Aliases & Classifications for Hemoglobinopathy

MalaCards integrated aliases for Hemoglobinopathy:

Name: Hemoglobinopathy 12 76 53 29 6 15
Hemoglobinopathies 12 55 3 44 15 73

Classifications:



External Ids:

Disease Ontology 12 DOID:2860
ICD10 33 D58.2
MeSH 44 D006453
NCIt 50 C3092
SNOMED-CT 68 80141007
UMLS 73 C0019045

Summaries for Hemoglobinopathy

CDC : 3 Hemoglobinopathies is the medical term for a group of blood disorders and diseases that affect red blood cells. These disorders include both sickle cell disease (SCD) and thalassemia.

MalaCards based summary : Hemoglobinopathy, also known as hemoglobinopathies, is related to methemoglobinemia, beta-globin type and heinz body anemias, and has symptoms including cyanosis An important gene associated with Hemoglobinopathy 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 Peginterferon alfa-2a and Peginterferon alfa-2b have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and testes, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Wikipedia : 76 Hemoglobinopathy is a kind of genetic defect that results in abnormal structure of one of the globin... more...

Related Diseases for Hemoglobinopathy

Diseases related to Hemoglobinopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 163)
# Related Disease Score Top Affiliating Genes
1 methemoglobinemia, beta-globin type 32.6 HBA1 HBA2 HBB
2 heinz body anemias 32.6 HBA1 HBA2 HBB
3 sickle cell disease 30.5 EPO HBA2 HBB HBD HBG1
4 hydrops fetalis 30.4 HBA1 HBA2
5 glucosephosphate dehydrogenase deficiency 30.3 HBB HP UGT1A1
6 iron metabolism disease 30.0 EPO HFE TF
7 sickle cell anemia 30.0 EPO HBA1 HBA2 HBB HBG1 UGT1A1
8 hemoglobin c disease 30.0 HBB HBD HBE1
9 hemoglobin e disease 29.7 HBB HBD HBE1
10 hemolytic anemia 29.7 EPO HBA1 HBA2 HBB HP
11 hemosiderosis 29.7 EPO HAMP HFE TF
12 thalassemia 29.6 EPO HBA1 HBA2 HBB HBD HBE1
13 iron deficiency anemia 29.6 EPO HAMP HFE TF
14 alpha-thalassemia 29.1 EPO HBA1 HBA2 HBB HBE1 HBG1
15 malaria 29.1 EPO HAMP HBA1 HBA2 HBB HP
16 deficiency anemia 29.1 EPO HAMP HBA2 HBB HFE HP
17 beta-thalassemia 28.8 EPO HBA1 HBA2 HBB HBD HBE1
18 congenital hemolytic anemia 28.0 EPO HBA2 HBB HBD HBE1 HBG1
19 hemoglobinopathy toms river 12.1
20 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema 11.1
21 familial avascular necrosis of the femoral head 11.1
22 pulmonary hypertension 10.3
23 hemoglobin zurich 10.3 HBA2 HBB
24 hemoglobin lepore-beta-thalassemia syndrome 10.3 HBB HBD
25 alpha-thalassemia/mental retardation syndrome, chromosome 16-related 10.3 HBA1 HBA2
26 hemoglobin d disease 10.3 HBB HBD
27 diabetes mellitus, insulin-dependent, 24 10.3 HBA1 HBA2
28 hydrops fetalis, nonimmune 10.3 HBA1 HBA2
29 immune hydrops fetalis 10.3 HBA1 HBA2
30 hematopoietic stem cell transplantation 10.3
31 malignant secondary hypertension 10.3 HBB HBD
32 hypoglycemic coma 10.3 HBA1 HBA2
33 erythrocytosis, familial, 7 10.3 HBA1 HBA2
34 type 1 diabetes mellitus 7 10.2 HBA1 HBA2
35 osgood-schlatter's disease 10.2 HBB HBD
36 type 1 diabetes mellitus 11 10.2 HBA1 HBA2
37 immature cataract 10.2 HBA1 HBA2
38 kluver-bucy syndrome 10.2 HBB HBD
39 malignant essential hypertension 10.2 HBB HBD
40 glutathione peroxidase deficiency 10.2 HBA1 HBA2 HBB
41 hemoglobinemia 10.2 HBB HP
42 erythema elevatum diutinum 10.2 HBA1 PECAM1
43 hemochromatosis, type 3 10.2 HAMP HFE
44 blind loop syndrome 10.2 HBB HBD
45 capillary hemangioma 10.2 HBA1 PECAM1
46 spherocytosis, type 3 10.2 HBB KLF1
47 pleuropneumonia 10.1 HBB HBD
48 fetal hemoglobin quantitative trait locus 1 10.1 HBB HBD HBG1
49 blood protein disease 10.1 HBB HBD HBG1
50 sea-blue histiocyte disease 10.1 HBB HBE1

Graphical network of the top 20 diseases related to Hemoglobinopathy:



Diseases related to Hemoglobinopathy

Symptoms & Phenotypes for Hemoglobinopathy

UMLS symptoms related to Hemoglobinopathy:


cyanosis

GenomeRNAi Phenotypes related to Hemoglobinopathy according to GeneCards Suite gene sharing:

26 (show all 26)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.91 HBG1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.91 HBE1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.91 HBG1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 9.91 HBA1 HBA2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-193 9.91 HBG1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.91 HBE1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.91 HBG1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-28 9.91 HBG1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.91 HBA1 HBA2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 9.91 HBG1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.91 HBA1 HBA2 HBE1 HBG1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-77 9.91 HBG1
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 9.91 HBG1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.6 PECAM1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.6 HBA1 HBA2 PECAM1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.6 HBA1 HBA2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.6 PECAM1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.6 PECAM1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.6 HBA1 HBA2 PECAM1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.6 PECAM1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.6 PECAM1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.6 HBA1 HBA2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.6 PECAM1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.6 PECAM1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.6 PECAM1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-56 9.6 PECAM1

Drugs & Therapeutics for Hemoglobinopathy

Drugs for Hemoglobinopathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 456)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Peginterferon alfa-2a Approved, Investigational Phase 4,Phase 2 198153-51-4 5360545
2
Peginterferon alfa-2b Approved Phase 4 99210-65-8, 215647-85-1
3
Ribavirin Approved Phase 4,Phase 2 36791-04-5 37542
4
Hydroxyurea Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 127-07-1 3657
5
Iron Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 7439-89-6 23925
6
Deferoxamine Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 70-51-9 2973
7
Deferiprone Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 30652-11-0 2972
8
Basiliximab Approved, Investigational Phase 4 152923-56-3, 179045-86-4
9
Methotrexate Approved Phase 4,Phase 2,Phase 1 59-05-2, 1959-05-2 126941
10
Mycophenolic acid Approved Phase 4,Phase 1,Phase 2,Not Applicable 24280-93-1 446541
11
leucovorin Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 58-05-9 6006 143
12
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 1,Phase 2,Not Applicable,Early Phase 1 22916-47-8 4189
13
Deferasirox Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 201530-41-8 5493381
14
Morphine Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 57-27-2 5288826
15
Zoledronic acid Approved Phase 4,Phase 2,Phase 3,Phase 1 118072-93-8 68740
16
Proguanil Approved Phase 4,Phase 1,Phase 2,Not Applicable 500-92-5 4923
17
Ketamine Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 6740-88-1 3821
18
Guaifenesin Approved, Investigational, Vet_approved Phase 4,Phase 1,Phase 2,Not Applicable 93-14-1 3516
19
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4,Phase 2 437-38-7 3345
20
Zinc Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 7440-66-6
21
Zinc sulfate Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 7733-02-0
22
Amodiaquine Approved, Investigational Phase 4,Phase 1,Phase 2 86-42-0 2165
23
Artemether Approved Phase 4,Not Applicable 71963-77-4 119380 68911
24
Lumefantrine Approved Phase 4,Not Applicable 82186-77-4 6437380
25
Artesunate Approved, Investigational Phase 4,Phase 1,Phase 2 88495-63-0 5464098 6917864
26
Mefloquine Approved, Investigational Phase 4,Phase 1,Phase 2 53230-10-7 4046
27
Hydromorphone Approved, Illicit Phase 4,Phase 3,Phase 2 466-99-9 5284570
28
Sofosbuvir Approved Phase 4,Phase 2 1190307-88-0 45375808
29
Ledipasvir Approved Phase 4,Phase 2 1256388-51-8 67505836
30
Acetaminophen Approved Phase 4,Phase 1,Not Applicable 103-90-2 1983
31
Busulfan Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 55-98-1 2478
32
Cyclophosphamide Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 6055-19-2, 50-18-0 2907
33
Fludarabine Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 75607-67-9, 21679-14-1 30751
34
Tacrolimus Approved, Investigational Phase 4,Phase 1,Phase 2 104987-11-3 445643 439492
35
Pyrimethamine Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2 58-14-0 4993
36
Sulfadoxine Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 2447-57-6 17134
37
Codeine Approved, Illicit Phase 4,Phase 1,Phase 2 76-57-3 5284371
38
Metformin Approved Phase 4,Early Phase 1 657-24-9 14219 4091
39
Ibuprofen Approved Phase 4,Phase 2,Not Applicable 15687-27-1 3672
40
Desogestrel Approved Phase 4 54024-22-5 40973
41
Etonogestrel Approved, Investigational Phase 4 54048-10-1 6917715 40976
42
Ketorolac Approved Phase 4 66635-83-4, 74103-06-3 3826
43
Ergocalciferol Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1 50-14-6 5280793
44
Vitamin D3 Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1 67-97-0 5280795 6221
45
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 1406-16-2
46
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 59-30-3 6037
47
Citric Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 77-92-9 311
48
Piperaquine Experimental, Investigational Phase 4 4085-31-8 5079497
49
Dihydroartemisinin Experimental, Investigational Phase 4 71939-50-9 6918483
50
Heroin Illicit, Investigational Phase 4 561-27-3 5462328

Interventional clinical trials:

(show top 50) (show all 854)
# Name Status NCT ID Phase Drugs
1 Interferon and Ribavirin Treatment in Patients With Hemoglobinopathies Unknown status NCT00887081 Phase 4 PEG-IFN alpha2a or PEG-IFN alpha2b and Ribavirin
2 Mobile-Directly Observed Therapy on Adherence to Hydroxyurea Unknown status NCT02844673 Phase 4 Hydroxyurea
3 B Memory Cell Response to Vaccination With the 13-valent Pneumococcal Conjugate Vaccine in Asplenic Individuals Unknown status NCT01846923 Phase 4
4 The Effect of Vitamin D Supplementation on Calcium Excretion in Thalassemia: a Dose Response Study Unknown status NCT01323608 Phase 4 Vitamin D3;Placebo
5 Combined Chelation Treatment With Deferiprone and Deferoxamine in Thalassemia Major Unknown status NCT00103753 Phase 4 deferiprone
6 Efficacy of Basiliximab in the Prevention of Acute Graft-versus-host Disease in Unrelated Allogeneic Hematopoietic Stem Cell Transplantation Therapy for Thalassemia Major Unknown status NCT02342145 Phase 4 Basiliximab,;cyclosporine A;Methotrexate;Mycophenolate mofetil
7 Magnetic Resonance Imaging (MRI) Assessments of the Heart and Liver Iron Load in Patients With Transfusion Induced Iron Overload Completed NCT00673608 Phase 4 deferasirox
8 Intranasal Fentanyl Versus Intravenous Morphine in the Treatment of Severe Painful Sickle Cell Crises in Children Completed NCT03682211 Phase 4 Fentanyl Citrate;Morphine sulphate
9 Zinc Supplementation on Cellular Immunity in Thalassemia Major Completed NCT03117192 Phase 4 Zinc Sulfate;Sucrose Syrup
10 Rejuvesol® Washed RBC in Sickle Cell Patients Requiring Frequent Transfusions Completed NCT02731157 Phase 4 Rejuvesol
11 Future of Spermatogenesis in Men With Sickle Cell Disease Medically Treated Completed NCT01609192 Phase 4 Hydrea® (hydroxyurea )
12 Tracking Resistance to Artemisinin (TRAC) Completed NCT01350856 Phase 4 Artesunate 2;Artesunate 4
13 Intranasal Fentanyl for Initial Treatment of a Vaso-occlusive Crisis Completed NCT01482091 Phase 4 Fentanyl Citrate;Normal Saline
14 Efficacy Study of the Use of Sequential DFP-DFO Versus DFP Completed NCT00733811 Phase 4 Deferiprone (DFP) and Deferoxamine (DFO);Deferiprone (DFP)
15 Evaluation of Efficacy of Zoledronic Acid in Patients With Haemoglobin Syndromes (Thalassemia and Sicle Cell Anaemia) and Risk of Skeletal Events Completed NCT00346242 Phase 4 Zoledronic Acid
16 Pneumococcal Vaccination for Splenectomised Thalassemia Major Patients in Indonesia Completed NCT03095326 Phase 4 Sucrose
17 Evaluation of the Impact of Renal Function on the Pharmacokinetics of SIKLOS ® (DARH) Completed NCT02522104 Phase 4 Siklos
18 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)
19 Sofosbuvir/Ledipasvir for Hepatitis C Genotype 1-6 in Patients With Transfusion-Dependent Thalassemia: An Open Label Trial Completed NCT03032666 Phase 4 sofosbuvir/velpatasvir
20 An Epidemiological Study to Assess Iron Overload Using MRI in Patients With Transfusional Siderosis (TIMES Study) Completed NCT01736540 Phase 4
21 Post Hematopoietic Stem Cell Transplantation Completed NCT01610297 Phase 4 ICL670
22 Combo Chelation Trial Completed NCT00901199 Phase 4 Combo Chelation with Deferasirox (Exjade) and Desferal (DFO)
23 Pilot Study for Patients With Poor Response to Deferasirox Completed NCT00749515 Phase 4 Deferoxamine;Deferasirox
24 This Study Will Evaluate Efficacy and Safety of Deferasirox in Patients With Myelodysplastic Syndromes (MDS), Thalassemia and Rare Anemia Types Having Transfusion-induced Iron Overload. Completed NCT01250951 Phase 4 Deferasirox
25 Intensive Combined Chelation Therapy for Iron-Induced Cardiac Disease in Patients With Thalassemia Major Completed NCT00800761 Phase 4 Deferoxamine and Deferiprone;Deferoxamine
26 Pegasys® Plus Ribavirin in Thalassemic Patients With Hepatitis C Virus Infection Completed NCT00707850 Phase 4 PEGASYS® (Peginterferon Alfa-2a (40KD)) Plus COPEGUS® (Ribavirin)
27 Extension Study of the Efficacy and Safety of Deferasirox Treatment in Beta-thalassemia Patients With Transfusional Hemosiderosis (Study Amended to 2-year Duration) Completed NCT00171301 Phase 4 Deferasirox
28 Efficacy Study in Removing Excess Iron From the Heart Completed NCT00105495 Phase 4 Ferriprox (deferiprone);Desferal (deferoxamine)
29 Evaluating the Efficacy of Deferasirox in Transfusion Dependent Chronic Anaemias (Myelodysplastic Syndrome, Beta-thalassaemia Patients) With Chronic Iron Overload Completed NCT00564941 Phase 4 deferasirox
30 Colla Corii Asini Treating Anemia in Pregnant Women With Thalassemia(Presenting the Syndrome of Blood Deficiency) Recruiting NCT03374111 Phase 4 Colla corii asini;a Simulate Agent of Colla corii asini granule
31 Does IV Acetaminophen Reduce Opioid Requirement in Pediatric Patients With Acute Sickle Cell Crises? Recruiting NCT03541980 Phase 4 Acetaminophen;Normal saline
32 Study on the Mechanism of Colla Corri Asini in the Treatment of Thalassemia Patients With Pregnancy Anemia Recruiting NCT03392298 Phase 4 Colla corii asini
33 Haploidentical Hematopoietic Stem Cell Transplantation for Patients With Thalassemia Major Recruiting NCT03171831 Phase 4 Busulfan;Cyclophosphamide;Fludarabine;Mycophenolate mofetil;Tacrolimus;Methotrexate;Thymoglobulin;Basiliximab
34 The Potential Hepatoprotective Effect of Metformin in Patients With Beta Thalassemia Major Recruiting NCT02984475 Phase 4 Metformin
35 Safety and Efficacy of Early Treatment With Deferiprone in Infants and Young Children Recruiting NCT03591575 Phase 4 Deferiprone oral solution;Placebo
36 Efficacy and Safety of Ferriprox® in Patients With Sickle Cell Disease or Other Anemias Recruiting NCT02041299 Phase 4 Deferiprone;Deferoxamine
37 L-arginine Versus Sildenafil in Children With Beta Thalassemia Associated With Pulmonary Hypertension Recruiting NCT03402191 Phase 4 L-arginine;Sildenafil
38 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)
39 Contraception in Women With Sickle Cell Disease Active, not recruiting NCT02594462 Phase 4 etonogestrel-releasing implant contraceptive
40 Risk Clinical Stratification of Sickle Cell Disease in Nigeria, Assessment of Efficacy/Safety of Hydroxyurea Treatment Active, not recruiting NCT02149537 Phase 4 hydroxyurea
41 Efficacy and Safety Study of Deferasirox in Patients With Non-transfusion Dependent Thalassemia Active, not recruiting NCT01709838 Phase 4 ICL670 deferasirox
42 Long-term Safety and Efficacy of Ferriprox® in Iron Overloaded Patients With Sickle Cell Disease or Other Anemias Enrolling by invitation NCT02443545 Phase 4 Deferiprone
43 A Randomized Phase IV Control Trial of Single High Dose Oral Vitamin D3 in Pediatric Patients Undergoing HSCT Enrolling by invitation NCT03176849 Phase 4
44 Ketorolac Versus Ibuprofen to Treat Painful Episodes of Sickle Cell Disease Terminated NCT00115336 Phase 4 Intravenous Ketorolac;Ibuprofen
45 Ibuprofen and Opioid (Morphine or Diamorphine) for Acute Pain in Sickle Cell Disease - Sickle With Ibuprofen & Morphine Terminated NCT00880373 Phase 4 Ibuprofen;Placebo;Diamorphine or Morphine
46 Immunogenicity and Safety Study of Pneumococcal 7-Valent Conjugate Vaccine in Sickle Cell Disease Infants. Terminated NCT00368186 Phase 4
47 Pilot Study on the Effects of Intravenous Ketamine on Acute Pain Crisis in Patients With Sickle Cell Disease Terminated NCT00252122 Phase 4 Ketamine
48 Endothelial Function in Patients With Sickle Cell Anemia Before and After Sildenafil Withdrawn NCT00937144 Phase 4 Viagra (Sildenafil);placebo
49 Effect of Deferasirox on Endocrine Complications in Subjects With Transfusion Dependent Thalassemia Withdrawn NCT02069886 Phase 4 deferasirox
50 An Open Label Study to Evaluate the Pharmacokinetics, Safety, Tolerability and Efficacy of Deferasirox Administered to Chinese Patients With β-thalassemia Major Aged From 2 to Less Than 6 Years Old Withdrawn NCT01724138 Phase 4 Deferasirox

Search NIH Clinical Center for Hemoglobinopathy

Cochrane evidence based reviews: hemoglobinopathies

Genetic Tests for Hemoglobinopathy

Genetic tests related to Hemoglobinopathy:

# Genetic test Affiliating Genes
1 Hemoglobinopathy 29

Anatomical Context for Hemoglobinopathy

MalaCards organs/tissues related to Hemoglobinopathy:

41
Bone, Bone Marrow, Testes, Liver, T Cells, Lung, Heart

Publications for Hemoglobinopathy

Articles related to Hemoglobinopathy:

(show top 50) (show all 1100)
# Title Authors Year
1
Coinheritance of Sicilian (I'I^)<sup>0</sup>-Thalassemia and Two Rare Hemoglobin Variants: A Complex Case of Hemoglobinopathy. ( 29651217 )
2018
2
The Effect of ABO Blood Groups, Hemoglobinopathy, and Heme Oxygenase-1 Polymorphisms on Malaria Susceptibility and Severity. ( 29742871 )
2018
3
Mutation Screening of the KrA1ppel-like Factor 1 Gene in Individuals With Increased Fetal Hemoglobin Referred for Hemoglobinopathy Investigation in South of Iran. ( 29420372 )
2018
4
Distribution of hemoglobinopathy disorders in Saudi Arabia based on data from the premarital screening and genetic counseling program, 2011-2015. ( 29801592 )
2018
5
An Observational Study of the Effect of Hemoglobinopathy, Alpha Thalassemia and Hemoglobin E on <i>P. Vivax</i> Parasitemia. ( 29531652 )
2018
6
Late Effects Screening Guidelines after Hematopoietic Cell Transplantation (HCT) for Hemoglobinopathy: Consensus Statement from the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects after Pediatric HCT. ( 29653206 )
2018
7
Correction: Transfusion-Transmitted Plasmodium falciparum in a Patient With Sickle Cell Hemoglobinopathy. ( 29971421 )
2018
8
Transfusion-Transmitted Plasmodium falciparum in a Patient With Sickle Cell Hemoglobinopathy. ( 29801034 )
2018
9
Fat Embolism Syndrome due to Bone Marrow Necrosis in Patients with Hemoglobinopathies: A Life-threatening Complication Mimicking Thrombotic Thrombocytopenic Purpura. ( 30479040 )
2018
10
Pregnancy Complications in a-Thalassemia (Hemoglobinopathy H): A Case Study. ( 29992068 )
2018
11
Outcome of Pregnancy with Hemoglobinopathy in a Tertiary Care Center. ( 30224845 )
2018
12
An unusual hemoglobinopathy: compound heterozygosity for hemoglobins C and E. ( 30295337 )
2018
13
Unexpected discovery of hemoglobinopathy C/β° thalassemia. ( 30455903 )
2018
14
How I treat hypoxia in adults with hemoglobinopathies and hemolytic disorders. ( 30206115 )
2018
15
Thalassemia and other hemoglobinopathies among anemic individuals in Metro Manila, Philippines and their intake of iron supplements. ( 29737797 )
2018
16
A Model Linking Sickle Cell Hemoglobinopathies and SMARCB1 Loss in Renal Medullary Carcinoma. ( 29440190 )
2018
17
The presence of F cells with a fetal phenotype in adults with hemoglobinopathies limits the utility of flow cytometry for quantitation of fetomaternal hemorrhage. ( 29072803 )
2018
18
Approaches for Analysis of Erythroid Cell Parameters and Hemoglobinopathies in Mouse Models. ( 29076086 )
2018
19
Ex Vivo Selection of Transduced Hematopoietic Stem Cells for Gene Therapy of β-Hemoglobinopathies. ( 29221807 )
2018
20
Design and implementation of a novel advanced training curriculum in hemoglobinopathies. ( 29226350 )
2018
21
A Nonhuman Primate Transplantation Model to Evaluate Hematopoietic Stem Cell Gene Editing Strategies for β-Hemoglobinopathies. ( 29276718 )
2018
22
Fetal aneuploidy diagnosed at celocentesis for early prenatal diagnosis of congenital hemoglobinopathies. ( 29292496 )
2018
23
Rapid and Sensitive Assessment of Globin Chains for Gene and Cell Therapy of Hemoglobinopathies. ( 29325430 )
2018
24
Gene therapy and gene editing strategies for hemoglobinopathies. ( 29336892 )
2018
25
Artemisinin Therapy for Malaria in Hemoglobinopathies: A Systematic Review. ( 29370347 )
2018
26
Prevalence of hemoglobin variants and hemoglobinopathies using cation-exchange high-performance liquid chromatography in central reference laboratory of India: A report of 65779 cases. ( 29403210 )
2018
27
Newborn Screening for Hemoglobinopathies and Red Cell Enzymopathies in Tripura State: A Malaria-Endemic State in Northeast India. ( 29417859 )
2018
28
Recent advance on genome editing for therapy of β-hemoglobinopathies. ( 29428902 )
2018
29
Haploidentical HSCT for hemoglobinopathies: improved outcomes with TCRαβ+/CD19+-depleted grafts. ( 29431621 )
2018
30
Red blood cell specifications for patients with hemoglobinopathies: a systematic review and guideline. ( 29697146 )
2018
31
Prenatal and preimplantation diagnosis of hemoglobinopathies. ( 29741247 )
2018
32
Population Screening for Hemoglobinopathies. ( 29751732 )
2018
33
Integrating HDAd5/35++ Vectors as a New Platform for HSC Gene Therapy of Hemoglobinopathies. ( 29766024 )
2018
34
Vertebral Bone Density Measurements by DXA are Influenced by Hepatic Iron Overload in Patients with Hemoglobinopathies. ( 30122533 )
2018
35
Newborn Screening for Hemoglobinopathies in Rhode Island, 2017. ( 30189698 )
2018
36
Hemoglobinopathies. ( 30193516 )
2018
37
National registry of hemoglobinopathies in Greece: updated demographics, current trends in affected births, and causes of mortality. ( 30196444 )
2018
38
Gene Therapy for Hemoglobinopathies. ( 30200783 )
2018
39
Robust erythroid differentiation system for rhesus hematopoietic progenitor cells allowing preclinical screening of genetic treatment strategies for the hemoglobinopathies. ( 30249524 )
2018
40
Wake-up Sleepy Gene: Reactivating Fetal Globin for β-Hemoglobinopathies. ( 30287096 )
2018
41
Hemoglobinopathies in the Fetal Position. ( 30354961 )
2018
42
Molecular analysis of hemoglobinopathies in a large ethnic Hakka population in southern China. ( 30407298 )
2018
43
The phenotypic and molecular diversity of hemoglobinopathies in India: A review of 15 years at a referral center. ( 30489691 )
2018
44
Knowledge and attitude toward hemoglobinopathies premarital screening program among unmarried population in western Saudi Arabia. ( 30520505 )
2018
45
Low affinity hemoglobinopathy (Hb Vigo) due to a new mutation of beta globin gene (c200 A&amp;gt;T; Lys&amp;gt;Ile). A cause of rare anemia misdiagnosis. ( 28066926 )
2017
46
Evaluation of four hemoglobin separation analyzers for hemoglobinopathy diagnosis. ( 28383138 )
2017
47
Whole transcriptome analysis of human erythropoietic cells during ontogenesis suggests a role of VEGFA gene as modulator of fetal hemoglobin and pharmacogenomic biomarker of treatment response to hydroxyurea in I^-type hemoglobinopathy patients. ( 29061162 )
2017
48
European migration crises: The role of national hemoglobinopathy registries in improving patient access to care. ( 28371007 )
2017
49
Hemoglobin Titusville: a rare low oxygen affinity hemoglobinopathy. ( 28588857 )
2017
50
Bilateral simultaneous macular infarction with spontaneous visual recovery in genotype ss hemoglobinopathy patient. ( 29379002 )
2017

Variations for Hemoglobinopathy

ClinVar genetic disease variations for Hemoglobinopathy:

6 (show all 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 HBB NM_000518.4(HBB): c.127_129delTTT (p.Phe43del) deletion Pathogenic rs41417446 GRCh37 Chromosome 11, 5247993: 5247995
2 HBB NM_000518.4(HBB): c.127_129delTTT (p.Phe43del) deletion Pathogenic rs41417446 GRCh38 Chromosome 11, 5226763: 5226765
3 HBB NM_000518.4(HBB): c.257T> C (p.Phe86Ser) single nucleotide variant Pathogenic rs35693898 GRCh37 Chromosome 11, 5247865: 5247865
4 HBB NM_000518.4(HBB): c.257T> C (p.Phe86Ser) single nucleotide variant Pathogenic rs35693898 GRCh38 Chromosome 11, 5226635: 5226635
5 HBB NM_000518.4(HBB): c.70_72delGTT (p.Val24del) deletion Pathogenic rs34160180 GRCh37 Chromosome 11, 5248180: 5248182
6 HBB NM_000518.4(HBB): c.70_72delGTT (p.Val24del) deletion Pathogenic rs34160180 GRCh38 Chromosome 11, 5226950: 5226952
7 HBB NM_000518.4(HBB): c.199A> G (p.Lys67Glu) single nucleotide variant Pathogenic rs34165323 GRCh37 Chromosome 11, 5247923: 5247923
8 HBB NM_000518.4(HBB): c.199A> G (p.Lys67Glu) single nucleotide variant Pathogenic rs34165323 GRCh38 Chromosome 11, 5226693: 5226693
9 HBB NM_000518.4(HBB): c.295G> A (p.Val99Met) single nucleotide variant Pathogenic rs33933298 GRCh37 Chromosome 11, 5247827: 5247827
10 HBB NM_000518.4(HBB): c.295G> A (p.Val99Met) single nucleotide variant Pathogenic rs33933298 GRCh38 Chromosome 11, 5226597: 5226597
11 HBB NM_000518.4(HBB): c.404T> A (p.Val135Glu) single nucleotide variant Pathogenic rs33966761 GRCh37 Chromosome 11, 5246868: 5246868
12 HBB NM_000518.4(HBB): c.404T> A (p.Val135Glu) single nucleotide variant Pathogenic rs33966761 GRCh38 Chromosome 11, 5225638: 5225638
13 HBB NM_000518.4(HBB): c.176C> G (p.Pro59Arg) single nucleotide variant Pathogenic rs33991472 GRCh37 Chromosome 11, 5247946: 5247946
14 HBB NM_000518.4(HBB): c.176C> G (p.Pro59Arg) single nucleotide variant Pathogenic rs33991472 GRCh38 Chromosome 11, 5226716: 5226716
15 HBB NM_000518.4(HBB): c.51delC (p.Lys18Argfs) deletion Pathogenic rs35662066 GRCh37 Chromosome 11, 5248201: 5248201
16 HBB NM_000518.4(HBB): c.51delC (p.Lys18Argfs) deletion Pathogenic rs35662066 GRCh38 Chromosome 11, 5226971: 5226971
17 HBB NM_000518.4(HBB): c.380T> G (p.Val127Gly) single nucleotide variant Pathogenic rs33925391 GRCh37 Chromosome 11, 5246892: 5246892
18 HBB NM_000518.4(HBB): c.380T> G (p.Val127Gly) single nucleotide variant Pathogenic rs33925391 GRCh38 Chromosome 11, 5225662: 5225662
19 HBB NM_000518.4(HBB): c.277C> A (p.His93Asn) single nucleotide variant Pathogenic rs33924775 GRCh37 Chromosome 11, 5247845: 5247845
20 HBB NM_000518.4(HBB): c.277C> A (p.His93Asn) single nucleotide variant Pathogenic rs33924775 GRCh38 Chromosome 11, 5226615: 5226615
21 HBB NM_000518.4(HBB): c.347C> A (p.Ala116Asp) single nucleotide variant Pathogenic rs35485099 GRCh37 Chromosome 11, 5246925: 5246925
22 HBB NM_000518.4(HBB): c.347C> A (p.Ala116Asp) single nucleotide variant Pathogenic rs35485099 GRCh38 Chromosome 11, 5225695: 5225695

Expression for Hemoglobinopathy

Search GEO for disease gene expression data for Hemoglobinopathy.

Pathways for Hemoglobinopathy

GO Terms for Hemoglobinopathy

Cellular components related to Hemoglobinopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.97 EPO HAMP HBA1 HBA2 HBB HFE
2 blood microparticle GO:0072562 9.7 HBA1 HBA2 HBB HBD HBE1 HP
3 endocytic vesicle lumen GO:0071682 9.56 HBA1 HBA2 HBB HP
4 hemoglobin complex GO:0005833 9.43 HBA1 HBA2 HBB HBD HBE1 HBG1
5 basal part of cell GO:0045178 9.4 HFE TF
6 HFE-transferrin receptor complex GO:1990712 9.37 HFE TF
7 haptoglobin-hemoglobin complex GO:0031838 9.17 HBA1 HBA2 HBB HBD HBE1 HBG1

Biological processes related to Hemoglobinopathy according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 receptor-mediated endocytosis GO:0006898 9.81 HBA1 HBA2 HBB HP
2 blood coagulation GO:0007596 9.8 HBB HBD HBE1 HBG1
3 protein heterooligomerization GO:0051291 9.73 HBA1 HBA2 HBB HBD HBE1 HBG1
4 acute-phase response GO:0006953 9.72 EPO HAMP HFE HP UGT1A1
5 response to hydrogen peroxide GO:0042542 9.71 HBA1 HBA2 HBB HP
6 cellular iron ion homeostasis GO:0006879 9.7 HAMP HFE TF
7 cellular oxidant detoxification GO:0098869 9.7 HBA1 HBA2 HBB HBD HBE1 HBG1
8 positive regulation of cell death GO:0010942 9.67 HBA1 HBA2 HBB HP
9 bicarbonate transport GO:0015701 9.65 HBA1 HBA2 HBB
10 positive regulation of receptor-mediated endocytosis GO:0048260 9.58 HFE TF
11 response to vitamin A GO:0033189 9.58 EPO HAMP
12 response to iron ion GO:0010039 9.57 HAMP HFE
13 cellular response to peptide GO:1901653 9.56 KLF1 KLF10
14 multicellular organismal iron ion homeostasis GO:0060586 9.55 HAMP HFE
15 cellular response to iron ion GO:0071281 9.54 HFE TF
16 regulation of iron ion import GO:1900390 9.46 HFE TF
17 response to iron ion starvation GO:1990641 9.43 HAMP HFE
18 hydrogen peroxide catabolic process GO:0042744 9.43 HBA1 HBA2 HBB HBD HBE1 HBG1
19 oxygen transport GO:0015671 9.1 HBA1 HBA2 HBB HBD HBE1 HBG1

Molecular functions related to Hemoglobinopathy according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 9.85 HBA1 HBA2 HBB HBD HBE1 HBG1
2 oxygen binding GO:0019825 9.8 HBA1 HBA2 HBB HBD HBE1 HBG1
3 peroxidase activity GO:0004601 9.73 HBA1 HBA2 HBB HBD HBE1 HBG1
4 oxygen carrier activity GO:0005344 9.63 HBA1 HBA2 HBB HBD HBE1 HBG1
5 hemoglobin alpha binding GO:0031721 9.58 HBB HBD HBE1
6 transferrin receptor binding GO:1990459 9.46 HFE TF
7 hemoglobin binding GO:0030492 9.43 HBB HP
8 haptoglobin binding GO:0031720 9.43 HBA1 HBA2 HBB HBD HBE1 HBG1
9 organic acid binding GO:0043177 9.1 HBA1 HBA2 HBB HBD HBE1 HBG1
10 protein binding GO:0005515 10.31 EPO HBA1 HBA2 HBB HBD HBE1
11 metal ion binding GO:0046872 10.13 HBA1 HBA2 HBB HBD HBE1 HBG1

Sources for Hemoglobinopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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