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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NIH Rare Diseases:42 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 based summary: 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, 42NIH Rare Diseases, 20GeneTests, 22GTR, 10DISEASES, 48Orphanet, 39NCIt, 57SNOMED-CT, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Hemoglobin E Disease, Aliases & Descriptions:

Name: Hemoglobin E Disease 8 42 20 22 10 48
 
Hb-E Disease 8


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
hemoglobin e disease:
Inheritance: Autosomal recessive; Age of onset: Variable; Age of death: Any age


External Ids:

Disease Ontology8 DOID:5379
NCIt39 C35287
SNOMED-CT57 25065001
ICD10 via Orphanet26 D58.2
UMLS via Orphanet63 C0238159

Related Diseases for Hemoglobin E Disease

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Diseases in the Hemoglobin E Disease family:

Hemoglobin C Disease Hemoglobin D Disease
Hemoglobin Sd Hemoglobin So

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

(show all 47)
idRelated DiseaseScoreTop Affiliating Genes
1thalassemia10.8
2beta thalassemia10.7
3sickle cell - hemoglobin e disease10.4
4homocysteinemia10.4F5
5factor xii deficiency10.4F5
6central retinal vein occlusion10.4F5
7hemophilia b10.2F2
8optic atrophy10.1
9thrombotic thrombocytopenic purpura10.1
10choroiditis10.1
11cerebritis10.1
12purpura10.1
13tuberculosis10.1
14prothrombin deficiency10.1F2, F5
15factor x deficiency10.1F2, F5
16factor v deficiency10.1F2, F5
17blood protein disease10.1F2, F5
18portal vein thrombosis10.1F5, F2
19antithrombin iii deficiency10.1F2, F5
20factor xi deficiency10.1F5, F2
21dysfibrinogenemia10.1F5, F2
22protein s deficiency10.0F5, F2
23hemorrhagic disease10.0F2, F5
24von willebrand's disease10.0F5, F2
25factor vii deficiency10.0F2, F5
26placental abruption10.0F5, F2
27scott syndrome10.0F2, F5
28afibrinogenemia10.0F5, F2
29factor viii deficiency10.0F2, F5
30protein c deficiency10.0F5, F2
31pulmonary embolism10.0F5, F2
32pregnancy loss10.0F2, F5
33antiphospholipid syndrome10.0F2, F5
34thrombophilia10.0F2, F5
35thromboembolism10.0F2, F5
36disseminated intravascular coagulation10.0F5, F2
37venous thrombosis10.0F2, F5
38hyperhomocysteinemia10.0F5, F2
39stroke, ischemic10.0F5, F2
40lupus erythematosus9.9F5, F2
41galactosemia9.9F2, F5
42thrombocytopenia9.9F2, F5
43hypertension9.9F2, F5
44sepsis9.9F5, F2
45factor v leiden thrombophilia9.8F5, F2
46pre-eclampsia9.8HBB, F5, F2
47deficiency anemia9.8F2, HBB

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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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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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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MalaCards organs/tissues related to Hemoglobin E Disease:

32
Colon, Liver

Animal Models for Hemoglobin E Disease or affiliated genes

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MGI Mouse Phenotypes related to Hemoglobin E Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.5F5, HBB, F2
2MP:00107718.2F5, HBB, F2

Publications for Hemoglobin E Disease

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Articles related to Hemoglobin E Disease:

(show all 32)
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
Cerebral thrombosis in beta-thalassemia/hemoglobin E disease. (2339462)
1990
20
Oropharyngeal colonization with aerobic bacteria in beta-thalassemia/hemoglobin E disease. (3318952)
1987
21
Prenatal diagnosis of the fetus at risk for beta-thalassemia/hemoglobin E disease: a report of the first case in Thailand. (3572289)
1987
22
Hemoglobin E disease in pregnancy. (6151925)
1984
23
Zinc and copper status in hemoglobin H disease and beta-thalassemia/hemoglobin E disease. (6817576)
1982
24
Intracranial extramedullary hematopoiesis in beta-thalassemia/hemoglobin E disease. (7258183)
1981
25
Extramedullary hematopoiesis of cranial dura mater and choroid plexus and terminal convulsions in a patient with thalassemia-hemoglobin E disease. (512525)
1979
26
Hemoglobin-E, disease with mitral stenosis (a case report). (1032837)
1976
27
Maternal and fetal outcome associated with hemoglobin E trait and hemoglobin E disease. (1079930)
1975
28
Thalassemia-hemoglobin E disease in a Tamil christian subject. Report of a case. (4718417)
1973
29
Thalassemia hemoglobin E disease. (5506679)
1970
30
Pathology of abnormal hemoglobin diseases seen in Thailand. I. Pathology of beta-thalassemia hemoglobin E disease. (4225872)
1967
31
A further example of thalassemia-hemoglobin E disease in Turkey. (4956512)
1965
32
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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Expression patterns in normal tissues for genes affiliated with Hemoglobin E Disease

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Pathways for genes affiliated with Hemoglobin E Disease

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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 pathway37
9.3HBB, F2
2
Show member pathways
9.0F5, F2
3
Show member pathways
Complement Activation, Classical Pathway37
Complement and Coagulation Cascades37
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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Compounds related to Hemoglobin E Disease according to GeneCards/GeneDecks:

(show top 50)    (show all 55)
idCompoundScoreTop Affiliating Genes
1hind iii449.5F5, HBB
2inogatran449.5F5, F2
3ecarin449.5F2, F5
4hirugen449.5F2, F5
5spectrozyme449.5F5, F2
6danaparoid449.5F2, F5
7monoethylglycinexylidide449.5F2, F5
8batroxobin449.5F2, F5
9kaolin449.5F2, F5
10ximelagatran44 1110.5F2, F5
11ancrod449.5F2, F5
12heparinoids449.5F5, F2
13fondaparinux449.5F2, F5
14bivalirudin44 1110.4F5, F2
15acenocoumarol44 50 1111.4F5, F2
16hydroxyurea44 50 1111.4HBB, F2
17coumarins449.4F2, F5
18desogestrel44 1110.4F2, F5
19argatroban44 1110.4F2, F5
20protamine sulfate449.4F5, F2
21gestodene44 1110.4F2, F5
22ofloxacin44 2 1111.4F5, F2
23penicillin449.4F2, F5
24antipyrine44 1110.4F5, F2
25ristocetin449.4F2, F5
26gamma-carboxyglutamic acid449.4F5, F2
27cyproteroneacetate449.4F5, F2
28levonorgestrel44 61 28 1112.4F2, F5
29desmopressin44 61 28 1112.4F2, F5
30coumarin44 2 50 2412.4F2, F5
31cardiolipin44 1110.3F5, F2
32hirudin449.3F2, F5
33phosphatidylethanolamine44 1110.3F5, F2
34dermatan sulfate449.3F5, F2
35warfarin44 50 24 1112.3F2, F5
36kininogen449.3F5, F2
37acetaminophen44 2 50 24 1113.3F5, F2
38pge1449.3F2, F5
39aprotinin44 1110.2F5, F2
40polyethylene glycol449.2F2, F5
41homocysteine44 2410.0F2, F5
42phosphatidylserine44 28 1111.0F5, F2
43protamine449.0F5, HBB, F2
44citrate448.9F5, F2
45tamoxifen44 50 28 1111.9F5, HBB, F2
46lactate448.9F5, HBB, F2
47aspartate448.8F5, HBB, F2
48simvastatin44 50 61 28 24 1113.7F5, F2
49alanine448.7F5, HBB, F2
50estrogen448.6F5, HBB, F2

GO Terms for genes affiliated with Hemoglobin E Disease

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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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Sources for Hemoglobin E Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet