Aliases & Classifications for Hemoglobinopathy

MalaCards integrated aliases for Hemoglobinopathy:

Name: Hemoglobinopathy 12 72 49 28 14
Hemoglobinopathies 12 51 3 41 69

Classifications:



External Ids:

Disease Ontology 12 DOID:2860
ICD10 32 D58.2
MeSH 41 D006453
NCIt 46 C3092
UMLS 69 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 heinz body anemias and methemoglobinemia, beta-globin type, and has symptoms including cyanosis An important gene associated with Hemoglobinopathy is HBB (Hemoglobin Subunit Beta), and among its related pathways/superpathways are Factors involved in megakaryocyte development and platelet production and Binding and Uptake of Ligands by Scavenger Receptors. 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 kidney, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Wikipedia : 72 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 132)
# Related Disease Score Top Affiliating Genes
1 heinz body anemias 32.4 HBA1 HBA2 HBB
2 methemoglobinemia, beta-globin type 32.2 HBA1 HBA2 HBB
3 hydrops fetalis 30.5 HBA1 HBA2
4 hemoglobin c disease 30.4 HBB HBD
5 glucosephosphate dehydrogenase deficiency 29.9 HBB HP UGT1A1
6 hemolytic anemia 29.7 HBA2 HBB HP
7 iron metabolism disease 29.2 EPO HFE TF
8 hemosiderosis 28.7 EPO HAMP HFE TF
9 iron deficiency anemia 28.7 EPO HAMP HFE TF
10 sickle cell disease 28.7 EPO HBA2 HBB HBD HBG1 UGT1A1
11 sickle cell anemia 28.5 EPO HBA1 HBA2 HBB HBG1 UGT1A1
12 thalassemia 28.1 EPO HBA1 HBA2 HBB HBD HBG1
13 alpha-thalassemia 28.0 EPO HBA1 HBA2 HBB HBG1 HP
14 deficiency anemia 27.5 EPO HAMP HBA2 HBB HFE HP
15 malaria 27.2 EPO HAMP HBA1 HBA2 HBB HP
16 congenital hemolytic anemia 26.7 EPO HBA2 HBB HBD HBG1 HP
17 beta-thalassemia 26.6 EPO HAMP HBA1 HBA2 HBB HBD
18 hemoglobinopathy toms river 11.9
19 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema 10.9
20 familial avascular necrosis of the femoral head 10.9
21 hemoglobin lepore-beta-thalassemia syndrome 10.5 HBB HBD
22 alpha-thalassemia/mental retardation syndrome, chromosome 16-related 10.5 HBA1 HBA2
23 hydrops fetalis, nonimmune 10.5 HBA1 HBA2
24 hemoglobin d disease 10.5 HBB HBD
25 diabetes mellitus, insulin-dependent, 24 10.5 HBA1 HBA2
26 malignant secondary hypertension 10.5 HBB HBD
27 hemoglobin e disease 10.5 HBB HBD
28 type 1 diabetes mellitus 7 10.5 HBA1 HBA2
29 osgood-schlatter's disease 10.5 HBB HBD
30 type 1 diabetes mellitus 11 10.5 HBA1 HBA2
31 immature cataract 10.5 HBA1 HBA2
32 kluver-bucy syndrome 10.4 HBB HBD
33 immune hydrops fetalis 10.4 HBA1 HBA2
34 malignant essential hypertension 10.4 HBB HBD
35 glutathione peroxidase deficiency 10.4 HBA1 HBA2 HBB
36 capillary hemangioma 10.3 HBA1 PECAM1
37 hemochromatosis type 2 10.3 HAMP HFE
38 liver angiosarcoma 10.3 HBA1 UGT1A1
39 hemoglobinemia 10.3 HBB HP
40 senile angioma 10.3 HBA1 TF
41 iron overload in africa 10.2 HFE TF
42 pleuropneumonia 10.2 HBB HBD
43 fetal hemoglobin quantitative trait locus 1 10.2 HBB HBD HBG1
44 hyperferritinemia with or without cataract 10.2 HFE TF
45 angiomatous meningioma 10.2 HBA1 TF
46 spherocytosis, type 2 10.2 HBB KLF1
47 autosomal genetic disease 10.2 HBB HBD HBG1
48 hypochromic microcytic anemia 10.2 HBA2 HBB TF
49 radiation proctitis 10.1 PECAM1 TF
50 rubeosis iridis 10.1 HBA2 HBB

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:

25 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.6 PECAM1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.6 HBA1 HBA2 PECAM1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.6 HBA1 HBA2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.6 PECAM1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.6 PECAM1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.6 HBA1 HBA2 PECAM1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.6 PECAM1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.6 PECAM1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.6 HBA1 HBA2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.6 PECAM1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.6 PECAM1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.6 PECAM1
13 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 434)
# 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 215647-85-1, 99210-65-8
3
Ribavirin Approved Phase 4,Phase 2 36791-04-5 37542
4
Deferiprone Approved Phase 4,Phase 2,Phase 3,Phase 1 30652-11-0 2972
5
Deferoxamine Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 70-51-9 2973
6
Iron Approved Phase 4,Phase 2,Phase 3,Phase 1 7439-89-6 23925
7
Deferasirox Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 201530-41-8 5493381
8
Hydroxyurea Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 127-07-1 3657
9
Zoledronic acid Approved Phase 4,Phase 2,Phase 3,Phase 1 118072-93-8 68740
10
Fludarabine Approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 21679-14-1, 75607-67-9 30751
11
Proguanil Approved Phase 4,Phase 1,Phase 2 500-92-5 4923
12
Zinc Approved, Investigational Phase 4,Phase 2,Phase 1 7440-66-6 32051 23994
13 Zinc sulfate Approved, Investigational Phase 4,Phase 2,Phase 1 7733-02-0
14
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4,Phase 2 437-38-7 3345
15
Hydromorphone Approved, Illicit Phase 4,Phase 3,Phase 2 466-99-9 5284570
16
Morphine Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 57-27-2 5288826
17
Busulfan Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 55-98-1 2478
18
Cyclophosphamide Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 50-18-0, 6055-19-2 2907
19
Methotrexate Approved Phase 4,Phase 2,Phase 1 1959-05-2, 59-05-2 126941
20
Mycophenolate mofetil Approved, Investigational Phase 4,Phase 2,Phase 1 128794-94-5 5281078
21
Mycophenolic acid Approved Phase 4,Phase 2,Phase 1 24280-93-1 446541
22
Tacrolimus Approved, Investigational Phase 4,Phase 2,Phase 1 104987-11-3 445643 439492
23
Amodiaquine Approved, Investigational Phase 4,Phase 1,Phase 2 86-42-0 2165
24
Pyrimethamine Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2 58-14-0 4993
25
Sulfadoxine Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 2447-57-6 17134
26
Ledipasvir Approved Phase 4,Phase 2 1256388-51-8 67505836
27
Sofosbuvir Approved Phase 4,Phase 2 1190307-88-0 45375808
28
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 1,Early Phase 1 22916-47-8 4189
29
Codeine Approved, Illicit Phase 4,Phase 1,Phase 2 76-57-3 5284371
30
Guaifenesin Approved, Investigational, Vet_approved Phase 4,Phase 1,Phase 2 93-14-1 3516
31
Basiliximab Approved, Investigational Phase 4 179045-86-4, 152923-56-3
32
Metformin Approved Phase 4,Early Phase 1 657-24-9 4091 14219
33
Ibuprofen Approved Phase 4,Phase 2 15687-27-1 3672
34
Ketamine Approved, Vet_approved Phase 4,Phase 3,Phase 2 6740-88-1 3821
35
Desogestrel Approved Phase 4 54024-22-5 40973
36
Etonogestrel Approved, Investigational Phase 4 54048-10-1 6917715 40976
37
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
38
Heroin Approved, Illicit, Investigational Phase 4 561-27-3 5462328
39
Cholecalciferol Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1 67-97-0 10883523 5280795 6221
40
Ergocalciferol Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1 50-14-6 5280793
41
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 1406-16-2
42
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 59-30-3 6037
43
leucovorin Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1 58-05-9 143 6006
44
Citric Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 77-92-9 311
45 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
46 Antimetabolites Phase 4,Phase 2,Phase 3,Phase 1
47 Antiviral Agents Phase 4,Phase 3,Phase 2,Phase 1
48 Interferon-alpha Phase 4,Phase 2
49 interferons Phase 4,Phase 2
50 Heptavalent Pneumococcal Conjugate Vaccine Phase 4,Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 773)

# 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 B Memory Cell Response to Vaccination With the 13-valent Pneumococcal Conjugate Vaccine in Asplenic Individuals Unknown status NCT01846923 Phase 4
3 The Effect of Vitamin D Supplementation on Calcium Excretion in Thalassemia: a Dose Response Study Unknown status NCT01323608 Phase 4 Vitamin D3;Placebo
4 Combined Chelation Treatment With Deferiprone and Deferoxamine in Thalassemia Major Unknown status NCT00103753 Phase 4 deferiprone
5 Magnetic Resonance Imaging (MRI) Assessments of the Heart and Liver Iron Load in Patients With Transfusion Induced Iron Overload Completed NCT00673608 Phase 4 deferasirox
6 Zinc Supplementation on Cellular Immunity in Thalassemia Major Completed NCT03117192 Phase 4 Zinc Sulfate;Sucrose Syrup
7 Future of Spermatogenesis in Men With Sickle Cell Disease Medically Treated Completed NCT01609192 Phase 4 Hydrea® (hydroxyurea )
8 Intranasal Fentanyl for Initial Treatment of a Vaso-occlusive Crisis Completed NCT01482091 Phase 4 Fentanyl Citrate;Normal Saline
9 Efficacy Study of the Use of Sequential DFP-DFO Versus DFP Completed NCT00733811 Phase 4 Deferiprone (DFP) and Deferoxamine (DFO);Deferiprone (DFP)
10 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
11 Pneumococcal Vaccination for Splenectomised Thalassemia Major Patients in Indonesia Completed NCT03095326 Phase 4 Sucrose
12 Evaluation of the Impact of Renal Function on the Pharmacokinetics of SIKLOS ® (DARH) Completed NCT02522104 Phase 4 Siklos
13 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)
14 An Epidemiological Study to Assess Iron Overload Using MRI in Patients With Transfusional Siderosis (TIMES Study) Completed NCT01736540 Phase 4
15 Post Hematopoietic Stem Cell Transplantation Completed NCT01610297 Phase 4 ICL670
16 Combo Chelation Trial Completed NCT00901199 Phase 4 Combo Chelation with Deferasirox (Exjade) and Desferal (DFO)
17 Pilot Study for Patients With Poor Response to Deferasirox Completed NCT00749515 Phase 4 Deferoxamine;Deferasirox
18 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
19 Intensive Combined Chelation Therapy for Iron-Induced Cardiac Disease in Patients With Thalassemia Major Completed NCT00800761 Phase 4 Deferoxamine and Deferiprone;Deferoxamine
20 Pegasys® Plus Ribavirin in Thalassemic Patients With Hepatitis C Virus Infection Completed NCT00707850 Phase 4 PEGASYS® (Peginterferon Alfa-2a (40KD)) Plus COPEGUS® (Ribavirin)
21 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
22 Evaluating the Efficacy of Deferasirox in Transfusion Dependent Chronic Anaemias (Myelodysplastic Syndrome, Beta-thalassaemia Patients) With Chronic Iron Overload Completed NCT00564941 Phase 4 deferasirox
23 Efficacy Study in Removing Excess Iron From the Heart Completed NCT00105495 Phase 4 Ferriprox (deferiprone);Desferal (deferoxamine)
24 Study on the Mechanism of Colla Corri Asini in the Treatment of Thalassemia Patients With Pregnancy Anemia Recruiting NCT03392298 Phase 4 Colla corii asini
25 Haploidentical Hematopoietic Stem Cell Transplantation for Patients With Thalassemia Major Recruiting NCT03171831 Phase 4 Busulfan;Cyclophosphamide;Fludarabine;Mycophenolate mofetil;Tacrolimus;Methotrexate;Thymoglobulin;Basiliximab
26 The Potential Hepatoprotective Effect of Metformin in Patients With Beta Thalassemia Major Recruiting NCT02984475 Phase 4 Metformin
27 Rejuvesol® Washed RBC in Sickle Cell Patients Requiring Frequent Transfusions Recruiting NCT02731157 Phase 4 Rejuvesol
28 Efficacy and Safety of Ferriprox® in Patients With Sickle Cell Disease or Other Anemias Recruiting NCT02041299 Phase 4 Deferiprone;Deferoxamine
29 L-arginine Versus Sildenafil in Children With Beta Thalassemia Associated With Pulmonary Hypertension Recruiting NCT03402191 Phase 4 L-arginine;Sildenafil
30 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)
31 Sofosbuvir/Ledipasvir for Hepatitis C Genotype 1-6 in Patients With Transfusion-Dependent Thalassemia: An Open Label Trial Recruiting NCT03032666 Phase 4 sofosbuvir/velpatasvir
32 Efficacy of Basiliximab in the Prevention of Acute Graft-versus-host Disease in Unrelated Allogeneic Hematopoietic Stem Cell Transplantation Therapy for Thalassemia Major Recruiting NCT02342145 Phase 4 Basiliximab,;cyclosporine A;Methotrexate;Mycophenolate mofetil
33 Contraception in Women With Sickle Cell Disease Active, not recruiting NCT02594462 Phase 4 etonogestrel-releasing implant contraceptive
34 Risk Clinical Stratification of Sickle Cell Disease in Nigeria, Assessment of Efficacy/Safety of Hydroxyurea Treatment Active, not recruiting NCT02149537 Phase 4 hydroxyurea
35 Efficacy and Safety Study of Deferasirox in Patients With Non-transfusion Dependent Thalassemia Active, not recruiting NCT01709838 Phase 4 ICL670 deferasirox
36 Mobile-Directly Observed Therapy on Adherence to Hydroxyurea Enrolling by invitation NCT02844673 Phase 4 Hydroxyurea
37 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
38 Colla Corii Asini Treating Anemia in Pregnant Women With Thalassemia(Presenting the Syndrome of Blood Deficiency) Not yet recruiting NCT03374111 Phase 4 Colla corii asini;a Simulate Agent of Colla corii asini granule
39 A Randomized Phase IV Control Trial of Single High Dose Oral Vitamin D3 in Pediatric Patients Undergoing HSCT Not yet recruiting NCT03176849 Phase 4
40 Ketorolac Versus Ibuprofen to Treat Painful Episodes of Sickle Cell Disease Terminated NCT00115336 Phase 4 Intravenous Ketorolac;Ibuprofen
41 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
42 Immunogenicity and Safety Study of Pneumococcal 7-Valent Conjugate Vaccine in Sickle Cell Disease Infants. Terminated NCT00368186 Phase 4
43 Pilot Study on the Effects of Intravenous Ketamine on Acute Pain Crisis in Patients With Sickle Cell Disease Terminated NCT00252122 Phase 4 Ketamine
44 Endothelial Function in Patients With Sickle Cell Anemia Before and After Sildenafil Withdrawn NCT00937144 Phase 4 Viagra (Sildenafil);placebo
45 Effect of Deferasirox on Endocrine Complications in Subjects With Transfusion Dependent Thalassemia Withdrawn NCT02069886 Phase 4 deferasirox
46 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
47 Assessment of Opioid Analgesia in Sickle Cell Withdrawn NCT00513864 Phase 4 Dextromethorphan;Codeine;Morphine
48 Long-Term Effects of Hydroxyurea in Children With Sickle Cell Anemia (The BABY HUG Follow-up Study) Unknown status NCT00890396 Phase 3
49 An Algorithm to Start Iron Chelation in Minimally Transfused Young Beta-thalassemia Major Patients Unknown status NCT02173951 Phase 2, Phase 3 Deferiprone
50 Role of Vitamin C to Augment Iron Chelation With DFP or DFX Unknown status NCT02083575 Phase 2, Phase 3 Vitamin C, Defriprone, deferisarox;deferiprone , deferesarox

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 28

Anatomical Context for Hemoglobinopathy

MalaCards organs/tissues related to Hemoglobinopathy:

38
Bone, Bone Marrow, Kidney, Liver, Heart, T Cells, Endothelial

Publications for Hemoglobinopathy

Articles related to Hemoglobinopathy:

(show top 50) (show all 354)
# Title Authors Year
1
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
2
Experiences of a High-Risk Population with Prenatal Hemoglobinopathy Carrier Screening in a Primary Care Setting: a Qualitative Study. ( 28980104 )
2017
3
Hemoglobin Titusville: a rare low oxygen affinity hemoglobinopathy. ( 28588857 )
2017
4
Detection of Residual Donor Erythroid Progenitor Cells after Hematopoietic Stem Cell Transplantation for Patients with Hemoglobinopathies. ( 28930976 )
2017
5
Hepcidin detects iron deficiency in Sri Lankan adolescents with a high burden of hemoglobinopathy: A diagnostic test accuracy study. ( 27883199 )
2017
6
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
7
Low affinity hemoglobinopathy (Hb Vigo) due to a new mutation of beta globin gene (c200 A>T; Lys>Ile). A cause of rare anemia misdiagnosis. ( 28066926 )
2017
8
A Primed Hemoglobinopathy Screen. ( 28751324 )
2017
9
Bilateral simultaneous macular infarction with spontaneous visual recovery in genotype ss hemoglobinopathy patient. ( 29379002 )
2017
10
Thalassemia and hemoglobinopathies in an ethnic minority group in Central Vietnam: implications to health burden and relationship between two ethnic minority groups. ( 28497434 )
2017
11
Cross-Sectional Study for the Detection of Mutations in the Beta-Globin Gene Among Patients with Hemoglobinopathies in the Bengali Population. ( 27828729 )
2017
12
A Novel Double Heterozygous Hb D-Punjab/Hb J-Meerut Hemoglobinopathy. ( 29075078 )
2017
13
European migration crises: The role of national hemoglobinopathy registries in improving patient access to care. ( 28371007 )
2017
14
Evaluation of four hemoglobin separation analyzers for hemoglobinopathy diagnosis. ( 28383138 )
2017
15
Ten Years of Routine I+- and I^-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations. ( 26635043 )
2016
16
Fat Embolism Syndrome Secondary to Bone Marrow Necrosis in Patients with Hemoglobinopathies. ( 27598359 )
2016
17
Hemoglobin E Hemoglobinopathy in an Adult from Assam with Unusual Presentation: A Diagnostic Dilemma. ( 27365922 )
2016
18
Seropositivity of Hepatitis B and C among Syrian Multi-transfused Patients with Hemoglobinopathy. ( 27648209 )
2016
19
Hemopoietic stem cell transplantation in thalassemia: a report from the European Society for Blood and Bone Marrow Transplantation Hemoglobinopathy Registry, 2000-2010. ( 26752139 )
2016
20
Hb D: A Not So Rare Hemoglobinopathy. ( 27408416 )
2016
21
Population Screening for Hemoglobinopathy Profiling: Is the Development of a Microarray Worthwhile? ( 27250938 )
2016
22
Potential use of cord blood for Hb E hemoglobinopathy screening programme using capillary electrophoresis. ( 28028293 )
2016
23
Hemoglobinopathy testing: the significance of accuracy and pitfalls in HbA2 determination. ( 27976500 )
2016
24
Animal models of I^-hemoglobinopathies: utility and limitations. ( 27853395 )
2016
25
Therapeutic fetal-globin inducers reduce transcriptional repression in hemoglobinopathy erythroid progenitors through distinct mechanisms. ( 26603726 )
2016
26
Report on Ten Years' Experience of Premarital Hemoglobinopathy Screening at a Center in Antalya, Southern Turkey. ( 27207683 )
2016
27
A case combined hemoglobinopathy. ( 27728331 )
2016
28
Evaluation of the V8 E-Class, a Novel Automated Capillary Isoelectric Focusing Instrument for Hemoglobinopathy Screening. ( 27543981 )
2016
29
Prevalence of thalassemia and hemoglobinopathy in eastern India: A 10-year high-performance liquid chromatography study of 119,336 cases. ( 27011683 )
2016
30
Gilbert syndrome acts as a risk factor of developing gallstone among I^ hemoglobinopathy tunisian patients. ( 26375741 )
2015
31
Hemoglobinopathy or Analytical Interference? ( 26319455 )
2015
32
Cardiac and Hepatic T2*-Weighted Magnetic Resonance Imaging in Transfusion Dependent Hemoglobinopathy in North West of Iran. ( 26985353 )
2015
33
Diagnosis of a novel hemoglobinopathy of compound heterozygosity of hemoglobin S/hemoglobin Q India. ( 25576799 )
2015
34
Hemoglobinopathy Screening in a 15-Year-old Patient With Anemia. ( 26181419 )
2015
35
The Changing Epidemiology of Pediatric Hemoglobinopathy Patients in Northern Alberta, Canada. ( 26422283 )
2015
36
Hemoglobinopathy in India. ( 25721910 )
2015
37
Immunogenicity of pneumococcal vaccination in a patient with sickle hemoglobinopathy: a case report. ( 26273454 )
2015
38
Another Rare Unstable Hemoglobinopathy: Hemoglobin Casper/Southampton Associated with Moyamoya Disease. ( 26120320 )
2015
39
Inspired-expired oxygen gap: an alternative method for oxygen saturation monitoring in a patient with an undiagnosed hemoglobinopathy. ( 26053776 )
2015
40
Red blood cell parameters in antenatal nonsickling hemoglobinopathy screening. ( 25914560 )
2015
41
A novel double heterozygous Hb Fontainebleau/HbD Punjab hemoglobinopathy. ( 26036869 )
2015
42
Hemoglobinopathy screening by osmotic fragility test based on flow cytometer or naked eye. ( 25515688 )
2014
43
Individualizing fetal hemoglobin augmenting therapy for I^-type hemoglobinopathies patients. ( 25155936 )
2014
44
Efficiency of recombinant erythropoietin administration in hemoglobinopathy H. ( 24523332 )
2014
45
Compound heterozygous hemoglobin d-punjab/hemoglobin d-iran: a novel hemoglobinopathy. ( 25332633 )
2014
46
Frequency of beta-thalassemia or beta-hemoglobinopathy carriers simultaneously affected with alpha-thalassemia in Iran. ( 25016698 )
2014
47
Diagnostic utility of isoelectric focusing and high performance liquid chromatography in neonatal cord blood screening for thalassemia and non-sickling hemoglobinopathies. ( 24095765 )
2014
48
Hemoglobinopathy Screening by Osmotic Fragility Test Based on Flow Cytometer or Naked Eye. ( 25421017 )
2014
49
Diagnosis of a rare double heterozygous Hb D Punjab/Hb Q India hemoglobinopathy using Sebia capillary zone electrophoresis. ( 25308024 )
2014
50
Induction of fetal hemoglobin as a novel therapeutic strategy for I^-hemoglobinopathy. ( 24694782 )
2014

Variations for Hemoglobinopathy

ClinVar genetic disease variations for Hemoglobinopathy:

6
# 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.257T> C (p.Phe86Ser) single nucleotide variant Pathogenic rs35693898 GRCh37 Chromosome 11, 5247865: 5247865
3 HBB NM_000518.4(HBB): c.70_72delGTT (p.Val24del) deletion Pathogenic rs34160180 GRCh37 Chromosome 11, 5248180: 5248182
4 HBB NM_000518.4(HBB): c.199A> G (p.Lys67Glu) single nucleotide variant Pathogenic rs34165323 GRCh37 Chromosome 11, 5247923: 5247923
5 HBB NM_000518.4(HBB): c.295G> A (p.Val99Met) single nucleotide variant Pathogenic rs33933298 GRCh37 Chromosome 11, 5247827: 5247827
6 HBB NM_000518.4(HBB): c.404T> A (p.Val135Glu) single nucleotide variant Pathogenic rs33966761 GRCh37 Chromosome 11, 5246868: 5246868
7 HBB NM_000518.4(HBB): c.176C> G (p.Pro59Arg) single nucleotide variant Pathogenic rs33991472 GRCh37 Chromosome 11, 5247946: 5247946
8 HBB NM_000518.4(HBB): c.380T> G (p.Val127Gly) single nucleotide variant Pathogenic rs33925391 GRCh37 Chromosome 11, 5246892: 5246892
9 HBB NM_000518.4(HBB): c.277C> A (p.His93Asn) single nucleotide variant Pathogenic rs33924775 GRCh37 Chromosome 11, 5247845: 5247845
10 HBB NM_000518.4(HBB): c.347C> A (p.Ala116Asp) single nucleotide variant Pathogenic rs35485099 GRCh37 Chromosome 11, 5246925: 5246925

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 region GO:0005576 9.98 EPO HAMP HBA1 HBA2 HBB HP
2 extracellular space GO:0005615 9.97 EPO HAMP HBA1 HBA2 HBB HFE
3 blood microparticle GO:0072562 9.73 HBA1 HBA2 HBB HBD HP TF
4 endocytic vesicle lumen GO:0071682 9.46 HBA1 HBA2 HBB HP
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 9.26 HBA1 HBA2 HBB HP
8 hemoglobin complex GO:0005833 9.02 HBA1 HBA2 HBB HBD HBG1

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.76 HBB HBD HBG1
2 receptor-mediated endocytosis GO:0006898 9.76 HBA1 HBA2 HBB HP
3 protein heterooligomerization GO:0051291 9.69 HBA1 HBA2 HBB
4 cellular iron ion homeostasis GO:0006879 9.65 HAMP HFE TF
5 cellular oxidant detoxification GO:0098869 9.62 HBA1 HBA2 HBB HP
6 bicarbonate transport GO:0015701 9.61 HBA1 HBA2 HBB
7 transferrin transport GO:0033572 9.6 HFE TF
8 liver regeneration GO:0097421 9.59 HAMP HFE
9 positive regulation of receptor-mediated endocytosis GO:0048260 9.58 HFE TF
10 response to iron ion GO:0010039 9.57 HAMP HFE
11 response to vitamin A GO:0033189 9.56 EPO HAMP
12 response to hydrogen peroxide GO:0042542 9.56 HBA1 HBA2 HBB HP
13 cellular response to peptide GO:1901653 9.54 KLF1 KLF10
14 hydrogen peroxide catabolic process GO:0042744 9.54 HBA1 HBA2 HBB
15 multicellular organismal iron ion homeostasis GO:0060586 9.52 HAMP HFE
16 cellular response to iron ion GO:0071281 9.49 HFE TF
17 positive regulation of cell death GO:0010942 9.46 HBA1 HBA2 HBB HP
18 response to iron ion starvation GO:1990641 9.4 HAMP HFE
19 acute-phase response GO:0006953 9.35 EPO HAMP HFE HP UGT1A1
20 oxygen transport GO:0015671 9.02 HBA1 HBA2 HBB HBD HBG1
21 transport GO:0006810 10.09 HBA1 HBA2 HBB HBD HBG1 HFE

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

# Name GO ID Score Top Affiliating Genes
1 iron ion binding GO:0005506 9.72 HBA1 HBA2 HBB HBD HBG1
2 heme binding GO:0020037 9.65 HBA1 HBA2 HBB HBD HBG1
3 peroxidase activity GO:0004601 9.54 HBA1 HBA2 HBB
4 transferrin receptor binding GO:1990459 9.43 HFE TF
5 hemoglobin binding GO:0030492 9.4 HBB HP
6 oxygen binding GO:0019825 9.35 HBA1 HBA2 HBB HBD HBG1
7 haptoglobin binding GO:0031720 9.33 HBA1 HBA2 HBB
8 oxygen carrier activity GO:0005344 9.02 HBA1 HBA2 HBB HBD HBG1

Sources for Hemoglobinopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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