MCID: HMG003
MIFTS: 34

Hemoglobin E Disease

Categories: Rare diseases, Genetic diseases, Endocrine diseases, Blood diseases

Aliases & Classifications for Hemoglobin E Disease

MalaCards integrated aliases for Hemoglobin E Disease:

Name: Hemoglobin E Disease 12 72 49 55 28 14 69
Hb-E Disease 12
Hemoglobin E 28

Characteristics:

Orphanet epidemiological data:

55
hemoglobin e disease
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: any age;

Classifications:



External Ids:

Disease Ontology 12 DOID:5379
ICD10 32 D58.2
NCIt 46 C35287
SNOMED-CT 64 25065001
Orphanet 55 ORPHA2133
UMLS via Orphanet 70 C0238159
ICD10 via Orphanet 33 D58.2
UMLS 69 C0238159

Summaries for Hemoglobin E Disease

NIH Rare Diseases : 49 Hemoglobin E (HbE) disease is a mild, inheritedblood disorder characterized by an abnormal form of hemoglobin, called hemoglobin E. People with this condition may have very mild anemia, but the condition typically does not cause any symptoms. It is inherited in an autosomal recessive manner and is caused by a mutation in the HBB gene. The mutation that causes hemoglobin E disease primarily occurs in Southeast Asian populations, and rarely in Chinese populations. Most people with HbE disease do not need any treatment.  Last updated: 3/22/2017

MalaCards based summary : Hemoglobin E Disease, also known as hb-e disease, is related to thrombosis and thalassemia. An important gene associated with Hemoglobin E Disease is HBB (Hemoglobin Subunit Beta), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Factors involved in megakaryocyte development and platelet production. Affiliated tissues include liver and colon.

Wikipedia : 72 Hemoglobin E or haemoglobin E (HbE) is an abnormal hemoglobin with a single point mutation in the β... more...

Related Diseases for Hemoglobin E Disease

Diseases in the Hemoglobin H Disease family:

Hemoglobin C Disease Hemoglobin D Disease
Hemoglobin E Disease Hemoglobin Se Disease

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

(show top 50) (show all 90)
# Related Disease Score Top Affiliating Genes
1 thrombosis 29.5 F2 F5
2 thalassemia 29.4 HBB HBD HBE1 HBS1L
3 beta-thalassemia 29.3 HBB HBD HBE1 HBS1L
4 hemoglobin h disease 28.9 HBB HBD HBE1
5 hemoglobin e-beta-thalassemia syndrome 12.2
6 hemoglobin se disease 11.3
7 splenic infarction 10.3 F2 HBB
8 splenic disease 10.3 F2 HBB
9 paracetamol poisoning 10.2 F2 F5
10 spinal cord infarction 10.2 F2 F5
11 livedoid vasculopathy 10.2 F2 F5
12 sudden sensorineural hearing loss 10.2 F2 F5
13 cerebral sinovenous thrombosis 10.2 F2 F5
14 prothrombin deficiency, congenital 10.2 F2 F5
15 sagittal sinus thrombosis 10.2 F2 F5
16 ischemic colitis 10.2 F2 F5
17 cryptogenic cirrhosis 10.2 F2 F5
18 factor viii deficiency 10.2 F2 F5
19 sneddon syndrome 10.2 F2 F5
20 porencephaly 10.2 F2 F5
21 retinal artery occlusion 10.2 F2 F5
22 retinal vascular occlusion 10.2 F2 F5
23 factor v deficiency 10.2 F2 F5
24 prothrombin deficiency 10.2 F2 F5
25 thrombophlebitis 10.2 F2 F5
26 antithrombin iii deficiency 10.2 F2 F5
27 post-thrombotic syndrome 10.2 F2 F5
28 peripheral vertigo 10.2 F2 F5
29 central retinal vein occlusion 10.2 F2 F5
30 scott syndrome 10.2 F2 F5
31 portal vein thrombosis 10.2 F2 F5
32 arteritic anterior ischemic optic neuropathy 10.2 F2 F5
33 dysfibrinogenemia 10.2 F2 F5
34 protein s deficiency 10.2 F2 F5
35 acute liver failure 10.2 F2 F5
36 vein disease 10.2 F2 F5
37 severe hemophilia a 10.2 F2 F5
38 placental abruption 10.2 F2 F5
39 thrombasthenia 10.2 F2 F5
40 ischemic optic neuropathy 10.2 F2 F5
41 protein c deficiency 10.2 F2 F5
42 intracranial hypertension 10.1 F2 F5
43 factor x deficiency 10.1 F2 F5
44 spherocytosis, type 2 10.1 HBB HBE1
45 retinal vein occlusion 10.1 F2 F5
46 blood coagulation disease 10.1 F2 F5
47 thrombophilia due to activated protein c resistance 10.1 F2 F5
48 nonarteritic anterior ischemic optic neuropathy 10.1 F2 F5
49 von willebrand's disease 10.1 F2 F5
50 immune system disease 10.1 F2 HBB

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



Diseases related to Hemoglobin E Disease

Symptoms & Phenotypes for Hemoglobin E Disease

Drugs & Therapeutics for Hemoglobin E Disease

Search Clinical Trials , NIH Clinical Center for Hemoglobin E Disease

Genetic Tests for Hemoglobin E Disease

Genetic tests related to Hemoglobin E Disease:

# Genetic test Affiliating Genes
1 Hemoglobin E 28
2 Hemoglobin E Disease 28

Anatomical Context for Hemoglobin E Disease

MalaCards organs/tissues related to Hemoglobin E Disease:

38
Liver, Colon

Publications for Hemoglobin E Disease

Articles related to Hemoglobin E Disease:

(show all 35)
# Title Authors Year
1
Pregnancy Outcomes Among Women with Homozygous Hemoglobin E Disease: A Retrospective Cohort Study. ( 27456306 )
2016
2
Hemoglobin E disease and glycosylated hemoglobin. ( 26425484 )
2015
3
Massive hemothorax due to intrathoracic extramedullary hematopoiesis in a patient with beta thalassemia hemoglobin E disease. ( 24319860 )
2013
4
Detection of beta-thalassemia/hemoglobin E disease in samples which initially were diagnosed as homozygous hemoglobin E. ( 23865372 )
2013
5
Thrombotic thrombocytopenic purpura in a patient with hemoglobin E disease-the importance of timely examination of a blood film. ( 22473629 )
2012
6
Outcomes of pregnancies complicated by beta-thalassemia/hemoglobin E disease. ( 19084837 )
2009
7
Hemoglobin E disease with concomitant tuberculosis. ( 19008605 )
2008
8
Hemoglobin E disease in North Indian population: a report of 11 cases. ( 17654063 )
2007
9
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
10
Hemostatic alterations in splenectomized and non-splenectomized patients with beta-thalassemia/hemoglobin E disease. ( 17382994 )
2007
11
Allogeneic peripheral blood stem cell transplantation in children with homozygous beta-thalassemia and severe beta-thalassemia/hemoglobin E disease. ( 15087953 )
2004
12
Hemin: a possible cause of oxidative stress in blood circulation of beta-thalassemia/hemoglobin E disease. ( 12653201 )
2003
13
Sickle cell-hemoglobin E disease in an Indian family. ( 12035368 )
2001
14
Clinical manifestation of beta-thalassemia/hemoglobin E disease. ( 11132229 )
2000
15
Hydroxyurea increases hemoglobin F levels and improves the effectiveness of erythropoiesis in beta-thalassemia/hemoglobin E disease. ( 8562958 )
1996
16
Role of alternatively spliced beta E-globin mRNA on clinical severity of beta-thalassemia/hemoglobin E disease. ( 8629114 )
1995
17
Liver tissue injury secondary to iron overload in beta-thalassemia/hemoglobin E disease. ( 1298983 )
1992
18
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
19
Increase in spontaneous platelet aggregation in beta-thalassemia/hemoglobin E disease: a consequence of splenectomy. ( 1298991 )
1992
20
Sickle cell-hemoglobin E disease: clinical findings and implications. ( 1960615 )
1991
21
Cardiac involvement in beta-thalassemia/hemoglobin E disease: clinical and hemodynamic findings. ( 2237594 )
1990
22
Cerebral thrombosis in beta-thalassemia/hemoglobin E disease. ( 2339462 )
1990
23
Oropharyngeal colonization with aerobic bacteria in beta-thalassemia/hemoglobin E disease. ( 3318952 )
1987
24
Prenatal diagnosis of the fetus at risk for beta-thalassemia/hemoglobin E disease: a report of the first case in Thailand. ( 3572289 )
1987
25
Hemoglobin E disease in pregnancy. ( 6151925 )
1984
26
Zinc and copper status in hemoglobin H disease and beta-thalassemia/hemoglobin E disease. ( 6817576 )
1982
27
Intracranial extramedullary hematopoiesis in beta-thalassemia/hemoglobin E disease. ( 7258183 )
1981
28
Extramedullary hematopoiesis of cranial dura mater and choroid plexus and terminal convulsions in a patient with thalassemia-hemoglobin E disease. ( 512525 )
1979
29
Hemoglobin-E, disease with mitral stenosis (a case report). ( 1032837 )
1976
30
Maternal and fetal outcome associated with hemoglobin E trait and hemoglobin E disease. ( 1079930 )
1975
31
Thalassemia-hemoglobin E disease in a Tamil christian subject. Report of a case. ( 4718417 )
1973
32
Thalassemia hemoglobin E disease. ( 5506679 )
1970
33
Pathology of abnormal hemoglobin diseases seen in Thailand. I. Pathology of beta-thalassemia hemoglobin E disease. ( 4225872 )
1967
34
A further example of thalassemia-hemoglobin E disease in Turkey. ( 4956512 )
1965
35
The hemoglobin E syndromes. II. Sickle-cell-hemoglobin E disease. ( 13792277 )
1960

Variations for Hemoglobin E Disease

ClinVar genetic disease variations for Hemoglobin E Disease:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HBB NM_000518.4(HBB): c.79G> A (p.Glu27Lys) single nucleotide variant Pathogenic,protective rs33950507 GRCh37 Chromosome 11, 5248173: 5248173

Expression for Hemoglobin E Disease

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

Pathways for Hemoglobin E Disease

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.1 F2 F5 HBB HBD HBE1
2 11.33 HBB HBD HBE1

GO Terms for Hemoglobin E Disease

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

# Name GO ID Score Top Affiliating Genes
1 blood microparticle GO:0072562 9.26 F2 HBB HBD HBE1
2 hemoglobin complex GO:0005833 8.8 HBB HBD HBE1

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

# Name GO ID Score Top Affiliating Genes
1 protein heterooligomerization GO:0051291 9.26 HBB HBE1
2 hemostasis GO:0007599 9.16 F2 F5
3 oxygen transport GO:0015671 9.13 HBB HBD HBE1
4 blood coagulation GO:0007596 9.02 F2 F5 HBB HBD HBE1

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

# Name GO ID Score Top Affiliating Genes
1 iron ion binding GO:0005506 9.43 HBB HBD HBE1
2 heme binding GO:0020037 9.33 HBB HBD HBE1
3 oxygen binding GO:0019825 9.13 HBB HBD HBE1
4 oxygen carrier activity GO:0005344 8.8 HBB HBD HBE1

Sources for Hemoglobin E Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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