MCID: HMG003
MIFTS: 45

Hemoglobin E Disease malady

Genetic diseases, Rare diseases, Blood diseases categories
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Summaries for Hemoglobin E Disease

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43NIH Rare Diseases, 33MalaCards
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NIH Rare Diseases:43 Hemoglobin e (hbe) disease is an inherited blood disorder characterized by an abnormal form of hemoglobin, called hemoglobin e. people with this condition have red blood cells that are smaller than normal and have an irregular shape. hbe disease is thought to be a benign condition. it is inherited in an autosomal recessive pattern and is caused by a particular mutation in the hbb gene. the mutation that causes hemoglobin e disease has the highest frequency among people of southeast asian heritage (cambodian, laotian, vietnamese and thai). however, it is also found in people of chinese, filipino, asiatic indian, and turkish descent. last updated: 2/21/2014

MalaCards: Hemoglobin E Disease, also known as hb-e disease, is related to thalassemia and beta thalassemia. An important gene associated with Hemoglobin E Disease is HBB (hemoglobin, beta), and among its related pathways are Selenium Pathway and Collagen biosynthesis and modifying enzymes. The compounds hind iii and inogatran have been mentioned in the context of this disorder. Affiliated tissues include colon and liver, and related mouse phenotypes are embryogenesis and integument.

Aliases & Classifications for Hemoglobin E Disease

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Sources:
8Disease Ontology, 43NIH Rare Diseases, 20GeneTests, 22GTR, 10DISEASES, 49Orphanet, 62UMLS, 58SNOMED-CT, 40NCIt, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
hemoglobin e disease:
Inheritance: Autosomal recessive; Age of onset: Variable; Age of death: Any age


Aliases & Descriptions:

hemoglobin e disease 8 43 20 22 10 49 62
hb-e disease 8


External Ids:

Disease Ontology8 DOID:5379
NCIt40 C35287
ICD10 via Orphanet26 D58.2
SNOMED-CT58 25065001
SNOMED-CT via Orphanet59 25065001
UMLS via Orphanet63 C0238159

Related Diseases for Hemoglobin E Disease

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Hemoglobin E Disease family:

Hemoglobin C Disease Hemoglobin D Disease
Hemoglobin Sd Hemoglobin Ss
Hemoglobin So

Diseases related to Hemoglobin E Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 48)
idRelated DiseaseScoreTop Affiliating Genes
1thalassemia10.8
2beta thalassemia10.7
3sickle cell - hemoglobin e disease10.4
4optic atrophy10.1
5homocysteinemia10.1F5
6factor xii deficiency10.1F5
7purpura fulminans10.1F5
8central retinal vein occlusion10.1F5
9thrombotic thrombocytopenic purpura10.1
10choroiditis10.1
11cerebritis10.1
12purpura10.1
13tuberculosis10.1
14hemophilia b10.1F2
15prothrombin deficiency10.0F2, F5
16factor x deficiency10.0F5, F2
17factor v deficiency10.0F2, F5
18blood protein disease10.0F5, F2
19portal vein thrombosis10.0F2, F5
20antithrombin iii deficiency10.0F2, F5
21factor xi deficiency10.0F2, F5
22protein s deficiency10.0F2, F5
23dysfibrinogenemia10.0F2, F5
24hemorrhagic disease10.0F2, F5
25placental abruption10.0F2, F5
26von willebrand's disease10.0F2, F5
27factor vii deficiency10.0F2, F5
28scott syndrome10.0F2, F5
29factor viii deficiency10.0F2, F5
30afibrinogenemia10.0F2, F5
31protein c deficiency10.0F2, F5
32pulmonary embolism10.0F5, F2
33pregnancy loss10.0F2, F5
34antiphospholipid syndrome10.0F2, F5
35thrombophilia10.0F5, F2
36thromboembolism10.0F2, F5
37disseminated intravascular coagulation10.0F2, F5
38venous thrombosis10.0F5, F2
39hyperhomocysteinemia10.0F5, F2
40stroke, ischemic10.0F5, F2
41lupus erythematosus10.0F5, F2
42galactosemia10.0F2, F5
43thrombocytopenia10.0F5, F2
44hypertension10.0F2, F5
45sepsis10.0F5, F2
46factor v leiden thrombophilia10.0F5, F2
47pre-eclampsia10.0F2, HBB, F5
48deficiency anemia9.9HBB, F2

Graphical network of the top 20 diseases related to Hemoglobin E Disease:



Diseases related to hemoglobin e disease

Symptoms for Hemoglobin E Disease

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Drugs & Therapeutics for Hemoglobin E Disease

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Hemoglobin E Disease

Search NIH Clinical Center for Hemoglobin E Disease

Genetic Tests for Hemoglobin E Disease

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Sources:
20GeneTests, 22GTR
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Genetic tests related to Hemoglobin E Disease:

id Genetic test Affiliating Genes
1 Hemoglobin E20 22 HBB

Anatomical Context for Hemoglobin E Disease

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Sources:
33MalaCards
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MalaCards organs/tissues related to Hemoglobin E Disease:

33
Colon, Liver

Animal Models for Hemoglobin E Disease or affiliated genes

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Sources:
37MGI
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MGI Mouse Phenotypes related to Hemoglobin E Disease:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.5F5, HBB, F2
2MP:00107718.2F5, HBB, F2

Publications for Hemoglobin E Disease

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Sources:
52PubMed
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Articles related to Hemoglobin E Disease:

(show all 33)
idTitleAuthorsYear
1
Massive hemothorax due to intrathoracic extramedullary hematopoiesis in a patient with beta thalassemia hemoglobin E disease. (24319860)
2013
2
Detection of beta-thalassemia/hemoglobin E disease in samples which initially were diagnosed as homozygous hemoglobin E. (23865372)
2013
3
Thrombotic thrombocytopenic purpura in a patient with hemoglobin E disease-the importance of timely examination of a blood film. (22473629)
2012
4
Outcomes of pregnancies complicated by beta-thalassemia/hemoglobin E disease. (19084837)
2009
5
Hemoglobin E disease with concomitant tuberculosis. (19008605)
2008
6
Hemoglobin E disease in North Indian population: a report of 11 cases. (17654063)
2007
7
Severe beta(0) thalassemia/hemoglobin E disease caused by de novo 22-base pair duplication in the paternal allele of beta globin gene. (17160997)
2007
8
Hemostatic alterations in splenectomized and non-splenectomized patients with beta-thalassemia/hemoglobin E disease. (17382994)
2007
9
Allogeneic peripheral blood stem cell transplantation in children with homozygous beta-thalassemia and severe beta-thalassemia/hemoglobin E disease. (15087953)
2004
10
Hemin: a possible cause of oxidative stress in blood circulation of beta-thalassemia/hemoglobin E disease. (12653201)
2003
11
Sickle cell-hemoglobin E disease in an Indian family. (12035368)
2001
12
Clinical manifestation of beta-thalassemia/hemoglobin E disease. (11132229)
2000
13
Hydroxyurea increases hemoglobin F levels and improves the effectiveness of erythropoiesis in beta-thalassemia/hemoglobin E disease. (8562958)
1996
14
Role of alternatively spliced beta E-globin mRNA on clinical severity of beta-thalassemia/hemoglobin E disease. (8629114)
1995
15
Liver tissue injury secondary to iron overload in beta-thalassemia/hemoglobin E disease. (1298983)
1992
16
Increase in spontaneous platelet aggregation in beta-thalassemia/hemoglobin E disease: a consequence of splenectomy. (1298991)
1992
17
Identification of five rare mutations including a novel frameshift mutation causing beta zero-thalassemia in Thai patients with beta zero-thalassemia/hemoglobin E disease. (1515453)
1992
18
Sickle cell-hemoglobin E disease: clinical findings and implications. (1960615)
1991
19
Cardiac involvement in beta-thalassemia/hemoglobin E disease: clinical and hemodynamic findings. (2237594)
1990
20
Cerebral thrombosis in beta-thalassemia/hemoglobin E disease. (2339462)
1990
21
Oropharyngeal colonization with aerobic bacteria in beta-thalassemia/hemoglobin E disease. (3318952)
1987
22
Prenatal diagnosis of the fetus at risk for beta-thalassemia/hemoglobin E disease: a report of the first case in Thailand. (3572289)
1987
23
Hemoglobin E disease in pregnancy. (6151925)
1984
24
Zinc and copper status in hemoglobin H disease and beta-thalassemia/hemoglobin E disease. (6817576)
1982
25
Intracranial extramedullary hematopoiesis in beta-thalassemia/hemoglobin E disease. (7258183)
1981
26
Extramedullary hematopoiesis of cranial dura mater and choroid plexus and terminal convulsions in a patient with thalassemia-hemoglobin E disease. (512525)
1979
27
Hemoglobin-E, disease with mitral stenosis (a case report). (1032837)
1976
28
Maternal and fetal outcome associated with hemoglobin E trait and hemoglobin E disease. (1079930)
1975
29
Thalassemia-hemoglobin E disease in a Tamil christian subject. Report of a case. (4718417)
1973
30
Thalassemia hemoglobin E disease. (5506679)
1970
31
Pathology of abnormal hemoglobin diseases seen in Thailand. I. Pathology of beta-thalassemia hemoglobin E disease. (4225872)
1967
32
A further example of thalassemia-hemoglobin E disease in Turkey. (4956512)
1965
33
The hemoglobin E syndromes. II. Sickle-cell-hemoglobin E disease. (13792277)
1960

Variations for Hemoglobin E Disease

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Expression for genes affiliated with Hemoglobin E Disease

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hemoglobin E Disease

Search GEO for disease gene expression data for Hemoglobin E Disease.

Pathways for genes affiliated with Hemoglobin E Disease

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Sources:
50PathCards, 38NCBI BioSystems Database, 55Reactome, 53QIAGEN, 30KEGG, 54R&D Systems
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Pathways related to Hemoglobin E Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
thioredoxin pathway38
9.3HBB, F2
2
Show member pathways
9.0F5, F2
3
Show member pathways
Complement Activation, Classical Pathway38
Complement and Coagulation Cascades38
9.0F2, F5
4
Show member pathways
9.0F5, F2
5
Show member pathways
8.5F5, HBB, F2

Compounds for genes affiliated with Hemoglobin E Disease

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Sources:
45Novoseek, 11DrugBank, 51PharmGKB, 3BitterDB, 61Tocris Bioscience, 29IUPHAR, 24HMDB
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Compounds related to Hemoglobin E Disease according to GeneCards/GeneDecks:

(show top 50)    (show all 55)
idCompoundScoreTop Affiliating Genes
1hind iii459.5F5, HBB
2inogatran459.5F5, F2
3ecarin459.5F2, F5
4hirugen459.5F2, F5
5spectrozyme459.5F5, F2
6danaparoid459.5F2, F5
7monoethylglycinexylidide459.5F2, F5
8batroxobin459.5F2, F5
9kaolin459.5F2, F5
10ximelagatran45 1110.5F2, F5
11ancrod459.5F2, F5
12heparinoids459.5F5, F2
13fondaparinux459.5F2, F5
14bivalirudin45 1110.4F5, F2
15acenocoumarol45 51 1111.4F5, F2
16hydroxyurea45 51 1111.4HBB, F2
17coumarins459.4F2, F5
18desogestrel45 1110.4F2, F5
19argatroban45 1110.4F2, F5
20protamine sulfate459.4F5, F2
21gestodene45 1110.4F2, F5
22ofloxacin45 3 1111.4F5, F2
23penicillin459.4F2, F5
24antipyrine45 1110.4F5, F2
25ristocetin459.4F2, F5
26gamma-carboxyglutamic acid459.4F5, F2
27cyproteroneacetate459.4F5, F2
28levonorgestrel45 61 29 1112.4F2, F5
29desmopressin45 61 29 1112.4F2, F5
30coumarin45 3 51 2412.4F2, F5
31cardiolipin45 1110.3F5, F2
32hirudin459.3F2, F5
33phosphatidylethanolamine45 1110.3F5, F2
34dermatan sulfate459.3F5, F2
35warfarin45 51 24 1112.3F2, F5
36kininogen459.3F5, F2
37acetaminophen45 3 51 24 1113.3F5, F2
38pge1459.3F2, F5
39aprotinin45 1110.2F5, F2
40polyethylene glycol459.2F2, F5
41homocysteine45 2410.0F2, F5
42phosphatidylserine45 29 1111.0F5, F2
43protamine459.0F5, HBB, F2
44citrate458.9F5, F2
45tamoxifen45 51 29 1111.9F5, HBB, F2
46lactate458.9F5, HBB, F2
47aspartate458.8F5, HBB, F2
48simvastatin45 51 61 29 24 1113.7F5, F2
49alanine458.7F5, HBB, F2
50estrogen458.6F5, HBB, F2

GO Terms for genes affiliated with Hemoglobin E Disease

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Sources:
16Gene Ontology
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Cellular components related to Hemoglobin E Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1blood microparticleGO:0725629.0HBB, F2
2extracellular regionGO:0055768.5F5, HBB, F2

Biological processes related to Hemoglobin E Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1platelet activationGO:0301689.0F5, F2
2blood coagulationGO:0075968.2F5, HBB, F2

Molecular functions related to Hemoglobin E Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1serine-type endopeptidase activityGO:0042529.0F5, F2

Products for genes affiliated with Hemoglobin E Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hemoglobin E Disease

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet