MCID: HMG003
MIFTS: 43

Hemoglobin E Disease

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

Aliases & Classifications for Hemoglobin E Disease

MalaCards integrated aliases for Hemoglobin E Disease:

Name: Hemoglobin E Disease 12 75 53 59 29 6 15 72
Hemoglobin E 29 6
Hb-E Disease 12

Characteristics:

Orphanet epidemiological data:

59
hemoglobin e disease
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: any age;

Classifications:



External Ids:

Disease Ontology 12 DOID:5379
NCIt 50 C35287
SNOMED-CT 68 25065001
ICD10 33 D58.2
ICD10 via Orphanet 34 D58.2
UMLS via Orphanet 73 C0238159
Orphanet 59 ORPHA2133
UMLS 72 C0238159

Summaries for Hemoglobin E Disease

NIH Rare Diseases : 53 Hemoglobin E (HbE) disease is a mild, inherited blood 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.

MalaCards based summary : Hemoglobin E Disease, also known as hemoglobin e, is related to placental abruption and thrombophilia. 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. The drugs Acetylcysteine and Tocopherol have been mentioned in the context of this disorder. Affiliated tissues include testes, bone and endothelial.

Wikipedia : 75 Hemoglobin E (HbE) is an abnormal hemoglobin with a single point mutation in the ? chain. At position 26... 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 168)
# Related Disease Score Top Affiliating Genes
1 placental abruption 30.0 F5 F2
2 thrombophilia 29.9 F5 F2
3 von willebrand's disease 29.8 F5 F2
4 fetal hemoglobin quantitative trait locus 1 29.7 HBD HBB
5 alpha-thalassemia 29.6 HBE1 HBB
6 sickle cell anemia 29.6 HBS1L HBB F2
7 thalassemia 29.3 HBS1L HBE1 HBD HBB
8 beta-thalassemia 29.2 HBS1L HBE1 HBD HBB
9 sickle cell disease 29.1 HBS1L HBD HBB
10 cerebrovascular disease 28.9 F5 F2
11 hemoglobin h disease 28.9 HBE1 HBD HBB
12 hemoglobinopathy 28.9 HBE1 HBD HBB
13 congenital hemolytic anemia 28.8 HBE1 HBD HBB
14 hemoglobin se disease 11.6
15 splenic disease 10.3 HBB F2
16 paracetamol poisoning 10.3 F5 F2
17 spinal cord infarction 10.3 F5 F2
18 sudden sensorineural hearing loss 10.3 F5 F2
19 cerebral sinovenous thrombosis 10.3 F5 F2
20 sagittal sinus thrombosis 10.3 F5 F2
21 prothrombin deficiency, congenital 10.3 F5 F2
22 cryptogenic cirrhosis 10.3 F5 F2
23 ischemic colitis 10.3 F5 F2
24 porencephaly 10.2 F5 F2
25 factor viii deficiency 10.2 F5 F2
26 thrombophlebitis 10.2 F5 F2
27 retinal vascular occlusion 10.2 F5 F2
28 peripheral vertigo 10.2 F5 F2
29 post-thrombotic syndrome 10.2 F5 F2
30 antithrombin iii deficiency 10.2 F5 F2
31 central retinal vein occlusion 10.2 F5 F2
32 retinal vein occlusion 10.2 F5 F2
33 retinal artery occlusion 10.2 F5 F2
34 portal vein thrombosis 10.2 F5 F2
35 dysfibrinogenemia 10.2 F5 F2
36 pulmonary artery disease 10.2 F5 F2
37 arteritic anterior ischemic optic neuropathy 10.2 F5 F2
38 protein s deficiency 10.2 F5 F2
39 acute liver failure 10.2 F5 F2
40 splenomegaly 10.2
41 sea-blue histiocyte disease 10.2 HBE1 HBB
42 thrombasthenia 10.2 F5 F2
43 vein disease 10.2 F5 F2
44 protein c deficiency 10.2 F5 F2
45 intracranial hypertension 10.2 F5 F2
46 blood coagulation disease 10.2 F5 F2
47 spherocytosis, type 2 10.2 HBE1 HBB
48 thrombophilia due to activated protein c resistance 10.2 F5 F2
49 afibrinogenemia 10.1 F5 F2
50 nonarteritic anterior ischemic optic neuropathy 10.1 F5 F2

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

Drugs for Hemoglobin E Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 32)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational 616-91-1 12035
2
Tocopherol Approved, Investigational 1406-66-2, 54-28-4 14986
3
Deferiprone Approved 30652-11-0 2972
4
Iron Approved, Experimental 15438-31-0, 7439-89-6 23925 27284
5
Artesunate Approved, Investigational 88495-63-0 5464098 6917864
6
Mefloquine Approved, Investigational 53230-10-7 4046
7
Vitamin E Approved, Nutraceutical, Vet_approved 59-02-9 14985
8 Tocotrienol Investigational 6829-55-6
9
Piperaquine Experimental, Investigational 4085-31-8 5079497
10 Micronutrients
11 Trace Elements
12 Antidotes
13 Chelating Agents
14 Antioxidants
15 Respiratory System Agents
16 Free Radical Scavengers
17 Vitamins
18 Anti-Infective Agents
19 Tocotrienols
20 Iron Chelating Agents
21 Tocopherols
22 N-monoacetylcystine
23 Nutrients
24 Protective Agents
25 Expectorants
26 Antiviral Agents
27 Antiparasitic Agents
28 Anthelmintics
29 Artemisinine
30 Antimalarials
31 Artemisinins
32 Antiprotozoal Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Multi-National, Blinded, Placebo-Controlled, Dose Escalation Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of HQK-1001 in Subjects With Beta Thalassemia Intermedia, Including Hemoglobin E Beta Thalassemia Completed NCT00790127 Phase 1, Phase 2 HQK-1001;Placebo
2 An Open Label Academic Phase 2 Study of SDMB in Subjects in Thailand With Beta Thalassemia Intermedia Completed NCT01609595 Phase 2 sodium 2,2 dimethylbutyrate
3 Compassionate Use of Catheter Thrombectomy (Aspirex 11F) in Patients With Massive Pulmonary Embolism Terminated NCT00314002 Phase 1, Phase 2
4 Effect of Antioxidant Cocktail in Beta-thalassemia/Hb E Patients Completed NCT01597765 curcuminoids, N-acetylcysteine, deferiprone and vitamin E;Curcuminoids and alpha-tocopherol
5 Plasmodium Falciparum Clearance Rates in Response to Artesunate in Eastern Cambodia Completed NCT01240603
6 Studies of P. Vivax and P. Falciparum Malaria in Cambodia Completed NCT00663546
7 Multidisciplinary Studies of Severe Malaria and Antimalarial Drug Resistance in Cambodia Completed NCT00341003

Search 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 29
2 Hemoglobin E Disease 29

Anatomical Context for Hemoglobin E Disease

MalaCards organs/tissues related to Hemoglobin E Disease:

41
Testes, Bone, Endothelial, Bone Marrow, Colon, Heart, Spinal Cord

Publications for Hemoglobin E Disease

Articles related to Hemoglobin E Disease:

(show top 50) (show all 557)
# Title Authors PMID Year
1
Extended linkage disequilibrium surrounding the hemoglobin E variant due to malarial selection. 38 71
15114532 2004
2
The global distribution of length polymorphisms of the promoters of the glucuronosyltransferase 1 gene (UGT1A1): hematologic and evolutionary implications. 38 71
12850492 2003
3
Hemoglobin E: a balanced polymorphism protective against high parasitemias and thus severe P falciparum malaria. 38 71
12149194 2002
4
Interaction of hemoglobin E and pyrimidine 5' nucleotidase deficiency. 38 71
8839873 1996
5
Sickle cell-hemoglobin E disease: clinical findings and implications. 38 71
1960615 1991
6
Homozygous hemoglobin E mimics beta-thalassemia minor without anemia or hemolysis: hematologic, functional, and biosynthetic studies of first North American cases. 38 71
7395858 1980
7
Interaction of malaria with a common form of severe thalassemia in an Asian population. 71
19841268 2009
8
Global epidemiology of haemoglobin disorders and derived service indicators. 71
18568278 2008
9
Hyperbilirubinemia in homozygous HbE disease is associated with the UGT1A1 gene polymorphism. 71
16114182 2005
10
Genotypes and phenotypes--another lesson from the hemoglobinopathies. 71
15470211 2004
11
The 'hot-spot' of Hb E [beta26(B8)Glu-->Lys] in Southeast Asia: beta-globin anomalies in the Lao Theung population of southern Laos. 71
15481886 2004
12
Homozygosity for Hb E-Saskatoon [beta22(B4)Glu-->Lys] in a Turkish patient. 71
11791874 2001
13
Genetic determinants of jaundice and gallstones in haemoglobin E beta thalassaemia. 71
11425418 2001
14
Racial variability in the UDP-glucuronosyltransferase 1 (UGT1A1) promoter: a balanced polymorphism for regulation of bilirubin metabolism? 71
9653159 1998
15
The first case of Hb E-Saskatoon [alpha 2 beta(2)22(B4)Glu-->Lys] in a Japanese male in Asia. 71
8718699 1995
16
Compound heterozygosity for Hb E-Saskatoon or alpha 2 beta 2(22)(B4)Glu----Lys and beta-thalassemia type IVS-I-6 (T----C) 71
2283299 1990
17
Direct detection of haemoglobin E with MnlI. 71
3031297 1987
18
Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster. 71
6280057 1982
19
Nonrandom association of polymorphic restriction sites in the beta-globin gene cluster. 71
6275383 1982
20
A genetically determined disorder with features both of thalassaemia and congenital dyserythropoietic anaemia. 71
4351905 1973
21
Hemoglobin variant common to Chinese and North American Indians: alpha-2-beta-22 Glu-Ala. 71
5658717 1968
22
Hemoglobin G Saskatoon: beta-22Glu--Ala. 71
6021187 1967
23
Abnormal human haemoglobins. VI. The chemical difference between haemoglobins A and E. 71
13716853 1961
24
Interactions of unstable hemoglobin Rush with thalassemia and hemoglobin E result in thalassemia intermedia. 38
31124399 2019
25
Differentially expressed plasma proteins of β-thalassemia/hemoglobin E patients in response to curcuminoids/vitamin E antioxidant cocktails. 38
30661467 2019
26
A case of compound heterozygous hemoglobin Köln/hemoglobin E in an Indian family. 38
31424305 2019
27
Molecular prevalence of thalassemia and hemoglobinopathies among the Lao Loum Group in the Lao People's Democratic Republic. 38
31271507 2019
28
Validation of Microarray for the Simultaneous Detection of Common α- and β-Thalassemia Gene Mutations. 38
30806653 2019
29
Differentiation of homozygous hemoglobin E and hemoglobin E-β0 -thalassemia in children. 38
30582675 2019
30
Etiology of Anemia Among Women and Children in Rural Bangladesh: An Assessment of Nutritional and Non-nutritional Factors (P10-115-19). 38
31223747 2019
31
The first report of hemoglobin E in combination with the highly unstable alpha-globin variant Hb Adana: The importance of molecular confirmation. 38
30663218 2019
32
Blood transfusion therapy for β-thalassemia major and hemoglobin E β-thalassemia: Adequacy, trends, and determinants in Sri Lanka. 38
30697927 2019
33
A Formula to Identify Potential Cases of β-Thalassemia/HbE Disease Among Patients With Absent HbA, HbE >75% and HbF Between 5 and 15. 38
30239825 2019
34
Hemoglobin A1c Levels Are Slightly but Significantly Lower in Normoglycemic Subjects With the Hemoglobin E Phenotype. 38
30430785 2019
35
Comparative Proteome-Wide Analysis of Bone Marrow Microenvironment of β-Thalassemia/Hemoglobin E. 38
30813444 2019
36
Vascular and hemostatic alterations associated with pulmonary hypertension in β-thalassemia hemoglobin E patients receiving regular transfusion and iron chelation. 38
30584959 2019
37
The prevalence, alloimmunization risk factors, antigenic exposure, and evaluation of antigen-matched red blood cells for thalassemia transfusions: a 10-year experience at a tertiary care hospital. 38
30443908 2019
38
Molecular Analysis of Non-Transfusion Dependent Thalassemia Associated with Hemoglobin E-β-Thalassemia Disease without α-Thalassemia. 38
31308914 2019
39
A nationwide survey of hospital-based thalassemia patients and standards of care and a preliminary assessment of the national prevention program in Sri Lanka. 38
31419232 2019
40
Hemoglobin E protects against acute Plasmodium vivax infections in a Kachin population at the China-Myanmar border. 38
29964138 2018
41
Moyamoya syndrome in hemoglobin E-beta thalassemia: A rare presentation and association. 38
29943740 2018
42
Deferiprone increases endothelial nitric oxide synthase phosphorylation and nitric oxide production. 38
29806986 2018
43
EE score: an index for simple differentiation of homozygous hemoglobin E and hemoglobin E-β0-thalassemia. 38
29668441 2018
44
Labile iron pool as a parameter to monitor iron overload and oxidative stress status in β-thalassemic erythrocytes. 38
29486524 2018
45
Can Exchange Transfusions Using Red Blood Cells from Donors with Hemoglobin E Trait Prevent or Ameliorate Severe Malaria in Patients with Multi-drug Resistant Plasmodium falciparum? 38
30127587 2018
46
Clinico-hematological Profile of Hb E-β Thalassemia-Prospective Analysis in a tertiary Care Centre. 38
31331134 2018
47
The shortcut strategy for beta thalassemia prevention. 38
30046413 2018
48
The Effect of ABO Blood Groups, Hemoglobinopathy, and Heme Oxygenase-1 Polymorphisms on Malaria Susceptibility and Severity. 38
29742871 2018
49
Hemolysis area: A new parameter of erythrocyte osmotic fragility for screening of thalassemia trait. 38
29692590 2018
50
Engineered U7 snRNA mediates sustained splicing correction in erythroid cells from β-thalassemia/HbE patients. 38
29550480 2018

Variations for Hemoglobin E Disease

ClinVar genetic disease variations for Hemoglobin E Disease:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 HBB NM_000518.5(HBB): c.79G> A (p.Glu27Lys) single nucleotide variant Pathogenic rs33950507 11:5248173-5248173 11:5226943-5226943
2 HBB NM_000518.4(HBB): c.67G> A (p.Glu23Lys) single nucleotide variant Uncertain significance rs33959855 11:5248185-5248185 11:5226955-5226955

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 HBE1 HBD HBB F5 F2
2 11.33 HBE1 HBD HBB

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 9.46 HBE1 HBD HBB F2
2 hemoglobin complex GO:0005833 9.13 HBE1 HBD HBB
3 haptoglobin-hemoglobin complex GO:0031838 8.8 HBE1 HBD HBB

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

# Name GO ID Score Top Affiliating Genes
1 cellular oxidant detoxification GO:0098869 9.5 HBE1 HBD HBB
2 hemostasis GO:0007599 9.37 F5 F2
3 hydrogen peroxide catabolic process GO:0042744 9.33 HBE1 HBD HBB
4 protein heterooligomerization GO:0051291 9.26 HBE1 HBB
5 oxygen transport GO:0015671 9.13 HBE1 HBD HBB
6 blood coagulation GO:0007596 9.02 HBE1 HBD HBB F5 F2

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

# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 9.58 HBE1 HBD HBB
2 oxygen binding GO:0019825 9.54 HBE1 HBD HBB
3 peroxidase activity GO:0004601 9.5 HBE1 HBD HBB
4 oxygen carrier activity GO:0005344 9.43 HBE1 HBD HBB
5 organic acid binding GO:0043177 9.33 HBE1 HBD HBB
6 haptoglobin binding GO:0031720 9.13 HBE1 HBD HBB
7 hemoglobin alpha binding GO:0031721 8.8 HBE1 HBD HBB

Sources for Hemoglobin E Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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