBA2, HBB
4malaria30.8HBB, HBA2
5sickle cell disease30.6HBA2, HBB
6hemoglobin h disease, nondeletional30.6HBA2, HBA1
7hemoglobinopathy30.5HBB, HBA2
8hereditary spherocytosis30.1HBA2, HBB
9hemolytic anemia30.1HBB, HBA2
10thalassemia, hispanic gamma-delta-beta29.9HBA2, HBB
11alpha-thalassemia x-linked intellectual disability syndrome10.8
12mental retardation10.8
13alpha-thalassemia/mental retardation syndrome10.7
14myelodysplastic syndrome10.4
16alpha-thalassemia myelodysplasia syndrome, somatic10.3
17hb bart's hydrops fetalis10.3
18alpha-thalassemia - myelodysplastic syndrome10.3
19alpha-thalassemia - intellectual disability syndrome linked to chromosome 1610.3
21alpha-thalassemia-abnormal morphogenesis10.3
22hemoglobin constant spring10.3
23hemoglobin quong sze10.3
24mental retardation-hypotonic facies syndrome, x-linked10.2
26cerebrovascular disease10.2
27sickle cell - beta-thalassemia disease10.2
30hemoglobin e disease10.1
31adenosine deaminase deficiency10.1
32sideroblastic anemia10.1
35refractory anemia10.1
36splenic sequestration10.1
37arteriovenous malformation10.1
38gonadal dysgenesis10.1
39pulmonary arteriovenous malformation10.1
40pyruvate kinase deficiency10.0
42pulmonary hypertension10.0
43hematopoietic stem cell transplantation10.0
44hereditary spastic paraplegia10.0
46severe combined immunodeficiency10.0
47pulmonary tuberculosis10.0
49fanconi syndrome10.0
50autoimmune hemolytic anemia10.0

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:



 49 (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-Thalassemia22 HBZ
2 Alpha Thalassemia24

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-:

7 (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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45Novoseek, 13DrugBank, 51PharmGKB, 30IUPHAR, 26HMDB
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Compounds related to Thalassemias, Alpha- according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
123-diphosphoglycerate459.3HBA2, HBB
2hmba459.3HBB, HBA2
3iron dextran45 1310.3HBB, HBA1
4hydroxyurea45 51 1311.2HBB, HBA2
5methionine459.1HBB, HBA2
6valine459.0HBA2, HBB
7butyrate458.8HBB, HBA2
8heme30 26 1310.7HBB, HBZ, HBA1
9oligonucleotide458.7HBA2, HBZ, HBB
10iron45 269.7HBB, HBA2, HBA1
11oxygen45 269.5HBB, HBA2, HBA1

GO Terms for genes affiliated with Thalassemias, Alpha-

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Cellular components related to Thalassemias, Alpha- according to GeneCards/GeneDecks:

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/GeneDecks:

(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/GeneDecks:

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

Products for genes affiliated with Thalassemias, Alpha-

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Thalassemias, Alpha-

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28ICD10 via Orphanet
36MESH via Orphanet
48OMIM via Orphanet
58SNOMED-CT via Orphanet
63UMLS via Orphanet