MCID: HMG003
MIFTS: 39

Hemoglobin E Disease malady

Genetic diseases, Rare diseases, Blood diseases categories

Aliases & Classifications for Hemoglobin E Disease

About this section
Sources:
9Disease Ontology, 41NIH Rare Diseases, 20GeneTests, 11DISEASES, 47Orphanet, 22GTR, 60UMLS, 38NCIt, 55SNOMED-CT, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Hemoglobin E Disease, Aliases & Descriptions:

Name: Hemoglobin E Disease 9 41 20 11 47 22 60
 
Hb-E Disease 9


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
hemoglobin e disease:
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: any age


External Ids:

Disease Ontology9 DOID:5379
NCIt38 C35287
Orphanet47 2133
SNOMED-CT55 25065001
ICD10 via Orphanet26 D58.2
UMLS via Orphanet61 C0238159

Summaries for Hemoglobin E Disease

About this section


NIH Rare Diseases:41 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 sickle cell - hemoglobin e disease. 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.

Related Diseases for Hemoglobin E Disease

About this section

Diseases in the Hemoglobin Sd family:

Hemoglobin C Disease hemoglobin e disease
Hemoglobin D Disease Hemoglobin So

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

(show all 47)
idRelated DiseaseScoreTop Affiliating Genes
1thalassemia10.8
2sickle cell - hemoglobin e disease10.5
3factor xiii deficiency10.4F5
4homocysteinemia10.4F5
5factor xii deficiency10.4F5
6factor viii deficiency10.4F5
7central retinal vein occlusion10.4F5
8hemophilia b10.2F2
9thrombotic thrombocytopenic purpura10.1
10choroiditis10.1
11cerebritis10.1
12purpura10.1
13tuberculosis10.1
14hypoprothrombinemia10.1F2, F5
15factor x deficiency10.1F5, F2
16factor v deficiency10.1F2, F5
17blood protein disease10.1F5, F2
18portal vein thrombosis10.1F2, F5
19thrombophilia due to antithrombin iii deficiency10.1F2, F5
20factor xi deficiency, autosomal recessive10.1F2, F5
21protein s deficiency10.0F2, F5
22dysfibrinogenemia10.0F2, F5
23hemorrhagic disease10.0F2, F5
24placental abruption10.0F2, F5
25von willebrand's disease10.0F2, F5
26factor vii deficiency10.0F2, F5
27scott syndrome10.0F2, F5
28hemophilia a10.0F2, F5
29afibrinogenemia10.0F2, F5
30protein c deficiency10.0F2, F5
31thrombophilia due to activated protein c resistance10.0F2, F5
32pulmonary embolism10.0F5, F2
33pregnancy loss, recurrent 110.0F5, F2
34antiphospholipid syndrome10.0F2, F5
35thrombophilia10.0F5, F2
36galactosemia10.0F5, F2
37disseminated intravascular coagulation10.0F2, F5
38thrombophilia due to thrombin defect10.0F5, F2
39hyperhomocysteinemia9.9F5, F2
40stroke, ischemic9.9F5, F2
41lupus erythematosus9.9F5, F2
42liver disease9.9F2, F5
43deficiency anemia9.9HBB, F2
44thrombocytopenia9.9F5, F2
45hypertension, essential9.8F2, F5
46preeclampsia/eclampsia 19.8F2, HBB, F5
47factor v leiden thrombophilia9.7F5, F2

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



Diseases related to hemoglobin e disease

Symptoms for Hemoglobin E Disease

About this section

Drugs & Therapeutics for Hemoglobin E Disease

About this section

Drug clinical trials:

Search ClinicalTrials for Hemoglobin E Disease

Search NIH Clinical Center for Hemoglobin E Disease

Genetic Tests for Hemoglobin E Disease

About this section

Genetic tests related to Hemoglobin E Disease:

id Genetic test Affiliating Genes
1 Hemoglobin E20 22 HBB

Anatomical Context for Hemoglobin E Disease

About this section

MalaCards organs/tissues related to Hemoglobin E Disease:

31
Colon, Liver

Animal Models for Hemoglobin E Disease or affiliated genes

About this section

MGI Mouse Phenotypes related to Hemoglobin E Disease:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.5F5, HBB, F2
2MP:00107718.2F5, HBB, F2

Publications for Hemoglobin E Disease

About this section

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
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
17
Sickle cell-hemoglobin E disease: clinical findings and implications. (1960615)
1991
18
Cardiac involvement in beta-thalassemia/hemoglobin E disease: clinical and hemodynamic findings. (2237594)
1990
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

About this section

Expression for genes affiliated with Hemoglobin E Disease

About this section
Search GEO for disease gene expression data for Hemoglobin E Disease.

Pathways for genes affiliated with Hemoglobin E Disease

About this section

Pathways related to Hemoglobin E Disease according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
thioredoxin pathway36
9.3HBB, F2
2
Show member pathways
9.0F5, F2
3
Show member pathways
Complement Activation, Classical Pathway36
Complement and Coagulation Cascades36
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

About this section

Compounds related to Hemoglobin E Disease according to GeneCards Suite gene sharing:

(show top 50)    (show all 55)
idCompoundScoreTop Affiliating Genes
1hind iii439.5F5, HBB
2inogatran439.5F5, F2
3ecarin439.5F2, F5
4hirugen439.5F2, F5
5spectrozyme439.5F5, F2
6danaparoid439.5F2, F5
7monoethylglycinexylidide439.5F2, F5
8batroxobin439.5F2, F5
9kaolin439.5F2, F5
10ximelagatran43 1210.5F2, F5
11ancrod439.5F2, F5
12heparinoids439.5F5, F2
13fondaparinux439.5F2, F5
14bivalirudin43 1210.4F5, F2
15acenocoumarol43 49 1211.4F5, F2
16hydroxyurea43 49 1211.4HBB, F2
17coumarins439.4F2, F5
18desogestrel43 1210.4F2, F5
19argatroban43 1210.4F2, F5
20protamine sulfate439.4F5, F2
21gestodene43 1210.4F2, F5
22ofloxacin43 2 1211.4F5, F2
23penicillin439.4F2, F5
24antipyrine43 1210.4F5, F2
25ristocetin439.4F2, F5
26gamma-carboxyglutamic acid439.4F5, F2
27cyproteroneacetate439.4F5, F2
28levonorgestrel43 59 28 1212.4F2, F5
29desmopressin43 59 28 1212.4F2, F5
30coumarin43 2 49 2412.4F2, F5
31cardiolipin43 1210.3F5, F2
32hirudin439.3F2, F5
33phosphatidylethanolamine43 1210.3F5, F2
34dermatan sulfate439.3F5, F2
35warfarin43 49 24 1212.3F2, F5
36kininogen439.3F5, F2
37acetaminophen43 2 49 24 1213.3F5, F2
38pge1439.3F2, F5
39aprotinin43 1210.2F5, F2
40polyethylene glycol439.2F2, F5
41homocysteine43 2410.0F2, F5
42phosphatidylserine43 28 1211.0F5, F2
43protamine439.0F5, HBB, F2
44citrate438.9F5, F2
45tamoxifen43 49 28 1211.9F5, HBB, F2
46lactate438.9F5, HBB, F2
47aspartate438.8F5, HBB, F2
48simvastatin43 49 59 28 24 1213.7F5, F2
49alanine438.7F5, HBB, F2
50estrogen438.6F5, HBB, F2

GO Terms for genes affiliated with Hemoglobin E Disease

About this section

Cellular components related to Hemoglobin E Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1blood microparticleGO:00725629.0HBB, F2
2extracellular regionGO:00055768.5F5, HBB, F2

Biological processes related to Hemoglobin E Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1platelet activationGO:00301689.0F5, F2
2blood coagulationGO:00075968.2F5, HBB, F2

Molecular functions related to Hemoglobin E Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1serine-type endopeptidase activityGO:00042529.0F5, F2

Products for genes affiliated with Hemoglobin E Disease

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Hemoglobin E Disease

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet