Hemoglobin E Disease disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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...

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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:

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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

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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

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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

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Anatomical Context for Hemoglobin E Disease

Organs/tissues related to Hemoglobin E Disease:

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

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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	Chen Q...Hirsch RE	22260787	2012
2	Clinical, Hematological and Molecular Analysis of Homozygous Hb E (HBB: c.79G > A) in the Indian Population. ⁵	Jayasree D...Edison ES	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	Prajantasen T...Fucharoen S	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	Tubsuwan A...Svasti S	21732929	2011
5	Beta-Thalassemia ⁵	Origa R	20301599	2000
6	Performance analysis of machine learning algorithms and screening formulae for β-thalassemia trait screening of Indian antenatal women. ⁶²	Das R...Saha S	36174416	2022
7	Non-Transfusion-Dependent Thalassemia: A Panoramic Review. ⁶²	Shash H	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	Teawtrakul N...Red Blood Cell Disorders Study Group	35986658	2022
9	In Vitro Study of Ineffective Erythropoiesis in Thalassemia: Diverse Intrinsic Pathophysiological Features of Erythroid Cells Derived from Various Thalassemia Syndromes. ⁶²	Kaewsakulthong W...Sripichai O	36143003	2022
10	Thalassemia Intermedia: Chelator or Not? ⁶²	Lee YC...Chen RJ	36077584	2022
11	Bone mineral density in primarily preadolescent children with hemoglobin E/β-thalassemia with different severities and transfusion requirements. ⁶²	Nakavachara P...Viprakasit V	35652568	2022
12	Prevalence and characteristics of inflammatory rheumatic diseases in patients with thalassemia. ⁶²	Piriyakhuntorn P...Louthrenoo W	35604471	2022
13	Spontaneous Acute Mesenteric Thrombosis in a Patient With Hemoglobin E Thalassemia. ⁶²	Asemota J...Sarma R	36128062	2022
14	IOX1 Fails to Reduce α-Globin and Mediates γ-Globin Silencing in Adult β0-Thalassemia/Hemoglobin E Erythroid Progenitor Cells. ⁶²	Khamphikham P...Hongeng S	35839944	2022
15	Ruxolitinib Treatment in an Adolescent With Chronic Graft-Versus-Host Disease Mimicking Eosinophilic Gastrointestinal Disorders: A Case Report. ⁶²	Getsuwan S...Treepongkaruna S	35810019	2022
16	Severe microcytosis in a hemoglobin E/Β-thalassemia patient with signs of iron deficiency: A case report. ⁶²	Goretti L...Kahar H	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	Sriwichakorn C...Sanpakit K	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	Phasit A...Satthakarn S	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	Sookaromdee P...Wiwanitkit V	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	Jitpirasakun S...Nakavachara P	35192188	2022
21	The relationship between sex hormones and glycated hemoglobin in a non-diabetic middle-aged and elderly population. ⁶²	Xu Y...Bao Y	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	Morales NP...Fucharoen S	34736078	2022
23	α0-thalassemia in affected fetuses with hemoglobin E-β0-thalassemia disease in a high-risk population in Thailand. ⁶²	Yamsri S...Fucharoen S	35273733	2022
24	Leg Ulcers: A Report in Patients with Hemoglobin E Beta Thalassemia and Review of the Literature in Severe Beta Thalassemia. ⁶²	Mehta V...Olivieri NF	34753145	2022
25	Reduced hepcidin expression enhances iron overload in patients with HbE/β-thalassemia: Α comparative cross-sectional study. ⁶²	Saad HKM...Al-Jamal HAN	34675995	2021
26	Lysine-specific histone demethylase 1 inhibition enhances robust fetal hemoglobin induction in human β0-thalassemia/hemoglobin E erythroid cells. ⁶²	Kaewsakulthong W...Sripichai O	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	Dehury S...Ratha J	35243949	2021
28	Vascular pythiosis caused by Pythium aphanidermatum: the first case report in Asia. ⁶²	Thongsuk P...Suankratay C	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	Wichian P...Fucharoen S	33528513	2021
30	Compound heterozygosity for hemoglobin S and hemoglobin E in a family of Proto-Australoid origin: a case report. ⁶²	Basumatary N...Sarmah J	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	Shao Z...Vincent A	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	Pansuwan A...Fucharoen S	34060242	2021
33	Screening of HbE by the New Screening Test: Alcohol HbE Test (AET). ⁶²	Tatu T...Jawannatoom C	33501986	2021
34	MicroRNA expression patterns in HbE/β-thalassemia patients: The passwords to unlock fetal hemoglobin expression in β-hemoglobinopathies. ⁶²	Das SS...Chakravorty N	33242839	2021
35	Association of the Degree of Erythroid Expansion and Maturation Arrest with the Clinical Severity of β0-Thalassemia/Hemoglobin E Patients. ⁶²	Suriyun T...Sripichai O	34535581	2021
36	Distribution of β-Thalassemia and Other Hemoglobinopathies in Bangladeshi University Students and Ready-Made Garment Workers. ⁶²	Islam MM...Hossain M	34194252	2021
37	A Southeast Asian Perspective on the COVID-19 Pandemic: Hemoglobin E (HbE)-Trait Confers Resistance Against COVID-19. ⁶²	Papadopoulos KI...Aw TC	33397841	2021
38	Spectrum of hemoglobin disorders in southern Odisha, India: a hospital based study. ⁶²	Sahu P...Mishra DP	33884322	2021
39	Correction of Hemoglobin E/Beta-Thalassemia Patient-Derived iPSCs Using CRISPR/Cas9. ⁶²	Wattanapanitch M	33336279	2021
40	Comprehensive screening for coexisting heterozygous α0-thalassemia in hemoglobin E trait. ⁶²	Polprasert C...Rojnuckarin P	32633642	2020
41	A statistical predictive model consistent within a 5-year follow-up period for patients with acute heart failure. ⁶²	Guo CY...Cheng HM	32773590	2020
42	Challenges in transfusion and the role of Thalidomide in E-β-Thalassemia-A case report. ⁶²	Javed R...Chandy M	33235759	2020
43	Hemoglobin-bound platelets correlate with the increased platelet activity in hemoglobin E/β-thalassemia. ⁶²	Chamchoi A...Sibmooh N	32539231	2020
44	Bilateral macular Roth spots as a rare manifestation of hemoglobin E trait. ⁶²	Gupta K...Deshmukh S	32971683	2020
45	Hemoglobin SE Disease Presenting as a High-Altitude Massive Splenic Infarction Complicated by Hemorrhagic Conversion and Splenectomy. ⁶²	Pajak A...Smith B	33052282	2020
46	A Rare Case of Hemoglobin E/Beta-Thalassemia and Systemic Lupus Erythematosus. ⁶²	Khamees I...Yassin MA	33052293	2020
47	Detecting HbE Gene Using DNA Extracted from Urine Sediments by Chelex-plus-Heating Technique. ⁶²	Pankham A...Tatu T	32382254	2020
48	A decision support scheme for beta thalassemia and HbE carrier screening. ⁶²	Das R...Saha S	32368356	2020
49	The Homozygous Hemoglobin EE Variant Is Associated with Poorer Riboflavin Status in Cambodian Women of Reproductive Age. ⁶²	Williams BA...Karakochuk CD	32433728	2020
50	Effect of point mutation on structure-function correlation of hemoglobin variants, HbE and HbD Punjab. ⁶²	Narayanan S...Mandal AK	32468185	2020

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Genes for Hemoglobin E Disease

Genes related to Hemoglobin E Disease (3 elite genes):

(show all 18)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	HBB	Hemoglobin Subunit Beta	Protein Coding	757.07	Pathogenic ⁵ Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴	20301599 26554862 25370867 (more) 21732929 22260787 21886666
2	LOC106099062	HBB Recombination Region	Functional Element	400	Pathogenic ⁵	20301599 26554862 25370867 (more) 21732929 22260787
3	LOC107133510	Origin Of Replication At HBB	Functional Element	400	Pathogenic ⁵	20301599 26554862 25370867 (more) 21732929 22260787
4	HBE1	Hemoglobin Subunit Epsilon 1	Protein Coding	9.61	DISEASES inferred ¹⁴
5	HBQ1	Hemoglobin Subunit Theta 1	Protein Coding	7.17	DISEASES inferred ¹⁴
6	HBD	Hemoglobin Subunit Delta	Protein Coding	7.07	DISEASES inferred ¹⁴
7	SERPINA3	Serpin Family A Member 3	Protein Coding	6.43	DISEASES inferred ¹⁴ ¹⁴
8	HBS1L	HBS1 Like Translational GTPase	Protein Coding	6	DISEASES inferred ¹⁴
9	KLF1	KLF Transcription Factor 1	Protein Coding	5.91	DISEASES inferred ¹⁴
10	BCL11A	BCL11 Transcription Factor A	Protein Coding	5.81	DISEASES inferred ¹⁴
11	MTCH1	Mitochondrial Carrier 1	Protein Coding	5.19	DISEASES inferred ¹⁴
12	APC2	APC Regulator Of WNT Signaling Pathway 2	Protein Coding	4.95	DISEASES inferred ¹⁴
13	CAST	Calpastatin	Protein Coding	4.7	DISEASES inferred ¹⁴
14	ARHGAP18	Rho GTPase Activating Protein 18	Protein Coding	4.61	DISEASES inferred ¹⁴
15	TFRC	Transferrin Receptor	Protein Coding	4.56	DISEASES inferred ¹⁴
16	CAPZB	Capping Actin Protein Of Muscle Z-Line Subunit Beta	Protein Coding	4.56	DISEASES inferred ¹⁴
17	HBG2	Hemoglobin Subunit Gamma 2	Protein Coding	4.49	DISEASES inferred ¹⁴
18	PDLIM1	PDZ And LIM Domain 1	Protein Coding	4.47	DISEASES inferred ¹⁴

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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

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Expression for Hemoglobin E Disease

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

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Pathways for Hemoglobin E Disease

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

#	Super pathways	Score	Top Affiliating Genes
1	Golgi-to-ER retrograde transport ⁶⁶ Show member pathways COPI-dependent Golgi-to-ER retrograde traffic ⁶⁶ Factors involved in megakaryocyte development and platelet production ⁶⁶ Intra-Golgi and retrograde Golgi-to-ER traffic ⁶⁶ Kinesins ⁶⁶ MHC class II antigen presentation ⁶⁶	12.25	HBG2 HBE1 HBD HBB CAPZB
2	Response to elevated platelet cytosolic Ca2+ ⁶⁶ Show member pathways Disinhibition of SNARE formation ⁶⁶ Hemostasis ⁶⁶ Platelet activation, signaling and aggregation ⁶⁶ Platelet degranulation ⁶⁶	12.16	SERPINA3 HBG2 HBE1 HBD HBB CAPZB

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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

Sources for Hemoglobin E Disease

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: HMG003 MIFTS: 44	Hemoglobin E Disease Categories: Blood diseases, Endocrine diseases, Genetic diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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