MCID: HMG003
MIFTS: 45

Hemoglobin E Disease malady

Genetic diseases, Rare diseases, Blood diseases categories

Summaries for Hemoglobin E Disease

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44NIH Rare Diseases, 34MalaCards
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NIH Rare Diseases:44 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:
9Disease Ontology, 44NIH Rare Diseases, 21GeneTests, 23GTR, 11DISEASES, 50Orphanet, 63UMLS, 59SNOMED-CT, 41NCIt, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

50
hemoglobin e disease:
Inheritance: Autosomal recessive; Age of onset: Variable; Age of death: Any age


Aliases & Descriptions:

hemoglobin e disease 9 44 21 23 11 50 63
hb-e disease 9


External Ids:

Disease Ontology9 DOID:5379
NCIt41 C35287
ICD10 via Orphanet27 D58.2
SNOMED-CT59 25065001
SNOMED-CT via Orphanet60 25065001
UMLS via Orphanet64 C0238159

Related Diseases for Hemoglobin E Disease

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Sources:
18GeneCards, 19GeneDecks
See all sources

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:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Hemoglobin E Disease

Drug clinical trials:

Search ClinicalTrials for Hemoglobin E Disease

Search NIH Clinical Center for Hemoglobin E Disease

Search CenterWatch for Hemoglobin E Disease

Genetic Tests for Hemoglobin E Disease

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Sources:
21GeneTests, 23GTR
See all sources

Genetic tests related to Hemoglobin E Disease:

id Genetic test Affiliating Genes
1 Hemoglobin E21 23 HBB

Anatomical Context for Hemoglobin E Disease

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Sources:
34MalaCards
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MalaCards organs/tissues related to Hemoglobin E Disease:

34
Colon, Liver

Animal Models for Hemoglobin E Disease or affiliated genes

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Sources:
38MGI
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MGI Mouse Phenotypes related to Hemoglobin E Disease:

38
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:
53PubMed
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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, 16Gene 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:
51PathCards, 39NCBI BioSystems Database, 56Reactome, 54QIAGEN, 31KEGG, 55R&D Systems
See all sources

Pathways related to Hemoglobin E Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
thioredoxin pathway39
9.3HBB, F2
2
Show member pathways
9.0F5, F2
3
Show member pathways
Complement Activation, Classical Pathway39
Complement and Coagulation Cascades39
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:
46Novoseek, 12DrugBank, 52PharmGKB, 3BitterDB, 62Tocris Bioscience, 30IUPHAR, 25HMDB
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Compounds related to Hemoglobin E Disease according to GeneCards/GeneDecks:

(show top 50)    (show all 55)
idCompoundScoreTop Affiliating Genes
1hind iii469.5F5, HBB
2inogatran469.5F5, F2
3ecarin469.5F2, F5
4hirugen469.5F2, F5
5spectrozyme469.5F5, F2
6danaparoid469.5F2, F5
7monoethylglycinexylidide469.5F2, F5
8batroxobin469.5F2, F5
9kaolin469.5F2, F5
10ximelagatran46 1210.5F2, F5
11ancrod469.5F2, F5
12heparinoids469.5F5, F2
13fondaparinux469.5F2, F5
14bivalirudin46 1210.4F5, F2
15acenocoumarol46 52 1211.4F5, F2
16hydroxyurea46 52 1211.4HBB, F2
17coumarins469.4F2, F5
18desogestrel46 1210.4F2, F5
19argatroban46 1210.4F2, F5
20protamine sulfate469.4F5, F2
21gestodene46 1210.4F2, F5
22ofloxacin46 3 1211.4F5, F2
23penicillin469.4F2, F5
24antipyrine46 1210.4F5, F2
25ristocetin469.4F2, F5
26gamma-carboxyglutamic acid469.4F5, F2
27cyproteroneacetate469.4F5, F2
28levonorgestrel46 62 30 1212.4F2, F5
29desmopressin46 62 30 1212.4F2, F5
30coumarin46 3 52 2512.4F2, F5
31cardiolipin46 1210.3F5, F2
32hirudin469.3F2, F5
33phosphatidylethanolamine46 1210.3F5, F2
34dermatan sulfate469.3F5, F2
35warfarin46 52 25 1212.3F2, F5
36kininogen469.3F5, F2
37acetaminophen46 3 52 25 1213.3F5, F2
38pge1469.3F2, F5
39aprotinin46 1210.2F5, F2
40polyethylene glycol469.2F2, F5
41homocysteine46 2510.0F2, F5
42phosphatidylserine46 30 1211.0F5, F2
43protamine469.0F5, HBB, F2
44citrate468.9F5, F2
45tamoxifen46 52 30 1211.9F5, HBB, F2
46lactate468.9F5, HBB, F2
47aspartate468.8F5, HBB, F2
48simvastatin46 52 62 30 25 1213.7F5, F2
49alanine468.7F5, HBB, F2
50estrogen468.6F5, HBB, F2

GO Terms for genes affiliated with Hemoglobin E Disease

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Sources:
17Gene 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
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