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MCID: HMG005
MIFTS: 53

Hemoglobinopathy

Categories: Rare diseases, Blood diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Hemoglobinopathy

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MalaCards integrated aliases for Hemoglobinopathy:

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

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Blood diseases
See all MalaCards categories (disease lists)
ICD10: 33


External Ids:

Disease Ontology 12 DOID:2860
ICD10 33 D58.2
MeSH 44 D006453
NCIt 50 C3092
UMLS 73 C0019045
Sources

Summaries for Hemoglobinopathy

About this section
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 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 kidney, 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...

Sources

Related Diseases for Hemoglobinopathy

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

(show top 50) (show all 130)
# Related Disease Score Top Affiliating Genes
1 heinz body anemias 32.9 HBA1 HBA2 HBB
2 methemoglobinemia, beta-globin type 32.5 HBA1 HBA2 HBB
3 hydrops fetalis 30.8 HBA1 HBA2
4 glucosephosphate dehydrogenase deficiency 30.1 HBB HP UGT1A1
5 hemoglobin c disease 30.0 HBB HBD HBE1
6 sickle cell disease 29.1 EPO HBA2 HBB HBD HBG1
7 hemosiderosis 28.6 EPO HAMP TF
8 iron deficiency anemia 28.6 EPO HAMP TF
9 hemolytic anemia 28.5 EPO HBA1 HBA2 HBB HP
10 iron metabolism disease 28.4 EPO TF
11 sickle cell anemia 28.3 EPO HBA1 HBA2 HBB HBG1 UGT1A1
12 malaria 27.4 EPO HAMP HBA1 HBA2 HBB HP
13 deficiency anemia 26.9 EPO HAMP HBA2 HBB HP TF
14 alpha-thalassemia 26.6 EPO HBA1 HBA2 HBB HBE1 HBG1
15 thalassemia 26.3 EPO HBA1 HBA2 HBB HBD HBE1
16 beta-thalassemia 24.4 EPO HAMP HBA1 HBA2 HBB HBD
17 congenital hemolytic anemia 24.3 EPO HBA2 HBB HBD HBE1 HBG1
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 zurich 10.8 HBA2 HBB
22 hemoglobin lepore-beta-thalassemia syndrome 10.8 HBB HBD
23 alpha-thalassemia/mental retardation syndrome, chromosome 16-related 10.8 HBA1 HBA2
24 hemoglobin d disease 10.8 HBB HBD
25 hydrops fetalis, nonimmune 10.8 HBA1 HBA2
26 diabetes mellitus, insulin-dependent, 24 10.8 HBA1 HBA2
27 malignant secondary hypertension 10.8 HBB HBD
28 hypoglycemic coma 10.8 HBA1 HBA2
29 type 1 diabetes mellitus 7 10.8 HBA1 HBA2
30 osgood-schlatter's disease 10.8 HBB HBD
31 type 1 diabetes mellitus 11 10.8 HBA1 HBA2
32 immature cataract 10.7 HBA1 HBA2
33 kluver-bucy syndrome 10.7 HBB HBD
34 malignant essential hypertension 10.7 HBB HBD
35 capillary hemangioma 10.6 HBA1 PECAM1
36 glutathione peroxidase deficiency 10.6 HBA1 HBA2 HBB
37 pleuropneumonia 10.6 HBB HBD
38 liver angiosarcoma 10.5 HBA1 UGT1A1
39 hemoglobinemia 10.5 HBB HP
40 fetal hemoglobin quantitative trait locus 1 10.4 HBB HBD HBG1
41 splenic disease 10.3 EPO HBB
42 hemoglobin e disease 10.2 HBB HBD HBE1
43 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome 10.2 HBB HBG1 KLF1
44 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome 10.2 HBB HBG1 KLF1
45 hematopoietic stem cell transplantation 10.1
46 senile angioma 10.1 HBA1 TF
47 anemia of prematurity 10.1 EPO HAMP
48 pulmonary hypertension 10.0
49 spherocytosis, type 2 10.0 HBB HBE1 KLF1
50 rubeosis iridis 10.0 HBA2 HBB

Graphical network of the top 20 diseases related to Hemoglobinopathy:



Diseases related to Hemoglobinopathy
Sources

Symptoms & Phenotypes for Hemoglobinopathy

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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 HBE1 HBG1 HBA1 HBA2
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 PECAM1 HBA2
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 PECAM1 HBA1 HBA2
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
Sources

Drugs & Therapeutics for Hemoglobinopathy

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

(show top 50) (show all 437)
# 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
Deferiprone Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 30652-11-0 2972
5
Deferoxamine Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 70-51-9 2973
6
Iron Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 7439-89-6 23925
7
Deferasirox Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 201530-41-8 5493381
8
Hydroxyurea Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 127-07-1 3657
9
Zoledronic acid Approved Phase 4,Phase 2,Phase 3,Phase 1 118072-93-8 68740
10
Morphine Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 57-27-2 5288826
11
Fludarabine Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 21679-14-1, 75607-67-9 30751
12
Proguanil Approved Phase 4,Phase 1,Phase 2,Not Applicable 500-92-5 4923
13
Ketamine Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 6740-88-1 3821
14
Guaifenesin Approved, Investigational, Vet_approved Phase 4,Phase 1,Phase 2,Not Applicable 93-14-1 3516
15
Zinc Approved, Investigational Phase 4,Phase 2,Phase 1,Not Applicable 7440-66-6 23994
16
Zinc sulfate Approved, Investigational Phase 4,Phase 2,Phase 1,Not Applicable 7733-02-0
17
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4,Phase 2 437-38-7 3345
18
Amodiaquine Approved, Investigational Phase 4,Phase 1,Phase 2 86-42-0 2165
19
Artemether Approved Phase 4 71963-77-4 119380 68911
20
Artesunate Approved, Investigational Phase 4,Phase 1,Phase 2 88495-63-0 6917864 5464098
21
Lumefantrine Approved Phase 4 82186-77-4 6437380
22
Mefloquine Approved, Investigational Phase 4,Phase 1,Phase 2 53230-10-7 4046
23
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 1,Phase 2,Not Applicable,Early Phase 1 22916-47-8 4189
24
Piperaquine Approved, Investigational Phase 4 4085-31-8 5079497
25
Hydromorphone Approved, Illicit Phase 4,Phase 3,Phase 2 466-99-9 5284570
26
Busulfan Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 55-98-1 2478
27
Cyclophosphamide Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 50-18-0, 6055-19-2 2907
28
Methotrexate Approved Phase 4,Phase 2,Phase 1 1959-05-2, 59-05-2 126941
29
Mycophenolate mofetil Approved, Investigational Phase 4,Phase 1,Phase 2,Not Applicable 128794-94-5 5281078
30
Mycophenolic acid Approved Phase 4,Phase 1,Phase 2,Not Applicable 24280-93-1 446541
31
Tacrolimus Approved, Investigational Phase 4,Phase 1,Phase 2 104987-11-3 445643 439492
32
Pyrimethamine Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2 58-14-0 4993
33
Sulfadoxine Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 2447-57-6 17134
34
Ledipasvir Approved Phase 4,Phase 2 1256388-51-8 67505836
35
Sofosbuvir Approved Phase 4,Phase 2 1190307-88-0 45375808
36
Codeine Approved, Illicit Phase 4,Phase 1,Phase 2 76-57-3 5284371
37
Basiliximab Approved, Investigational Phase 4 152923-56-3, 179045-86-4
38
Metformin Approved Phase 4,Early Phase 1 657-24-9 14219 4091
39
Dihydroartemisinin Approved, Investigational Phase 4 71939-50-9 6918483
40
Ibuprofen Approved Phase 4,Phase 2,Not Applicable 15687-27-1 3672
41
Desogestrel Approved Phase 4 54024-22-5 40973
42
Etonogestrel Approved, Investigational Phase 4 54048-10-1 40976 6917715
43
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
44
Heroin Approved, Illicit, Investigational Phase 4 561-27-3 5462328
45
Ergocalciferol Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1 50-14-6 5280793
46
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 1406-16-2
47
Vitamin D3 Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1 67-97-0 6221 5280795
48
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 59-30-3 6037
49
leucovorin Approved, Nutraceutical Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 58-05-9 143 6006
50
Citric Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 77-92-9 311

Interventional clinical trials:

(show top 50) (show all 791)
# 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 Rejuvesol® Washed RBC in Sickle Cell Patients Requiring Frequent Transfusions Completed NCT02731157 Phase 4 Rejuvesol
8 Future of Spermatogenesis in Men With Sickle Cell Disease Medically Treated Completed NCT01609192 Phase 4 Hydrea® (hydroxyurea )
9 Intranasal Fentanyl for Initial Treatment of a Vaso-occlusive Crisis Completed NCT01482091 Phase 4 Fentanyl Citrate;Normal Saline
10 Tracking Resistance to Artemisinin (TRAC) Completed NCT01350856 Phase 4 Artesunate 2;Artesunate 4
11 Efficacy Study of the Use of Sequential DFP-DFO Versus DFP Completed NCT00733811 Phase 4 Deferiprone (DFP) and Deferoxamine (DFO);Deferiprone (DFP)
12 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
13 Pneumococcal Vaccination for Splenectomised Thalassemia Major Patients in Indonesia Completed NCT03095326 Phase 4 Sucrose
14 Evaluation of the Impact of Renal Function on the Pharmacokinetics of SIKLOS ® (DARH) Completed NCT02522104 Phase 4 Siklos
15 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)
16 An Epidemiological Study to Assess Iron Overload Using MRI in Patients With Transfusional Siderosis (TIMES Study) Completed NCT01736540 Phase 4
17 Post Hematopoietic Stem Cell Transplantation Completed NCT01610297 Phase 4 ICL670
18 Combo Chelation Trial Completed NCT00901199 Phase 4 Combo Chelation with Deferasirox (Exjade) and Desferal (DFO)
19 Pilot Study for Patients With Poor Response to Deferasirox Completed NCT00749515 Phase 4 Deferoxamine;Deferasirox
20 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
21 Intensive Combined Chelation Therapy for Iron-Induced Cardiac Disease in Patients With Thalassemia Major Completed NCT00800761 Phase 4 Deferoxamine and Deferiprone;Deferoxamine
22 Pegasys® Plus Ribavirin in Thalassemic Patients With Hepatitis C Virus Infection Completed NCT00707850 Phase 4 PEGASYS® (Peginterferon Alfa-2a (40KD)) Plus COPEGUS® (Ribavirin)
23 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
24 Evaluating the Efficacy of Deferasirox in Transfusion Dependent Chronic Anaemias (Myelodysplastic Syndrome, Beta-thalassaemia Patients) With Chronic Iron Overload Completed NCT00564941 Phase 4 deferasirox
25 Efficacy Study in Removing Excess Iron From the Heart Completed NCT00105495 Phase 4 Ferriprox (deferiprone);Desferal (deferoxamine)
26 Study on the Mechanism of Colla Corri Asini in the Treatment of Thalassemia Patients With Pregnancy Anemia Recruiting NCT03392298 Phase 4 Colla corii asini
27 Haploidentical Hematopoietic Stem Cell Transplantation for Patients With Thalassemia Major Recruiting NCT03171831 Phase 4 Busulfan;Cyclophosphamide;Fludarabine;Mycophenolate mofetil;Tacrolimus;Methotrexate;Thymoglobulin;Basiliximab
28 The Potential Hepatoprotective Effect of Metformin in Patients With Beta Thalassemia Major Recruiting NCT02984475 Phase 4 Metformin
29 Efficacy and Safety of Ferriprox® in Patients With Sickle Cell Disease or Other Anemias Recruiting NCT02041299 Phase 4 Deferiprone;Deferoxamine
30 L-arginine Versus Sildenafil in Children With Beta Thalassemia Associated With Pulmonary Hypertension Recruiting NCT03402191 Phase 4 L-arginine;Sildenafil
31 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)
32 Sofosbuvir/Ledipasvir for Hepatitis C Genotype 1-6 in Patients With Transfusion-Dependent Thalassemia: An Open Label Trial Recruiting NCT03032666 Phase 4 sofosbuvir/velpatasvir
33 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
34 Contraception in Women With Sickle Cell Disease Active, not recruiting NCT02594462 Phase 4 etonogestrel-releasing implant contraceptive
35 Risk Clinical Stratification of Sickle Cell Disease in Nigeria, Assessment of Efficacy/Safety of Hydroxyurea Treatment Active, not recruiting NCT02149537 Phase 4 hydroxyurea
36 Efficacy and Safety Study of Deferasirox in Patients With Non-transfusion Dependent Thalassemia Active, not recruiting NCT01709838 Phase 4 ICL670 deferasirox
37 Mobile-Directly Observed Therapy on Adherence to Hydroxyurea Enrolling by invitation NCT02844673 Phase 4 Hydroxyurea
38 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
39 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
40 Does IV Acetaminophen Reduce Opioid Requirement in Pediatric Emergency Department Patients With Acute Sickle Cell Crises? Not yet recruiting NCT03541980 Phase 4 Acetaminophen;Normal saline
41 A Randomized Phase IV Control Trial of Single High Dose Oral Vitamin D3 in Pediatric Patients Undergoing HSCT Not yet recruiting NCT03176849 Phase 4
42 Ketorolac Versus Ibuprofen to Treat Painful Episodes of Sickle Cell Disease Terminated NCT00115336 Phase 4 Intravenous Ketorolac;Ibuprofen
43 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
44 Immunogenicity and Safety Study of Pneumococcal 7-Valent Conjugate Vaccine in Sickle Cell Disease Infants. Terminated NCT00368186 Phase 4
45 Pilot Study on the Effects of Intravenous Ketamine on Acute Pain Crisis in Patients With Sickle Cell Disease Terminated NCT00252122 Phase 4 Ketamine
46 Endothelial Function in Patients With Sickle Cell Anemia Before and After Sildenafil Withdrawn NCT00937144 Phase 4 Viagra (Sildenafil);placebo
47 Effect of Deferasirox on Endocrine Complications in Subjects With Transfusion Dependent Thalassemia Withdrawn NCT02069886 Phase 4 deferasirox
48 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
49 Assessment of Opioid Analgesia in Sickle Cell Withdrawn NCT00513864 Phase 4 Dextromethorphan;Codeine;Morphine
50 Ketamine as an Adjuvant Therapy for Acute Vaso Occlusive Crisis in Pediatric Patients With Sickle Cell Disease Unknown status NCT02801292 Phase 3 Ketamine

Search NIH Clinical Center for Hemoglobinopathy

Cochrane evidence based reviews: hemoglobinopathies

Sources

Genetic Tests for Hemoglobinopathy

About this section

Genetic tests related to Hemoglobinopathy:

# Genetic test Affiliating Genes
1 Hemoglobinopathy 29
Sources

Anatomical Context for Hemoglobinopathy

About this section

MalaCards organs/tissues related to Hemoglobinopathy:

41
Bone, Bone Marrow, Kidney, Liver, Heart, T Cells, Endothelial
Sources

Publications for Hemoglobinopathy

About this section

Articles related to Hemoglobinopathy:

(show top 50) (show all 391)
# 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
Allogeneic hematopoietic stem cell transplantation in congenital hemoglobinopathies with myeloablative conditioning and rabbit anti-thymocyte globulin. ( 29963521 )
2018
7
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
8
Correction: Transfusion-Transmitted Plasmodium falciparum in a Patient With Sickle Cell Hemoglobinopathy. ( 29971421 )
2018
9
Transfusion-Transmitted Plasmodium falciparum in a Patient With Sickle Cell Hemoglobinopathy. ( 29801034 )
2018
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
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
12
Evaluation of four hemoglobin separation analyzers for hemoglobinopathy diagnosis. ( 28383138 )
2017
13
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
14
The epidemiologic transition of thalassemia and associated hemoglobinopathies in southern Taiwan. ( 27891555 )
2017
15
Cross-Sectional Study for the Detection of Mutations in the Beta-Globin Gene Among Patients with Hemoglobinopathies in the Bengali Population. ( 27828729 )
2017
16
Posterior Reversible Encephalopathy Syndrome after Hematopoietic Cell Transplantation in Children with Hemoglobinopathies. ( 28602890 )
2017
17
European migration crises: The role of national hemoglobinopathy registries in improving patient access to care. ( 28371007 )
2017
18
Detection of Residual Donor Erythroid Progenitor Cells after Hematopoietic Stem Cell Transplantation for Patients with Hemoglobinopathies. ( 28930976 )
2017
19
Hemoglobin Titusville: a rare low oxygen affinity hemoglobinopathy. ( 28588857 )
2017
20
Bilateral simultaneous macular infarction with spontaneous visual recovery in genotype ss hemoglobinopathy patient. ( 29379002 )
2017
21
A Novel Double Heterozygous Hb D-Punjab/Hb J-Meerut Hemoglobinopathy. ( 29075078 )
2017
22
A Primed Hemoglobinopathy Screen. ( 28751324 )
2017
23
Experiences of a High-Risk Population with Prenatal Hemoglobinopathy Carrier Screening in a Primary Care Setting: a Qualitative Study. ( 28980104 )
2017
24
Hepcidin detects iron deficiency in Sri Lankan adolescents with a high burden of hemoglobinopathy: A diagnostic test accuracy study. ( 27883199 )
2017
25
Report on Ten Years' Experience of Premarital Hemoglobinopathy Screening at a Center in Antalya, Southern Turkey. ( 27207683 )
2016
26
Hemopoietic stem cell transplantation in thalassemia: a report from the European Society for Blood and Bone Marrow Transplantation Hemoglobinopathy Registry, 2000-2010. ( 26752139 )
2016
27
A case combined hemoglobinopathy. ( 27728331 )
2016
28
Hb D: A Not So Rare Hemoglobinopathy. ( 27408416 )
2016
29
Population Screening for Hemoglobinopathy Profiling: Is the Development of a Microarray Worthwhile? ( 27250938 )
2016
30
Hemoglobin E Hemoglobinopathy in an Adult from Assam with Unusual Presentation: A Diagnostic Dilemma. ( 27365922 )
2016
31
Animal models of I^-hemoglobinopathies: utility and limitations. ( 27853395 )
2016
32
Mass Spectrometry-Based Diagnosis of Hemoglobinopathies: A Potential Tool for the Screening of Genetic Disorder. ( 27368696 )
2016
33
Prevalence of thalassemia and hemoglobinopathy in eastern India: A 10-year high-performance liquid chromatography study of 119,336 cases. ( 27011683 )
2016
34
[Regulation of the I^-globin gene family expression, useful in the search for new therapeutic targets for hemoglobinopathies]. ( 27959850 )
2016
35
Hemoglobinopathy testing: the significance of accuracy and pitfalls in HbA2 determination. ( 27976500 )
2016
36
Ten Years of Routine I+- and I^-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations. ( 26635043 )
2016
37
Potential use of cord blood for Hb E hemoglobinopathy screening programme using capillary electrophoresis. ( 28028293 )
2016
38
Molecular Epidemiology of Hemoglobinopathies in Cambodia. ( 27117566 )
2016
39
Evaluation of the V8 E-Class, a Novel Automated Capillary Isoelectric Focusing Instrument for Hemoglobinopathy Screening. ( 27543981 )
2016
40
Fat Embolism Syndrome Secondary to Bone Marrow Necrosis in Patients with Hemoglobinopathies. ( 27598359 )
2016
41
Seropositivity of Hepatitis B and C among Syrian Multi-transfused Patients with Hemoglobinopathy. ( 27648209 )
2016
42
Therapeutic fetal-globin inducers reduce transcriptional repression in hemoglobinopathy erythroid progenitors through distinct mechanisms. ( 26603726 )
2016
43
Gilbert syndrome acts as a risk factor of developing gallstone among I^ hemoglobinopathy tunisian patients. ( 26375741 )
2015
44
Immunogenicity of pneumococcal vaccination in a patient with sickle hemoglobinopathy: a case report. ( 26273454 )
2015
45
Diagnosis of a novel hemoglobinopathy of compound heterozygosity of hemoglobin S/hemoglobin Q India. ( 25576799 )
2015
46
Cardiac and Hepatic T2*-Weighted Magnetic Resonance Imaging in Transfusion Dependent Hemoglobinopathy in North West of Iran. ( 26985353 )
2015
47
A novel double heterozygous Hb Fontainebleau/HbD Punjab hemoglobinopathy. ( 26036869 )
2015
48
Hemoglobinopathy in India. ( 25721910 )
2015
49
Hemoglobinopathy Screening in a 15-Year-old Patient With Anemia. ( 26181419 )
2015
50
Hemoglobinopathy or Analytical Interference? ( 26319455 )
2015
Sources

Variations for Hemoglobinopathy

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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
Sources

Expression for Hemoglobinopathy

About this section
Search GEO for disease gene expression data for Hemoglobinopathy.
Sources

Pathways for Hemoglobinopathy

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Pathways related to Hemoglobinopathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Response to elevated platelet cytosolic Ca2+ 66
Show member pathways
 12.96 HBB HBD HBE1 HBG1 PECAM1 TF
2
Factors involved in megakaryocyte development and platelet production 66
11.82 HBB HBD HBE1 HBG1
3
Binding and Uptake of Ligands by Scavenger Receptors 66
Show member pathways
 11.27 HBA1 HBA2 HBB HP
4
African trypanosomiasis 37
10.98 HBA1 HBA2 HBB
5
O2/CO2 exchange in erythrocytes 66
Show member pathways
 10.88 HBA1 HBA2 HBB
6
Malaria 37
10.61 HBA1 HBA2 HBB PECAM1
7
Iron metabolism in placenta 1
10.45 HAMP TF
Sources

GO Terms for Hemoglobinopathy

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.92 EPO HAMP HBA1 HBA2 HBB HP
2 extracellular region GO:0005576 9.91 EPO HAMP HBA1 HBA2 HBB HP
3 blood microparticle GO:0072562 9.7 HBA1 HBA2 HBB HBD HBE1 HP
4 endocytic vesicle lumen GO:0071682 9.56 HBA1 HBA2 HBB HP
5 haptoglobin-hemoglobin complex GO:0031838 9.26 HBA1 HBA2 HBB HP
6 hemoglobin complex GO:0005833 9.1 HBA1 HBA2 HBB HBD HBE1 HBG1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 receptor-mediated endocytosis GO:0006898 9.78 HBA1 HBA2 HBB HP
2 blood coagulation GO:0007596 9.76 HBB HBD HBE1 HBG1
3 cellular oxidant detoxification GO:0098869 9.67 HBA1 HBA2 HBB HP
4 protein heterooligomerization GO:0051291 9.62 HBA1 HBA2 HBB HBE1
5 bicarbonate transport GO:0015701 9.61 HBA1 HBA2 HBB
6 hydrogen peroxide catabolic process GO:0042744 9.58 HBA1 HBA2 HBB
7 response to hydrogen peroxide GO:0042542 9.56 HBA1 HBA2 HBB HP
8 response to vitamin A GO:0033189 9.51 EPO HAMP
9 cellular response to peptide GO:1901653 9.49 KLF1 KLF10
10 positive regulation of cell death GO:0010942 9.46 HBA1 HBA2 HBB HP
11 acute-phase response GO:0006953 9.26 EPO HAMP HP UGT1A1
12 oxygen transport GO:0015671 9.1 HBA1 HBA2 HBB HBD HBE1 HBG1

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

# Name GO ID Score Top Affiliating Genes
1 iron ion binding GO:0005506 9.73 HBA1 HBA2 HBB HBD HBE1 HBG1
2 heme binding GO:0020037 9.63 HBA1 HBA2 HBB HBD HBE1 HBG1
3 peroxidase activity GO:0004601 9.54 HBA1 HBA2 HBB
4 haptoglobin binding GO:0031720 9.5 HBA1 HBA2 HBB
5 oxygen binding GO:0019825 9.43 HBA1 HBA2 HBB HBD HBE1 HBG1
6 hemoglobin binding GO:0030492 9.4 HBB HP
7 oxygen carrier activity GO:0005344 9.1 HBA1 HBA2 HBB HBD HBE1 HBG1
8 metal ion binding GO:0046872 10.09 HBA1 HBA2 HBB HBD HBE1 HBG1
Sources

Sources for Hemoglobinopathy

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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