MCID: HMG029
MIFTS: 40

Hemoglobin Se Disease

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

Aliases & Classifications for Hemoglobin Se Disease

MalaCards integrated aliases for Hemoglobin Se Disease:

Name: Hemoglobin Se Disease 53 72
Sickle Cell-Hemoglobin E Disease Syndrome 53 59
Hb Ss Disease 29 6
Hbse Disease 53 59
Sickle Cell - Hemoglobin E Disease 53
Anemia, Sickle Cell 72
Hemoglobin S 6

Characteristics:

Orphanet epidemiological data:

59
sickle cell-hemoglobin e disease syndrome
Inheritance: Autosomal recessive; Age of onset: All ages;

Classifications:



External Ids:

ICD10 via Orphanet 34 D57.2
UMLS via Orphanet 73 C0272085
Orphanet 59 ORPHA251375
UMLS 72 C0002895 C1112747

Summaries for Hemoglobin Se Disease

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 251375DefinitionA rare, genetic hemoglobinopathy usually characterized by mild hemolysis without vaso-occlusive complications or abnormality of red blood cell morphology. However, more severe manifestations have also been reported, including hematuria, splenic infarction, acute chest syndrome, acute episodes of pain and reversible bone marrow necrosis.Visit the Orphanet disease page for more resources.

MalaCards based summary : Hemoglobin Se Disease, also known as sickle cell-hemoglobin e disease syndrome, is related to sickle cell disease and alpha-thalassemia, and has symptoms including angina pectoris, abdominal pain and edema. An important gene associated with Hemoglobin Se Disease is HBB (Hemoglobin Subunit Beta). The drugs Hydroxyurea and Deferasirox have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and endothelial.

Related Diseases for Hemoglobin Se Disease

Diseases in the Hemoglobin H Disease family:

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

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

(show top 50) (show all 67)
# Related Disease Score Top Affiliating Genes
1 sickle cell disease 12.2
2 alpha-thalassemia 10.3
3 hemoglobin e disease 10.2
4 plasmodium falciparum malaria 10.1
5 glucosephosphate dehydrogenase deficiency 10.1
6 hemolytic anemia 10.1
7 thalassemia 10.1
8 deficiency anemia 10.1
9 splenic sequestration 10.1
10 splenic infarction 10.1
11 hemoglobin d disease 10.1
12 fetal hemoglobin quantitative trait locus 6 10.0
13 helix syndrome 10.0
14 47,xyy 10.0
15 splenomegaly 10.0
16 avascular necrosis 10.0
17 sickle cell anemia 10.0
18 malaria 10.0
19 hemoglobin e-beta-thalassemia syndrome 10.0
20 beta-thalassemia 10.0
21 acute chest syndrome 10.0
22 hemoglobinopathy 10.0
23 fetal hemoglobin quantitative trait locus 1 9.9
24 down syndrome 9.9
25 microcytic anemia 9.9
26 megaloblastic anemia 9.9
27 hemoglobin c disease 9.9
28 hand skill, relative 9.8
29 hypertension, essential 9.8
30 nail disorder, nonsyndromic congenital, 2 9.8
31 sarcoidosis 1 9.8
32 cystic fibrosis 9.8
33 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.8
34 plasmodium falciparum blood infection level 9.8
35 gallbladder disease 1 9.8
36 diabetes mellitus, ketosis-prone 9.8
37 leukemia, acute lymphoblastic 9.8
38 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 9.8
39 erythrocytosis, familial, 6 9.8
40 oculocutaneous albinism 9.8
41 salmonellosis 9.8
42 osteomyelitis 9.8
43 cholelithiasis 9.8
44 lymphocytic leukemia 9.8
45 hemiplegia 9.8
46 respiratory failure 9.8
47 lyme disease 9.8
48 hemosiderosis 9.8
49 neutropenia 9.8
50 guillain-barre syndrome 9.8

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



Diseases related to Hemoglobin Se Disease

Symptoms & Phenotypes for Hemoglobin Se Disease

UMLS symptoms related to Hemoglobin Se Disease:


angina pectoris, abdominal pain, edema, chest pain

Drugs & Therapeutics for Hemoglobin Se Disease

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

(show top 50) (show all 362)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydroxyurea Approved Phase 4 127-07-1 3657
2
Deferasirox Approved, Investigational Phase 4 201530-41-8 5493381
3
Hydromorphone Approved, Illicit Phase 4 466-99-9 5284570
4
Acetaminophen Approved Phase 4 103-90-2 1983
5
Sulfadoxine Approved, Investigational Phase 4 2447-57-6 17134
6
Pyrimethamine Approved, Investigational, Vet_approved Phase 4 58-14-0 4993
7
Amodiaquine Approved, Investigational Phase 4 86-42-0 2165
8
Proguanil Approved Phase 4 500-92-5 4923
9
Tocopherol Approved, Investigational Phase 4 1406-66-2, 54-28-4 14986
10
Desogestrel Approved Phase 4 54024-22-5 40973
11
Etonogestrel Approved, Investigational Phase 4 54048-10-1 6917715 40976
12
Deferiprone Approved Phase 4 30652-11-0 2972
13
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
14
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
15
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
16
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
17
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
18
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 6221 5280795
19
Calcifediol Approved, Nutraceutical Phase 4 19356-17-3 6433735 5283731
20
Dihydroartemisinin Experimental, Investigational Phase 4 71939-50-9 6918483
21
Piperaquine Experimental, Investigational Phase 4 4085-31-8 5079497
22 Tocotrienol Investigational Phase 4 6829-55-6
23 Nucleic Acid Synthesis Inhibitors Phase 4
24 Liver Extracts Phase 4
25 Chelating Agents Phase 4
26 Antipyretics Phase 4
27 Folic Acid Antagonists Phase 4
28 Renal Agents Phase 4
29 Antiparasitic Agents Phase 4
30 Antiprotozoal Agents Phase 4
31 Antimalarials Phase 4
32 Anti-Infective Agents, Urinary Phase 4
33 Artemisinins Phase 4
34 Artemisinine Phase 4
35 Angiogenesis Inhibitors Phase 4
36 Angiogenesis Modulating Agents Phase 4
37 Tocopherols Phase 4
38 Tocotrienols Phase 4
39 Hormone Antagonists Phase 4
40 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
41 Small inducible cytokine subfamily E, member 1 Phase 4
42 Contraceptives, Oral Phase 4
43 Progestins Phase 4
44 Contraceptive Agents Phase 4
45
Ethylene Phase 4 74-85-1 6325
46 Vitamins Phase 4
47 Trace Elements Phase 4
48 Micronutrients Phase 4
49 Nutrients Phase 4
50 Ergocalciferols Phase 4

Interventional clinical trials:

(show top 50) (show all 670)
# Name Status NCT ID Phase Drugs
1 Effect of Mobile-Directly Observed Therapy (DOT) on Adherence to Hydroxyurea Treatment in Adult HbSS Patients at Muhimbili National Hospital (MNH) in Tanzania: a Pilot Study Unknown status NCT02844673 Phase 4 Hydroxyurea
2 Evaluation of the Impact of Renal Function on the Pharmacokinetics of Hydroxyurea (SIKLOS ®) in Normal-renal Function, Hyperfiltrating and Renal Failure Sickle Cell Disease Patients (DARH) Completed NCT02522104 Phase 4 Siklos
3 Intranasal Fentanyl for Initial Treatment of a Vaso-occlusive Crisis: A Randomized, Double Blind Placebo Controlled Trial Completed NCT01482091 Phase 4 Fentanyl Citrate;Normal Saline
4 Rejuvesol® Washed RBC in Sickle Cell Patients Requiring Frequent Transfusions Completed NCT02731157 Phase 4 Rejuvesol
5 Pilot Pharmacokinetic Study In Patients With Inadequate Response To Deferasirox (Exjade) Completed NCT00749515 Phase 4 Deferoxamine;Deferasirox
6 Intranasal Fentanyl Versus Intravenous Morphine in the Emergency Department Treatment of Severe Painful Sickle Cell Crises in Children Completed NCT03682211 Phase 4 Fentanyl Citrate;Morphine sulphate
7 Future of Spermatogenesis in Men With Sickle Cell Disease Medically Treated. Completed NCT01609192 Phase 4 Hydrea® (hydroxyurea )
8 Comparing Acute Pain Management Protocols for Patients With Sickle Cell Disease Completed NCT02222246 Phase 4 Hydromorphone (Standardized, weight-based dosing);Morphine Sulfate (Standardized, weight-based dosing);Hydromorphone (Patient Specific dosing);Morphine Sulfate (Patient Specific dosing)
9 Does IV Acetaminophen Reduce Opioid Requirement in Pediatric Emergency Department Patients With Acute Sickle Cell Crises? Recruiting NCT03541980 Phase 4 Acetaminophen;Normal saline
10 The Efficacy and Safety of Ferriprox® for the Treatment of Transfusional Iron Overload in Patients With Sickle Cell Disease or Other Anemias Recruiting NCT02041299 Phase 4 Deferiprone;Deferoxamine
11 Enhancing Preventive Therapy of Malaria In Children With Sickle Cell Anemia in East Africa (EPiTOMISE) Recruiting NCT03178643 Phase 4 Proguanil Oral Tablet;Sulfadoxine/Pyrimethanine-Amodiaquine (SP-AQ);Dihydroartemisinin-Piperaquine (DP)
12 Endothelial Monocyte-activating Polypeptide-II as an Endothelial Dysfunction Marker and Its Relation to the Oxidative Stress in Egyptian Sickle Patients Active, not recruiting NCT03903133 Phase 4 Vitamin E
13 Risk Stratification for Clinical Severity of Sickle Cell Disease in Nigeria and Assessment of Efficacy and Safety During Treatment With Hydroxyurea Active, not recruiting NCT02149537 Phase 4 hydroxyurea
14 Use of Etonogestrel-releasing Contraceptive Implant in Women With Sickle Cell Disease Active, not recruiting NCT02594462 Phase 4 etonogestrel-releasing implant contraceptive
15 Long-term Safety and Efficacy Study of Ferriprox® for the Treatment of Transfusional Iron Overload in Patients With Sickle Cell Disease or Other Anemias Enrolling by invitation NCT02443545 Phase 4 Deferiprone
16 A Randomized Phase IV Control Trial of Single High Dose Oral Vitamin D3 (Stoss Therapy) in Pediatric Patients Undergoing HSCT to Prevent Vitamin D Deficiency and Insufficiency During Transplant Enrolling by invitation NCT03176849 Phase 4
17 Early Low-dose Ketamine Infusion Versus Usual Care for Sickle Cell Pain Crisis: a Randomized, Prospective Study. Not yet recruiting NCT04005209 Phase 4 Ketamine
18 An Open, Multicenter Clinical Trial to Investigate the Immunogenicity and Safety of the Pneumococcal 7-Valent Conjugate Vaccine (PREVENAR) in Sickle Cell Disease Infants. Terminated NCT00368186 Phase 4
19 A Pilot Study on the Effects of Intravenous Ketamine on Acute Pain Crisis in Patients With Sickle Cell Disease Terminated NCT00252122 Phase 4 Ketamine
20 An Evaluation of the Effectiveness of Ibuprofen and Opioid (Morphine or Diamorphine) for Acute Pain in Sickle Cell Disease: a Double-blind, Placebo-controlled Randomised Trial Terminated NCT00880373 Phase 4 Ibuprofen;Placebo;Diamorphine or Morphine
21 Ketorolac Versus Ibuprofen for the Painful Crisis of Sickle Cell Disease - Southwestern Comprehensive Sickle Cell Center Terminated NCT00115336 Phase 4 Intravenous Ketorolac;Ibuprofen
22 Endothelial Function in Patients With Sickle Cell Anemia Before and After Sildenafil Withdrawn NCT00937144 Phase 4 Viagra (Sildenafil);placebo
23 Non-Invasive Assessment of Opioid Analgesia in Children With Sickle Cell Disease Withdrawn NCT00513864 Phase 4 Dextromethorphan;Codeine;Morphine
24 Transfusion Alternatives Pre-Operatively in Sickle Cell Disease Unknown status NCT00512577 Phase 3
25 Omega 3 Fatty Acid Therapy for Prevention of Vaso-occlusive Crisis and Manifestations in Omani Patients With Sickle Cell Disease Unknown status NCT02525107 Phase 3
26 Ketamine as an Adjuvant Therapy for Acute Vaso Occlusive Crisis in Pediatric Patients With Sickle Cell Disease, a Pilot Study Unknown status NCT02801292 Phase 3 Ketamine
27 A Prospective Randomized Comparative Study of Efficacy and Safety of Combined Deferiprone (DFP) and Deferasirox Versus DFP and Desferrioxamine (DFO) Therapy in Diseases With Severe Iron Overload Unknown status NCT01511848 Phase 2, Phase 3 DFP (ferriprox) and deferasirox (ICL 670);DFP, DFO
28 Development of a Ready-to-use Nutraceutical Food for Patients With Sickle Cell Disease (SCD): Testing of Vascular Support Components Unknown status NCT01718054 Phase 2, Phase 3 Chloroquine
29 Stroke Prevention in Sickle Cell Anemia (STOP 1) Completed NCT00000592 Phase 3
30 Multicenter Study of Hydroxyurea in Patients With Sickle Cell Anemia (MSH) Completed NCT00000586 Phase 3 hydroxyurea
31 A PHASE 3, MULTICENTER, RANDOMIZED, DOUBLE-BLIND, PLACEBO-CONTROLLED, PARALLEL-GROUP STUDY TO EVALUATE THE EFFICACY AND SAFETY OF RIVIPANSEL (GMI-1070) IN THE TREATMENT OF VASO-OCCLUSIVE CRISIS IN HOSPITALIZED SUBJECTS WITH SICKLE CELL DISEASE Completed NCT02187003 Phase 3 Rivipansel
32 MAST - Magnesium for Sickle Cell Acute Crisis in Children Completed NCT00313963 Phase 3 Magnesium Sulfate;Normal Saline
33 Evaluation of Repeat Administration of Purified Poloxamer 188 in Vaso-Occlusive Crisis of Sickle Cell Disease (EPIC-E): An Open-Label Safety Extension Trial Assessing Repeat Administration of MST-188 (Purified Poloxamer 188) Injection in Subjects With Sickle Cell Disease Experiencing Vaso Occlusive Crisis Completed NCT02449616 Phase 3 MST-188
34 Evaluation of Purified Poloxamer 188 in Vaso-Occlusive Crisis of Sickle Cell Disease (EPIC): A Phase 3 Randomized, Double-Blind, Placebo-Controlled, Multicenter Clinical Trial of MST-188 (Purified Poloxamer 188) Injection in Subjects With Sickle Cell Disease Experiencing Vaso Occlusive Crisis Completed NCT01737814 Phase 3 Saline;MST-188
35 A Study to Provide Expanded Access of (Exjade®) Deferasirox to Patients With Congenital Disorders of Red Blood Cells and Chronic Iron Overload From Blood Transfusions Who Cannot Adequately be Treated With Other Locally Approved Iron Chelators Completed NCT00235391 Phase 3 Deferasirox
36 Phase III Randomized Study of Poloxamer 188 for Vaso-Occlusive Crisis of Sickle Cell Disease Completed NCT00004408 Phase 3 poloxamer 188
37 A Phase 3, Open-Label, Single-Arm Trial Evaluating the Safety, Tolerability, and Immunogenicity of 13-valent Pneumococcal Conjugate Vaccine in Children With Sickle Cell Disease Previously Immunized With 23vPS Vaccine Completed NCT00918580 Phase 3
38 Penicillin Prophylaxis in Sickle Cell Disease (PROPS) Completed NCT00000585 Phase 3 penicillin
39 Ameliorating Attention Problems in Children With SCD Completed NCT01411280 Phase 3 methylphenidate
40 A Randomized, Controlled, Double-blind Clinical Trial of L-arginine as Adjuvant Therapy for Sickle Cell Disease Completed NCT01142219 Phase 3 L-arginine;Placebo
41 N-Acetylcysteine in Patients With Sickle Cell Disease - Reducing the Incidence of Daily Life Pain Completed NCT01849016 Phase 3 N-Acetylcysteine;Placebo
42 A PHASE III, PROSPECTIVE, RANDOMIZED, DOUBLE-BLIND, PLACEBO-CONTROLLED, PARALLEL-GROUP, MULTICENTER STUDY OF L GLUTAMINE THERAPY FOR SICKLE CELL ANEMIA AND SICKLE ß0-THALASSEMIA Completed NCT01179217 Phase 3 L-glutamine;Placebo
43 Bicentric Study of the Effect of Inhaled Nitric Oxide Compared to Placebo in Acute Chest Syndrome of Adult Sickle Cell Patients Completed NCT00748423 Phase 2, Phase 3 Nitric Oxide;Placebo
44 Intravenous Magnesium for Sickle Cell Vasoocclusive Crisis Completed NCT01197417 Phase 2, Phase 3 Intravenous Magnesium Sulfate;Normal Saline Placebo
45 Presumptive Treatment With Sulfadoxine- Pyrimethamine Versus Weekly Chloroquine for Malaria Prophylaxis in Children With Sickle Cell Anemia Completed NCT00399074 Phase 3 sulfadoxine pyrimethamine
46 Choosing Opioid Management for Pain and Analyzing ACS Rates Equally Completed NCT01380197 Phase 3 Morphine;Nubain
47 Pediatric Hydroxyurea Phase III Clinical Trial (BABY HUG) Completed NCT00006400 Phase 3 Hydroxyurea;Placebo
48 Stroke Prevention in Sickle Cell Anemia (STOP 2) Completed NCT00006182 Phase 3
49 Evaluation of the Lung Capillary Blood Volume in Children With Sickle Cell Disease Completed NCT00560261 Phase 3
50 Novel Use Of Hydroxyurea in an African Region With Malaria Completed NCT01976416 Phase 3 Hydroxyurea;Placebo

Search NIH Clinical Center for Hemoglobin Se Disease

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Sodium phenylbutyrate

Genetic Tests for Hemoglobin Se Disease

Genetic tests related to Hemoglobin Se Disease:

# Genetic test Affiliating Genes
1 Hb Ss Disease 29 HBB

Anatomical Context for Hemoglobin Se Disease

MalaCards organs/tissues related to Hemoglobin Se Disease:

41
Bone, Bone Marrow, Endothelial, T Cells, Kidney, Liver, Testes

Publications for Hemoglobin Se Disease

Articles related to Hemoglobin Se Disease:

(show top 50) (show all 55)
# Title Authors PMID Year
1
Hemoglobins S and C interfere with actin remodeling in Plasmodium falciparum-infected erythrocytes. 71
22075726 2011
2
Sickle hemoglobin confers tolerance to Plasmodium infection. 71
21529713 2011
3
Genetic variation in human HBB is associated with Plasmodium falciparum transmission. 71
20305663 2010
4
Haemoglobin S and haemoglobin C: 'quick but costly' versus 'slow but gratis' genetic adaptations to Plasmodium falciparum malaria. 71
18048408 2008
5
Impaired cytoadherence of Plasmodium falciparum-infected erythrocytes containing sickle hemoglobin. 71
18192399 2008
6
Elderly survivors with homozygous sickle cell disease. 71
17287491 2007
7
How malaria has affected the human genome and what human genetics can teach us about malaria. 71
16001361 2005
8
A new variant with two amino acid substitutions: Hb S-Cameroon [beta6(A3)Glu-->Val;beta90(F6)Glu-->Lys]. 71
15182055 2004
9
Primary role for adherent leukocytes in sickle cell vascular occlusion: a new paradigm. 71
11880644 2002
10
Arginine supplementation of sickle transgenic mice reduces red cell density and Gardos channel activity. 71
11830454 2002
11
Molecular analysis of the beta-globin gene cluster in the Niokholo Mandenka population reveals a recent origin of the beta(S) Senegal mutation. 71
11741197 2002
12
Hb Köln [beta98(FG5)Val-->Met]: the first case found in a Chinese family. 71
9859938 1998
13
A transgenic mouse model of hemoglobin S Antilles disease. 71
9166865 1997
14
Mortality in sickle cell disease. Life expectancy and risk factors for early death. 71
7993409 1994
15
Sequence of the -530 region of the beta-globin gene of sickle cell anemia patients with the Arabian haplotype. 71
8199597 1994
16
Why are some genetic diseases common? Distinguishing selection from other processes by molecular analysis of globin gene variants. 71
8462981 1993
17
A novel sickle cell mutation of yet another origin in Africa: the Cameroon type. 71
1376298 1992
18
Trapped-oligonucleotide nucleotide incorporation (TONI) assay, a simple method for screening point mutations. 71
1301203 1992
19
Hb Rancho Mirage [beta 143(H21)His----Asp]; a variant in the 2,3-DPG binding site showing normal oxygen affinity at physiological pH. 71
1634360 1992
20
Genetic disease detection and DNA amplification using cloned thermostable ligase. 71
1986365 1991
21
Haemoglobin alpha 2 beta 2 23Val----Ile produced in Escherichia coli facilitates Hb S polymerization. 71
2189492 1990
22
A transgenic mouse model of sickle cell disorder. 71
2296310 1990
23
Molecular basis and prenatal diagnosis of beta-thalassemia. 71
3048433 1988
24
Hb A-like sickle haemoglobin: Hb S-providence. 71
3191036 1988
25
Structural analysis of the 5' flanking region of the beta-globin gene in African sickle cell anemia patients: further evidence for three origins of the sickle cell mutation in Africa. 71
2898142 1988
26
Beta S gene in Sicily is in linkage disequilibrium with the Benin haplotype: implications for gene flow. 71
2893541 1988
27
Sickle cell trait in a white Jewish family presenting as splenic infarction at high altitude. 71
3354556 1988
28
Evidence of the African origin of sickle cell hemoglobin in western Sicily. 71
2898460 1988
29
Globin gene-associated restriction-fragment-length polymorphisms in southern African peoples. 71
2891298 1987
30
Position-independent, high-level expression of the human beta-globin gene in transgenic mice. 71
3690667 1987
31
Rapid prenatal diagnosis of sickle cell anemia by a new method of DNA analysis. 71
3821796 1987
32
Hemoglobin S Antilles: a variant with lower solubility than hemoglobin S and producing sickle cell disease in heterozygotes. 71
3467311 1986
33
Geographical survey of beta S-globin gene haplotypes: evidence for an independent Asian origin of the sickle-cell mutation. 71
3752087 1986
34
Hematologically and genetically distinct forms of sickle cell anemia in Africa. The Senegal type and the Benin type. 71
2579336 1985
35
Evidence for the multicentric origin of the sickle cell hemoglobin gene in Africa. 71
6584911 1984
36
Origin of the beta S-globin gene in blacks: the contribution of recurrent mutation or gene conversion or both. 71
6583683 1984
37
Use of restriction endonucleases for mapping the allele for beta s-globin. 71
6285354 1982
38
Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster. 71
6280057 1982
39
Sickle gene. Its origin and diffusion from West Africa. 71
6268660 1981
40
Direct identification of sickle cell anemia by blot hybridization. 71
6272289 1981
41
Antenatal diagnosis of sickle-cell anaemia by D.N.A. analysis of amniotic-fluid cells. 71
81926 1978
42
Identification of a nondeletion defect in alpha-thalassemia. 71
909565 1977
43
Relatively benign sickle-cell anaemia in 60 patients aged over 30 in the West Indies. 71
4232783 1968
44
Abnormal human haemoglobins. III. The chemical difference between normal and sickle cell haemoglobins. 71
13852872 1959
45
Gene mutations in human haemoglobin: the chemical difference between normal and sickle cell haemoglobin. 71
13464827 1957
46
A specific chemical difference between the globins of normal human and sickle-cell anaemia haemoglobin. 71
13369537 1956
47
Protection afforded by sickle-cell trait against subtertian malareal infection. 71
13115700 1954
48
Further studies on hemoglobin C. I. A description of three additional families segregating for hemoglobin C and sickle cell hemoglobin. 71
13066514 1953
49
Sickle cell anemia a molecular disease. 71
15395398 1949
50
Unrecognized hemoglobin SE disease as microcytosis. 38
27365881 2016

Variations for Hemoglobin Se Disease

ClinVar genetic disease variations for Hemoglobin Se Disease:

6 (show all 24)
# 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_000518.5(HBB): c.249G> Y (p.Lys83Asn) single nucleotide variant Pathogenic rs33991993 11:5247873-5247873 11:5226643-5226643
3 HBB NM_000518.5(HBB): c.20A> T (p.Glu7Val) single nucleotide variant Pathogenic rs334 11:5248232-5248232 11:5227002-5227002
4 HBB NM_000518.5(HBB): c.52A> T (p.Lys18Ter) single nucleotide variant Pathogenic rs33986703 11:5248200-5248200 11:5226970-5226970
5 HBB NM_000518.5(HBB): c.118C> T (p.Gln40Ter) single nucleotide variant Pathogenic rs11549407 11:5248004-5248004 11:5226774-5226774
6 HBB NM_000518.5(HBB): c.92+1G> A single nucleotide variant Pathogenic rs33971440 11:5248159-5248159 11:5226929-5226929
7 HBB NM_000518.5(HBB): c.315+1G> A single nucleotide variant Pathogenic rs33945777 11:5247806-5247806 11:5226576-5226576
8 HBB NM_000518.5(HBB): c.92+5G> C single nucleotide variant Pathogenic rs33915217 11:5248155-5248155 11:5226925-5226925
9 HBB NM_000518.5(HBB): c.92+6T> C single nucleotide variant Pathogenic rs35724775 11:5248154-5248154 11:5226924-5226924
10 HBB NM_000518.5(HBB): c.93-21G> A single nucleotide variant Pathogenic rs35004220 11:5248050-5248050 11:5226820-5226820
11 HBB NM_000518.5(HBB): c.316-106C> G single nucleotide variant Pathogenic rs34690599 11:5247062-5247062 11:5225832-5225832
12 HBB NM_000518.5(HBB): c.-79A> G single nucleotide variant Pathogenic rs34598529 11:5248330-5248330 11:5227100-5227100
13 HBB NM_000518.4(HBB): c.364G> A (p.Glu122Lys) single nucleotide variant Pathogenic rs33946267 11:5246908-5246908 11:5225678-5225678
14 HBB NM_000518.4(HBB): c.19G> A (p.Glu7Lys) single nucleotide variant Pathogenic rs33930165 11:5248233-5248233 11:5227003-5227003
15 HBB NM_000518.5(HBB): c.70G> A (p.Val24Ile) single nucleotide variant Pathogenic rs33929459 11:5248182-5248182 11:5226952-5226952
16 HBB NM_000518.5(HBB): c.-137C> A single nucleotide variant Pathogenic/Likely pathogenic rs33941377 11:5248388-5248388 11:5227158-5227158
17 HBB NM_000518.5(HBB): c.-138C> A single nucleotide variant Pathogenic/Likely pathogenic rs33944208 11:5248389-5248389 11:5227159-5227159
18 HBB NM_000518.4(HBB): c.208G> A (p.Gly70Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs33947415 11:5247914-5247914 11:5226684-5226684
19 HBB NM_000518.4(HBB): c.364G> C (p.Glu122Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs33946267 11:5246908-5246908 11:5225678-5225678
20 HBB NM_000518.4(HBB): c.271G> A (p.Glu91Lys) single nucleotide variant Uncertain significance rs33913712 11:5247851-5247851 11:5226621-5226621
21 HBB NM_000518.5(HBB): c.*56A> T single nucleotide variant Uncertain significance rs537944366 11:5246772-5246772 11:5225542-5225542
22 HBB NM_000518.5(HBB): c.*53C> A single nucleotide variant Uncertain significance rs886048393 11:5246775-5246775 11:5225545-5225545
23 HBB NM_000518.5(HBB): c.9T> C (p.His3=) single nucleotide variant Benign rs713040 11:5248243-5248243 11:5227013-5227013
24 HBB NM_000518.5(HBB): c.428C> T (p.Ala143Val) single nucleotide variant no interpretation for the single variant rs33921821 11:5246844-5246844 11:5225614-5225614

Expression for Hemoglobin Se Disease

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

Pathways for Hemoglobin Se Disease

GO Terms for Hemoglobin Se Disease

Sources for Hemoglobin Se 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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