MCID: HMG003
MIFTS: 42

Hemoglobin E Disease malady

Blood diseases category

Summaries for Hemoglobin E Disease

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42NIH Rare Diseases, 32MalaCards
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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: Hemoglobin E Disease, also known as hb-e disease, is related to sickle cell disease and alpha thalassemia. An important gene associated with Hemoglobin E Disease is HBB (hemoglobin, beta), and among its related pathways are Selenium Pathway and Complement and coagulation cascades. The compounds monoethylglycinexylidide and hind iii have been mentioned in the context of this disorder. Affiliated tissues include colon and liver.

Aliases & Classifications for Hemoglobin E Disease

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 20GeneTests, 22GTR, 10DISEASES, 48Orphanet, 60UMLS, 39NCIt, 56SNOMED-CT, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

hemoglobin e disease 8 42 20 22 10 48 60
hb-e disease 8


External Ids:

Disease Ontology8 DOID:5379
NCIt39 C35287
ICD10 via Orphanet26 D58.2
SNOMED-CT56 25065001
SNOMED-CT via Orphanet57 25065001
UMLS via Orphanet61 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 D Disease Hemoglobin C Disease
Hemoglobin Sd Hemoglobin Ss
Hemoglobin So

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

(show top 50)    (show all 55)
idRelated DiseaseScoreTop Affiliating Genes
1sickle cell disease30.4HBB, HBD
2alpha thalassemia30.1HBD, HBB
3thalassemia10.8
4beta thalassemia10.7
5sickle cell - hemoglobin e disease10.2
6optic atrophy10.1
7choroiditis10.1
8cerebritis10.1
9thrombotic thrombocytopenic purpura10.1
10choroid disease10.1
11colonic disease10.1
12liver disease10.1
13purpura10.1
14tuberculosis10.1
15purpura fulminans10.0F5
16homocysteinemia10.0F5
17central retinal vein occlusion10.0F5
18factor xii deficiency10.0F5
19patent foramen ovale10.0F5
20malaria10.0HBB
21hemochromatosis10.0HBB
22polycythemia10.0HBB
23retinal vein occlusion10.0F5
24ovarian hyperstimulation syndrome10.0F5
25hellp syndrome10.0F5
26klinefelter's syndrome10.0HBB
27von willebrand's disease10.0F2
28sickle cell anemia10.0HBB, HBD
29varicose veins10.0F2
30stroke, ischemic10.0F2, F5
31prothrombin deficiency10.0F5, F2
32factor x deficiency10.0F2, F5
33thrombocytosis10.0F2
34factor v deficiency10.0F2, F5
35blood protein disease10.0F2, F5
36antithrombin iii deficiency10.0F5, F2
37factor xi deficiency10.0F5, F2
38dysfibrinogenemia10.0F5, F2
39hemorrhagic disease10.0F5, F2
40factor vii deficiency10.0F5, F2
41afibrinogenemia10.0F5, F2
42factor viii deficiency10.0F5, F2
43thromboembolism10.0F5, F2
44scott syndrome10.0F5, F2
45pregnancy loss10.0F2, F5
46portal vein thrombosis10.0F5, F2
47galactosemia10.0F5, F2
48protein c deficiency10.0F2, F5
49placental abruption10.0F2, F5
50venous thrombosis10.0F5, F2

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



Diseases related to hemoglobin e disease

Clinical Features for Hemoglobin E Disease

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Drugs & Therapeutics for Hemoglobin E Disease

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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:
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:
32MalaCards
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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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Publications for Hemoglobin E Disease

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Sources:
50PubMed
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Articles related to Hemoglobin E Disease:

(show all 39)
idTitleAuthorsYear
1
Prevalence and risk factors for pulmonary hypertension in patients with hemoglobin E/I^-thalassemia disease. (24330103)
2013
2
Massive hemothorax due to intrathoracic extramedullary hematopoiesis in a patient with beta thalassemia hemoglobin E disease. (24319860)
2013
3
Detection of beta-thalassemia/hemoglobin E disease in samples which initially were diagnosed as homozygous hemoglobin E. (23865372)
2013
4
A Rare Case of Hemoglobin E Hemoglobinopathy with Gaucher's Disease. (24426351)
2013
5
Thrombotic thrombocytopenic purpura in a patient with hemoglobin E disease-the importance of timely examination of a blood film. (22473629)
2012
6
A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E. (20183929)
2010
7
Outcomes of pregnancies complicated by beta-thalassemia/hemoglobin E disease. (19084837)
2009
8
Hemoglobin E disease with concomitant tuberculosis. (19008605)
2008
9
Hemostatic and thrombotic markers in patients with hemoglobin E/beta-thalassemia disease. (17654509)
2007
10
Hemoglobin E disease in North Indian population: a report of 11 cases. (17654063)
2007
11
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
12
Hemostatic alterations in splenectomized and non-splenectomized patients with beta-thalassemia/hemoglobin E disease. (17382994)
2007
13
Allogeneic peripheral blood stem cell transplantation in children with homozygous beta-thalassemia and severe beta-thalassemia/hemoglobin E disease. (15087953)
2004
14
Hemin: a possible cause of oxidative stress in blood circulation of beta-thalassemia/hemoglobin E disease. (12653201)
2003
15
Sickle cell-hemoglobin E disease in an Indian family. (12035368)
2001
16
Clinical manifestation of beta-thalassemia/hemoglobin E disease. (11132229)
2000
17
Hemoglobin E beta-thalassemia: an increasingly common disease with some diagnostic pitfalls. (9602183)
1998
18
Hydroxyurea increases hemoglobin F levels and improves the effectiveness of erythropoiesis in beta-thalassemia/hemoglobin E disease. (8562958)
1996
19
Role of alternatively spliced beta E-globin mRNA on clinical severity of beta-thalassemia/hemoglobin E disease. (8629114)
1995
20
Liver tissue injury secondary to iron overload in beta-thalassemia/hemoglobin E disease. (1298983)
1992
21
Increase in spontaneous platelet aggregation in beta-thalassemia/hemoglobin E disease: a consequence of splenectomy. (1298991)
1992
22
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
23
Sickle cell-hemoglobin E disease: clinical findings and implications. (1960615)
1991
24
Cardiac involvement in beta-thalassemia/hemoglobin E disease: clinical and hemodynamic findings. (2237594)
1990
25
Cerebral thrombosis in beta-thalassemia/hemoglobin E disease. (2339462)
1990
26
Oropharyngeal colonization with aerobic bacteria in beta-thalassemia/hemoglobin E disease. (3318952)
1987
27
Prenatal diagnosis of the fetus at risk for beta-thalassemia/hemoglobin E disease: a report of the first case in Thailand. (3572289)
1987
28
Hemoglobin E disease in pregnancy. (6151925)
1984
29
Zinc and copper status in hemoglobin H disease and beta-thalassemia/hemoglobin E disease. (6817576)
1982
30
Intracranial extramedullary hematopoiesis in beta-thalassemia/hemoglobin E disease. (7258183)
1981
31
Extramedullary hematopoiesis of cranial dura mater and choroid plexus and terminal convulsions in a patient with thalassemia-hemoglobin E disease. (512525)
1979
32
Splenic sequestration and ineffective erythropoiesis in hemoglobin E-beta-thalassemia disease. (724294)
1978
33
Hemoglobin-E, disease with mitral stenosis (a case report). (1032837)
1976
34
Maternal and fetal outcome associated with hemoglobin E trait and hemoglobin E disease. (1079930)
1975
35
Thalassemia-hemoglobin E disease in a Tamil christian subject. Report of a case. (4718417)
1973
36
Thalassemia hemoglobin E disease. (5506679)
1970
37
Pathology of abnormal hemoglobin diseases seen in Thailand. I. Pathology of beta-thalassemia hemoglobin E disease. (4225872)
1967
38
A further example of thalassemia-hemoglobin E disease in Turkey. (4956512)
1965
39
The hemoglobin E syndromes. II. Sickle-cell-hemoglobin E disease. (13792277)
1960

Genetic Variations for Hemoglobin E Disease

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Expression for genes affiliated with Hemoglobin E Disease

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Sources:
1BioGPS, 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:
37NCBI BioSystems Database, 29KEGG, 53Reactome, 52R&D Systems, 51QIAGEN
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Pathways related to Hemoglobin E Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5F2, HBB
2
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9.3F2, F5
3
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9.3F5, F2
4
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9.3F2, F5
5
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9.0HBB, HBD, F5

Compounds for genes affiliated with Hemoglobin E Disease

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Sources:
44Novoseek, 11DrugBank, 49PharmGKB, 2BitterDB, 59Tocris Bioscience, 28IUPHAR, 24HMDB
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Compounds related to Hemoglobin E Disease according to GeneCards/GeneDecks:

(show all 41)
idCompoundScoreTop Affiliating Genes
1monoethylglycinexylidide4410.3F5
2hind iii449.8HBB, F5
3inogatran449.8F2, F5
4ecarin449.8F5, F2
5hirugen449.8F5, F2
6spectrozyme449.8F5, F2
7danaparoid449.7F2, F5
8batroxobin449.7F2, F5
9kaolin449.7F5, F2
10ancrod449.7F5, F2
11ximelagatran44 1110.7F5, F2
12heparinoids449.7F2, F5
13fondaparinux449.7F5, F2
14Drotrecogin alfa119.7F5, F2
15acenocoumarol44 49 1111.7F5, F2
16bivalirudin44 1110.7F5, F2
17desogestrel44 1110.7F2, F5
18argatroban44 1110.7F2, F5
19protamine sulfate449.7F5, F2
20gestodene44 1110.7F2, F5
21ofloxacin44 2 1111.7F2, F5
22penicillin449.7F5, F2
23antipyrine44 1110.7F2, F5
24ristocetin449.6F5, F2
25gamma-carboxyglutamic acid449.6F2, F5
26cyproteroneacetate449.6F5, F2
27levonorgestrel44 59 28 1112.6F2, F5
28desmopressin44 59 28 1112.6F2, F5
29coumarin44 2 49 2412.6F2, F5
30cardiolipin44 1110.6F5, F2
31hirudin449.5F2, F5
32phosphatidylethanolamine44 1110.5F2, F5
33dermatan sulfate449.5F5, F2
34kininogen449.4F5, F2
35protamine449.4F2, HBB, F5
36aprotinin44 1110.3F2, F5
37acetaminophen44 2 49 11 2413.2F5, F2
38tamoxifen44 49 28 1112.2F5, HBB, F2
39lactate449.0F2, HBB, F5
40pge1449.0F2, F5
41aspartate448.9F2, HBB, F5

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
1hemoglobin complexGO:0058339.6HBB, HBD

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

idNameGO IDScoreTop Affiliating Genes
1blood coagulationGO:0075968.5F2, HBB, HBD, F5

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

idNameGO IDScoreTop Affiliating Genes
1oxygen bindingGO:0198259.6HBB, HBD
2oxygen transporter activityGO:0053449.3HBB, HBD

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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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet