MCID: HMG021
MIFTS: 34

Hemoglobin E - Beta-Thalassemia malady

Blood category

Summaries for Hemoglobin E - Beta-Thalassemia

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33MalaCards
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MalaCards: Hemoglobin E - Beta-Thalassemia, also known as hemoglobin e/beta thalassemia disease, is related to thalassemia and beta thalassemia, and has symptoms including immunodeficiency/increased susceptibility to infections/recurrent infections, anaemia and hemoglobinosis/hemoglobinopathy. An important gene associated with Hemoglobin E - Beta-Thalassemia is HBB (hemoglobin, beta), and among its related pathways are Factors involved in megakaryocyte development and platelet production and Platelet activation, signaling and aggregation. The compounds hydroxyurea and sertraline have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, spinal cord and endothelial.

Aliases & Classifications for Hemoglobin E - Beta-Thalassemia

Sources:
49Orphanet, 61UMLS, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Blood


Characteristics (Orphanet epidemiological data):

49
hemoglobin e - beta-thalassemia:
Inheritance: Autosomal recessive


Aliases & Descriptions:

hemoglobin e - beta-thalassemia 49
hemoglobin e/beta thalassemia disease 61
hbe - beta-thalassemia 49
e-beta-thalassemia 49


External Ids:

ICD10 via Orphanet26 D58.2
SNOMED-CT via Orphanet58 234392002
UMLS via Orphanet62 C0472777

Related Diseases for Hemoglobin E - Beta-Thalassemia

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Hemoglobin E - Beta-Thalassemia:



Diseases related to hemoglobin e - beta-thalassemia

Clinical Features for Hemoglobin E - Beta-Thalassemia

Sources:
49Orphanet
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Symptoms:

49 (see all 4)
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • anaemia
  • hemoglobinosis/hemoglobinopathy
  • hyperferritinemia/iron overload

Drugs & Therapeutics for Hemoglobin E - Beta-Thalassemia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Hemoglobin E - Beta-Thalassemia

Anatomical Context for Hemoglobin E - Beta-Thalassemia

Sources:
33MalaCards
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MalaCards organs/tissues related to Hemoglobin E - Beta-Thalassemia:

33
Bone marrow, Spinal cord, Endothelial

Animal Models for Hemoglobin E - Beta-Thalassemia or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Hemoglobin E - Beta-Thalassemia

Sources:
51PubMed
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Articles related to Hemoglobin E - Beta-Thalassemia:

(show all 45)
idTitleAuthorsYear
1
Pseudoxanthoma elasticum-like lesions in beta-thalassemia/hemoglobin E patient: a case report. (23414363)
2013
2
Massive hemothorax due to intrathoracic extramedullary hematopoiesis in a patient with beta thalassemia hemoglobin E disease. (24319860)
2013
3
Protection against oxidative stress in beta thalassemia/hemoglobin E erythrocytes by inhibitors of glutathione efflux transporters. (23383265)
2013
4
Cytokine-induced apoptosis of beta-thalassemia/hemoglobin E erythroid progenitor cells via nitric oxide-mediated process in vitro. (21934298)
2011
5
Interference of hemoglobin Hope on beta-thalassemia diagnosis by the capillary electrophoresis Method. (21685027)
2011
6
Extramedullary hematopoiesis and paraplegia in a patient with hemoglobin e-Beta thalassemia. (20639844)
2010
7
Erythrocytosis due to a combination of the high oxygen affinity hemoglobin variant, Hb Olympia [beta20(B2)Val-->Met] with beta- and alpha-thalassemia mutations: first case in the literature. (20642336)
2010
8
Hemoglobin Hakkari: an autosomal dominant form of beta thalassemia with inclusion bodies arising from de novo mutation in exon 2 of beta globin gene. (19852066)
2010
9
Emerging insights in the management of hemoglobin E beta thalassemia. (20712787)
2010
10
Sandwich ELISA for hemoglobin A2 quantification and identification of beta-thalassemia carriers. (20066573)
2010
11
Drug metabolizing enzyme CYP1A2 status in pediatric patients with hemoglobin E-beta thalassemia. (20043572)
2009
12
Production of beta-globin and adult hemoglobin following G418 treatment of erythroid precursor cells from homozygous beta(0)39 thalassemia patients. (19810011)
2009
13
Endothelial dysfunction and oxidant status in pediatric patients with hemoglobin E-beta thalassemia. (17891513)
2008
14
Association of SNP in exon 1 of HBS1L with hemoglobin F level in beta0-thalassemia/hemoglobin E. (18839276)
2008
15
Expression of betaE and gamma-globin genes in infants heterozygous for hemoglobin E and double heterozygous for hemoglobin E and alpha-thalassemia. (17488699)
2007
16
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
17
Role of alpha-hemoglobin-stabilizing protein in normal erythropoiesis and beta-thalassemia. (16339656)
2005
18
Evaluation of alpha hemoglobin stabilizing protein (AHSP) as a genetic modifier in patients with beta thalassemia. (14715623)
2004
19
Loss of alpha-hemoglobin-stabilizing protein impairs erythropoiesis and exacerbates beta-thalassemia. (15545996)
2004
20
Effects of beta thalassemia minor on results of six glycated hemoglobin methods. (15530468)
2004
21
Erythroid bone marrow activity and red cell hemoglobinization in iron sufficient beta-thalassemia heterozygotes as reflected by soluble transferrin receptor and reticulocyte hemoglobin in content. Correlation with genotypes and Hb A(2) levels. (12801838)
2003
22
Relationship between resistance to erythropoietin and high anomalous hemoglobin levels in hemodialysis patients with beta-thalassemia minor. (14586179)
2003
23
Serum erythropoietin levels in pediatric patients with beta-thalassemia/hemoglobin E. (12465748)
2002
24
Thalassemia intermedia and extramedullary hematopoiesis associated with compound heterozygosity for the 532 bp deletion of the beta-globin gene and gene deletion hereditary persistence of fetal hemoglobin. (11300354)
2001
25
A novel delta beta fusion gene expresses hemoglobin A (HbA) not Hb Lepore: Senegalese delta(0)beta(+) thalassemia. (11493481)
2001
26
Few reports of hemoglobin E/beta-thalassemia in Northeast India: underdiagnosis or complete exclusion of beta-thalassemia by hemoglobin E. (11132230)
2000
27
Induction of fetal hemoglobin synthesis with recombinant human erythropoietin in anemic patients with heterozygous beta-thalassemia during pregnancy. (10052837)
1999
28
Deletion of a region that is a candidate for the difference between the deletion forms of hereditary persistence of fetal hemoglobin and deltabeta-thalassemia affects beta- but not gamma-globin gene expression. (10022837)
1999
29
Hemoglobin E/beta thalassemia: the Canadian experience. (9668569)
1998
30
Difference in pattern of erythropoietin response between beta-thalassemia/hemoglobin E children and adults. (9640615)
1997
31
Fatal fat embolism syndrome in a child with undiagnosed hemoglobin S/beta+ thalassemia: a complication of acute parvovirus B19 infection. (8963632)
1996
32
Hydroxyurea increases hemoglobin F levels and improves the effectiveness of erythropoiesis in beta-thalassemia/hemoglobin E disease. (8562958)
1996
33
Efficacy and safety of oral iron chelating agent deferiprone in beta-thalassemia and hemoglobin E-beta thalassemia. (8635827)
1995
34
Combined radiotherapeutic and surgical management of a spinal cord compression by extramedullary hematopoiesis in a patient with hemoglobin E beta-thalassemia. (8091937)
1994
35
Rapid detection of deletions causing delta beta thalassemia and hereditary persistence of fetal hemoglobin by enzymatic amplification. (7510147)
1994
36
Hydroxyurea increases fetal hemoglobin in cultured erythroid cells derived from normal individuals and patients with sickle cell anemia or beta-thalassemia. (7680923)
1993
37
Beta-thalassemia intermedia with exceptionally high hemoglobin A2: relationship to mutations in the beta-gene promoter. (1380206)
1992
38
Down syndrome complicated by hemoglobin S/beta+ thalassemia. Atypical expression of coexistent disease. (2141809)
1990
39
Fetal hemoglobin synthesis in erythroid cultures in hereditary persistence of fetal hemoglobin and beta o-thalassemia. (6202341)
1984
40
Heterocellular hereditary persistence of fetal hemoglobin (HPFH). Molecular mechanisms of abnormal gamma-gene expression in association with beta thalassemia and linkage relationship with the beta-globin gene cluster. (6201431)
1984
41
Different 3' end points of deletions causing delta beta-thalassemia and hereditary persistence of fetal hemoglobin: implications for the control of gamma-globin gene expression in man. (6196781)
1983
42
Molecular comparison of delta beta-thalassemia and hereditary persistence of fetal hemoglobin DNAs: evidence of a regulatory area? (6179097)
1982
43
beta Thalassemia associated with increased HB F production. Evidence for the existence of a heterocellular hereditary persistence of fetal hemoglobin (HPFH) determinant linked to beta thalassemia in a southern Italian population. (6162827)
1981
44
Intracranial extramedullary hematopoiesis in beta-thalassemia/hemoglobin E disease. (7258183)
1981
45
Splenic sequestration and ineffective erythropoiesis in hemoglobin E-beta-thalassemia disease. (724294)
1978

Genetic Variations for Hemoglobin E - Beta-Thalassemia

Expression for genes affiliated with Hemoglobin E - Beta-Thalassemia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hemoglobin E - Beta-Thalassemia

Search GEO for disease gene expression data for Hemoglobin E - Beta-Thalassemia.

Pathways for genes affiliated with Hemoglobin E - Beta-Thalassemia

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54Reactome
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Pathways related to Hemoglobin E - Beta-Thalassemia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3HBE1, HBB
2
Hide members
8.8HBE1, HBB, PPBP

Compounds for genes affiliated with Hemoglobin E - Beta-Thalassemia

Sources:
45Novoseek, 50PharmGKB, 11DrugBank, 29IUPHAR, 24HMDB, 2BitterDB
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Compounds related to Hemoglobin E - Beta-Thalassemia according to GeneCards/GeneDecks:

(show all 13)
idCompoundScoreTop Affiliating Genes
1hydroxyurea45 50 1111.6PPBP, HBB
2sertraline45 29 50 11 2413.4CYP1A2, PPBP
3ticlopidine45 1110.4CYP1A2, PPBP
4clopidogrel50 45 11 2412.4PPBP, CYP1A2
5dmso459.3HBB, PPBP
6warfarin45 50 11 2412.3CYP1A2, PPBP
7propranolol45 29 50 11 2413.3CYP1A2, PPBP
8verapamil45 50 29 11 2413.2CYP1A2, PPBP
9epinephrine45 11 2411.1CYP1A2, PPBP
10chloramphenicol45 2 1111.0HBE1, HBB
11heme29 11 2410.8CYP1A2, HBE1, HBB
12nitric oxide45 11 2410.7CYP1A2, HBB, PPBP
13oxygen45 249.6PPBP, HBB, CYP1A2

GO Terms for genes affiliated with Hemoglobin E - Beta-Thalassemia

Sources:
16Gene Ontology
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Cellular components related to Hemoglobin E - Beta-Thalassemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1hemoglobin complexGO:0058339.3HBE1, HBB

Biological processes related to Hemoglobin E - Beta-Thalassemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1blood coagulationGO:0075968.8HBE1, HBB, PPBP

Molecular functions related to Hemoglobin E - Beta-Thalassemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1oxygen bindingGO:0198259.3HBE1, HBB
2oxygen transporter activityGO:0053449.0HBE1, HBB
3heme bindingGO:0200378.5CYP1A2, HBE1, HBB
4iron ion bindingGO:0055068.4HBB, HBE1, CYP1A2

Products for genes affiliated with Hemoglobin E - Beta-Thalassemia

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  • Lysates
  • Antibodies

Sources for Hemoglobin E - Beta-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