MCID: HMG003
MIFTS: 44

Hemoglobin E Disease

Categories: Blood diseases, Endocrine diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Hemoglobin E Disease

MalaCards integrated aliases for Hemoglobin E Disease:

Name: Hemoglobin E Disease 11 19 58 75 28 5 14 71
Hemoglobin E 28 75
Hb-E Disease 11

Characteristics:


Inheritance:

Autosomal recessive 58

Age Of Onset:

All ages 58

Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 11 DOID:5379
NCIt 49 C35287
SNOMED-CT 68 25065001
ICD10 31 D58.2
ICD10 via Orphanet 32 D58.2
UMLS via Orphanet 72 C0238159
Orphanet 58 ORPHA2133
ICD11 33 1898135714
UMLS 71 C0238159

Summaries for Hemoglobin E Disease

GARD: 19 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 genetic change in the HBB gene. The genetic change that causes Hemoglobin E disease primarily occurs in Southeast Asian populations, and rarely in Chinese populations.

MalaCards based summary: Hemoglobin E Disease, also known as hemoglobin e, is related to hemoglobin se disease and glucosephosphate dehydrogenase deficiency. An important gene associated with Hemoglobin E Disease is HBB (Hemoglobin Subunit Beta), and among its related pathways/superpathways are Golgi-to-ER retrograde transport and Response to elevated platelet cytosolic Ca2+. The drug Chrysarobin has been mentioned in the context of this disorder. Affiliated tissues include bone marrow, spinal cord and endothelial, and related phenotypes are hypochromic microcytic anemia and decreased mean corpuscular volume

Orphanet: 58 Hemoglobin E disease (HbE) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin E, with a generally benign, asymptomatic presentation.

Wikipedia: 75 Hemoglobin E (HbE) is an abnormal hemoglobin with a single point mutation in the β 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 150)
# Related Disease Score Top Affiliating Genes
1 hemoglobin se disease 30.5 LOC107133510 LOC106099062 HBB
2 glucosephosphate dehydrogenase deficiency 30.2 HBG2 HBE1 HBB
3 hemoglobin e-beta-thalassemia syndrome 30.1 LOC107133510 LOC106099062 HBB
4 splenic sequestration 30.0 HBE1 HBB
5 anemia, sideroblastic, 1 29.9 TFRC KLF1 HBB
6 thalassemia minor 29.9 HBG2 HBE1 HBD HBB
7 methemoglobinemia 29.9 HBG2 HBB
8 histiocytosis-lymphadenopathy plus syndrome 29.9 SERPINA3 HBQ1 HBE1 HBB
9 plasmodium vivax malaria 29.9 TFRC SERPINA3 HBE1
10 priapism 29.7 HBB BCL11A
11 hemoglobin h disease 29.5 TFRC HBQ1 HBE1 HBB BCL11A
12 thalassemia 29.2 TFRC LOC107133510 KLF1 HBS1L HBQ1 HBG2
13 sickle cell disease 29.1 LOC107133510 LOC106099062 HBS1L HBG2 HBD HBB
14 beta-thalassemia 29.1 TFRC LOC107133510 LOC106099062 KLF1 HBS1L HBG2
15 malaria 28.7 TFRC SERPINA3 LOC107133510 LOC106099062 HBG2 HBE1
16 congenital hemolytic anemia 28.4 TFRC KLF1 HBQ1 HBG2 HBE1 HBD
17 alpha-thalassemia 28.4 TFRC LOC107133510 LOC106099062 KLF1 HBS1L HBQ1
18 hemoglobin c disease 28.1 LOC107133510 LOC106099062 KLF1 HBS1L HBQ1 HBG2
19 fetal hemoglobin quantitative trait locus 1 28.1 LOC107133510 LOC106099062 KLF1 HBS1L HBQ1 HBG2
20 sickle cell anemia 28.1 TFRC LOC107133510 LOC106099062 KLF1 HBS1L HBQ1
21 deficiency anemia 27.9 TFRC SERPINA3 LOC107133510 LOC106099062 KLF1 HBS1L
22 hemoglobinopathy 27.9 TFRC SERPINA3 LOC107133510 LOC106099062 KLF1 HBS1L
23 hemolytic anemia 27.9 TFRC LOC107133510 LOC106099062 KLF1 HBS1L HBQ1
24 beta-thalassemia major 27.9 TFRC LOC107133510 LOC106099062 KLF1 HBS1L HBQ1
25 sickle cell-hemoglobin e disease syndrome 11.2
26 iron metabolism disease 10.4
27 hemoglobin lepore-beta-thalassemia syndrome 10.2 HBD HBB
28 middle lobe syndrome 10.2 HBD HBB
29 splenomegaly 10.2
30 sickle cell disease and related diseases 10.2 LOC107133510 LOC106099062 HBB
31 methemoglobinemia, beta type 10.2 LOC107133510 LOC106099062 HBB
32 methemoglobinemia, beta-globin type 10.2 LOC107133510 LOC106099062 HBB
33 beta-thalassemia, dominant inclusion body type 10.2 LOC107133510 LOC106099062 HBB
34 erythrocytosis, familial, 6 10.2 LOC107133510 LOC106099062 HBB
35 plasmodium falciparum malaria 10.1
36 trichuriasis 10.1 SERPINA3 HBE1
37 pulmonary hypertension 10.1
38 iron deficiency anemia 10.1
39 male reproductive organ benign neoplasm 10.1 SERPINA3 APC2
40 anemia, congenital dyserythropoietic, type iv 10.1 KLF1 BCL11A
41 penile disease 10.1 HBB BCL11A
42 heinz body anemias 10.1 LOC107133510 LOC106099062 HBQ1 HBB
43 acute chest syndrome 10.1 HBB BCL11A
44 right atrial isomerism 10.0
45 microcytic anemia 10.0
46 physical disorder 10.0 SERPINA3 HBE1 HBB
47 hypochromic microcytic anemia 10.0 TFRC HBE1 HBB
48 neonatal anemia 10.0 TFRC KLF1 HBB
49 pulmonary hypertension, primary, 1 9.9
50 moyamoya disease 1 9.9

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



Diseases related to Hemoglobin E Disease

Symptoms & Phenotypes for Hemoglobin E Disease

Human phenotypes related to Hemoglobin E Disease:

58 30 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypochromic microcytic anemia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004840
2 decreased mean corpuscular volume 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0025066
3 increased red blood cell count 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0020059
4 hypochromia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0032231
5 reduced hemoglobin a 58 30 Frequent (33%) Frequent (79-30%)
HP:0011905
6 splenomegaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001744
7 intrauterine growth retardation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001511
8 premature birth 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001622
9 drug-sensitive hemolytic anemia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004817
10 increased red cell osmotic resistance 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005546
11 abnormal hemoglobin 58 Very frequent (99-80%)
12 spontaneous abortion 58 Very rare (<4-1%)
13 anemia of inadequate production 58 Very frequent (99-80%)

MGI Mouse Phenotypes related to Hemoglobin E Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.36 ARHGAP18 BCL11A CAST HBB HBD HBQ1

Drugs & Therapeutics for Hemoglobin E Disease

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Chrysarobin Phase 1, Phase 2

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

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 28
2 Hemoglobin E Disease 28

Anatomical Context for Hemoglobin E Disease

Organs/tissues related to Hemoglobin E Disease:

MalaCards : Bone Marrow, Spinal Cord, Endothelial, Bone, Heart, Whole Blood, Neutrophil

Publications for Hemoglobin E Disease

Articles related to Hemoglobin E Disease:

(show top 50) (show all 662)
# Title Authors PMID Year
1
A transgenic mouse model expressing exclusively human hemoglobin E: indications of a mild oxidative stress. 62 5
22260787 2012
2
Clinical, Hematological and Molecular Analysis of Homozygous Hb E (HBB: c.79G > A) in the Indian Population. 5
26554862 2016
3
Molecular characterization of a β-thalassemia intermedia patient presenting inferior vena cava thrombosis: interaction of the β-globin erythroid Krüppel-like factor binding site mutation with Hb E and α(+)-thalassemia. 5
25370867 2014
4
Molecular analysis of globin gene expression in different thalassaemia disorders: individual variation of β(E) pre-mRNA splicing determine disease severity. 5
21732929 2011
5
Beta-Thalassemia 5
20301599 2000
6
Performance analysis of machine learning algorithms and screening formulae for β-thalassemia trait screening of Indian antenatal women. 62
36174416 2022
7
Non-Transfusion-Dependent Thalassemia: A Panoramic Review. 62
36295656 2022
8
Red blood cell alloimmunization and other transfusion-related complications in patients with transfusion-dependent thalassemia: A multi-center study in Thailand. 62
35986658 2022
9
In Vitro Study of Ineffective Erythropoiesis in Thalassemia: Diverse Intrinsic Pathophysiological Features of Erythroid Cells Derived from Various Thalassemia Syndromes. 62
36143003 2022
10
Thalassemia Intermedia: Chelator or Not? 62
36077584 2022
11
Bone mineral density in primarily preadolescent children with hemoglobin E/β-thalassemia with different severities and transfusion requirements. 62
35652568 2022
12
Prevalence and characteristics of inflammatory rheumatic diseases in patients with thalassemia. 62
35604471 2022
13
Spontaneous Acute Mesenteric Thrombosis in a Patient With Hemoglobin E Thalassemia. 62
36128062 2022
14
IOX1 Fails to Reduce α-Globin and Mediates γ-Globin Silencing in Adult β0-Thalassemia/Hemoglobin E Erythroid Progenitor Cells. 62
35839944 2022
15
Ruxolitinib Treatment in an Adolescent With Chronic Graft-Versus-Host Disease Mimicking Eosinophilic Gastrointestinal Disorders: A Case Report. 62
35810019 2022
16
Severe microcytosis in a hemoglobin E/Β-thalassemia patient with signs of iron deficiency: A case report. 62
35734663 2022
17
Hypothyroidism in children with Hb E/β-thalassemia compared between those who received regular transfusion and those who underwent hematopoietic stem cell transplantation. 62
35499955 2022
18
Phenotypic Expression of Known and Novel Hemoglobin A2-Variants, Hemoglobin A2-Mae Phrik [Delta 52(D3) Asp > Gly, HBD:c.158A > G], Associated with Hemoglobin E [Beta 26(B8) Glu > Lys, HBB:c.79G > A] in Thailand. 62
35741722 2022
19
Usefulness of Automated Hb-HPLC Analyzer Based on Reverse-Phase Cation-Exchange Chromatography for Hemoglobin A1C Determination in the Setting with High Prevalence of Hemoglobin E Disorder. 62
36248041 2022
20
Differences in longitudinal growth patterns of children and adolescents with transfusion-dependent hemoglobin E/β-thalassemia and those achieving successful hematopoietic stem-cell transplantation. 62
35192188 2022
21
The relationship between sex hormones and glycated hemoglobin in a non-diabetic middle-aged and elderly population. 62
35382807 2022
22
Iron chelation therapy with deferiprone improves oxidative status and red blood cell quality and reduces redox-active iron in β-thalassemia/hemoglobin E patients. 62
34736078 2022
23
α0-thalassemia in affected fetuses with hemoglobin E-β0-thalassemia disease in a high-risk population in Thailand. 62
35273733 2022
24
Leg Ulcers: A Report in Patients with Hemoglobin E Beta Thalassemia and Review of the Literature in Severe Beta Thalassemia. 62
34753145 2022
25
Reduced hepcidin expression enhances iron overload in patients with HbE/β-thalassemia: Α comparative cross-sectional study. 62
34675995 2021
26
Lysine-specific histone demethylase 1 inhibition enhances robust fetal hemoglobin induction in human β0-thalassemia/hemoglobin E erythroid cells. 62
35003571 2021
27
Profiling of 35 Cases of Hb S/Hb E (HBB: c.20A>T/HBB: c.79G>a), Disease and Association with α-Thalassemia and β-Globin Gene Cluster Haplotypes from Odisha, India. 62
35243949 2021
28
Vascular pythiosis caused by Pythium aphanidermatum: the first case report in Asia. 62
34775999 2021
29
Direct Amplification of Whole Blood and Amniotic Fluid Specimens for Prenatal and Postnatal Diagnosis of Hb E-β 0-Thalassemia Diseases. 62
33528513 2021
30
Compound heterozygosity for hemoglobin S and hemoglobin E in a family of Proto-Australoid origin: a case report. 62
34334128 2021
31
Extended Phenotyping and Functional Validation Facilitate Diagnosis of a Complex Patient Harboring Genetic Variants in MCCC1 and GNB5 Causing Overlapping Phenotypes. 62
34573334 2021
32
Results from 8 years of the proficiency testing program for diagnosis of hemoglobinopathies under the prevention and control program of thalassemia in Thailand. 62
34060242 2021
33
Screening of HbE by the New Screening Test: Alcohol HbE Test (AET). 62
33501986 2021
34
MicroRNA expression patterns in HbE/β-thalassemia patients: The passwords to unlock fetal hemoglobin expression in β-hemoglobinopathies. 62
33242839 2021
35
Association of the Degree of Erythroid Expansion and Maturation Arrest with the Clinical Severity of β0-Thalassemia/Hemoglobin E Patients. 62
34535581 2021
36
Distribution of β-Thalassemia and Other Hemoglobinopathies in Bangladeshi University Students and Ready-Made Garment Workers. 62
34194252 2021
37
A Southeast Asian Perspective on the COVID-19 Pandemic: Hemoglobin E (HbE)-Trait Confers Resistance Against COVID-19. 62
33397841 2021
38
Spectrum of hemoglobin disorders in southern Odisha, India: a hospital based study. 62
33884322 2021
39
Correction of Hemoglobin E/Beta-Thalassemia Patient-Derived iPSCs Using CRISPR/Cas9. 62
33336279 2021
40
Comprehensive screening for coexisting heterozygous α0-thalassemia in hemoglobin E trait. 62
32633642 2020
41
A statistical predictive model consistent within a 5-year follow-up period for patients with acute heart failure. 62
32773590 2020
42
Challenges in transfusion and the role of Thalidomide in E-β-Thalassemia-A case report. 62
33235759 2020
43
Hemoglobin-bound platelets correlate with the increased platelet activity in hemoglobin E/β-thalassemia. 62
32539231 2020
44
Bilateral macular Roth spots as a rare manifestation of hemoglobin E trait. 62
32971683 2020
45
Hemoglobin SE Disease Presenting as a High-Altitude Massive Splenic Infarction Complicated by Hemorrhagic Conversion and Splenectomy. 62
33052282 2020
46
A Rare Case of Hemoglobin E/Beta-Thalassemia and Systemic Lupus Erythematosus. 62
33052293 2020
47
Detecting HbE Gene Using DNA Extracted from Urine Sediments by Chelex-plus-Heating Technique. 62
32382254 2020
48
A decision support scheme for beta thalassemia and HbE carrier screening. 62
32368356 2020
49
The Homozygous Hemoglobin EE Variant Is Associated with Poorer Riboflavin Status in Cambodian Women of Reproductive Age. 62
32433728 2020
50
Effect of point mutation on structure-function correlation of hemoglobin variants, HbE and HbD Punjab. 62
32468185 2020

Variations for Hemoglobin E Disease

ClinVar genetic disease variations for Hemoglobin E Disease:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LOC106099062, HBB, LOC107133510 NM_000518.5(HBB):c.79G>A (p.Glu27Lys) SNV Pathogenic
15161 rs33950507 GRCh37: 11:5248173-5248173
GRCh38: 11:5226943-5226943

Expression for Hemoglobin E Disease

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

Pathways for Hemoglobin E Disease

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 9.93 TFRC SERPINA3 HBG2 HBE1 HBD HBB
2 hemoglobin complex GO:0005833 9.65 HBQ1 HBG2 HBE1 HBD HBB
3 haptoglobin-hemoglobin complex GO:0031838 9.32 HBQ1 HBG2 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 9.96 HBQ1 HBG2 HBE1 HBD HBB
2 positive regulation of cell death GO:0010942 9.92 HBG2 HBE1 HBD HBB
3 carbon dioxide transport GO:0015670 9.76 HBB HBD HBE1 HBG2
4 hydrogen peroxide catabolic process GO:0042744 9.65 HBQ1 HBG2 HBE1 HBD HBB
5 oxygen transport GO:0015671 9.32 HBQ1 HBG2 HBE1 HBD HBB

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 10.1 HBQ1 HBG2 HBE1 HBD HBB
2 peroxidase activity GO:0004601 10.07 HBQ1 HBG2 HBE1 HBD HBB
3 oxygen binding GO:0019825 10.02 HBQ1 HBG2 HBE1 HBD HBB
4 hemoglobin alpha binding GO:0031721 9.86 HBB HBD HBE1 HBG2
5 oxygen carrier activity GO:0005344 9.85 HBQ1 HBG2 HBE1 HBD HBB
6 organic acid binding GO:0043177 9.65 HBQ1 HBG2 HBE1 HBD HBB
7 haptoglobin binding GO:0031720 9.32 HBQ1 HBG2 HBE1 HBD HBB

Sources for Hemoglobin E Disease

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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