Aliases & Classifications for Hemoglobinopathy

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. Hemoglobinopathies monitoring means finding out the number of people with these conditions and how having a hemoglobinopathy affects their health, so that researchers and health care providers can ultimately improve the health of people with hemoglobinopathies.

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 Glucose / Energy Metabolism and Factors involved in megakaryocyte development and platelet production. The drugs Ribavirin and Peginterferon alfa-2a have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and testes.

Wikipedia : 75 Hemoglobinopathy or Hemoglobinopathies is the medical term for a group of blood disorders and diseases... more...

Related Diseases for Hemoglobinopathy

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

(show top 50) (show all 334)
# Related Disease Score Top Affiliating Genes
1 methemoglobinemia, beta-globin type 33.3 HBB HBA2 HBA1
2 heinz body anemias 33.3 HBB HBA2 HBA1
3 hydrops fetalis 31.5 HBA2 HBA1
4 hemoglobin d disease 31.4 HBD HBB
5 hypochromic microcytic anemia 31.3 HBB HBA2
6 hemoglobin e disease 30.9 HBE1 HBD HBB
7 hemoglobin c disease 30.8 HBE1 HBD HBB
8 erythrocytosis, familial, 7 30.8 HBA2 HBA1
9 hemoglobin zurich 30.7 HBB HBA2
10 fetal hemoglobin quantitative trait locus 1 30.4 HBG1 HBD HBB
11 hemosiderosis 30.3 HFE HAMP EPO
12 iron metabolism disease 30.3 HFE EPO
13 splenomegaly 30.2 HBA2 EPO
14 microcytic anemia 30.1 HBA2 HBA1 EPO
15 iron deficiency anemia 30.0 HFE HAMP EPO
16 methemoglobinemia 30.0 HP HBB G6PD
17 inherited metabolic disorder 29.9 UGT1A1 HFE HAMP
18 glucosephosphate dehydrogenase deficiency 29.9 UGT1A1 HP HBB G6PD
19 bilirubin metabolic disorder 29.8 UGT1A1 HP G6PD
20 sickle cell disease 29.6 HBG1 HBD HBB HBA2 G6PD EPO
21 hemochromatosis, type 1 29.6 HP HFE HAMP
22 plasmodium falciparum malaria 29.6 HP HBB G6PD
23 anemia, nonspherocytic hemolytic, due to g6pd deficiency 29.5 HP G6PD
24 sickle cell anemia 29.0 UGT1A1 HBG1 HBB HBA2 HBA1 G6PD
25 erythroleukemia, familial 28.9 KLF1 HBG1 HBB EPO
26 hemolytic anemia 28.7 HP HBB HBA2 HBA1 G6PD EPO
27 thalassemia 28.7 UGT1A1 HFE HBG1 HBE1 HBD HBB
28 hereditary spherocytosis 28.3 UGT1A1 KLF1 HFE HBG1 HBE1 HBB
29 deficiency anemia 28.2 HP HFE HBB HBA2 HAMP G6PD
30 hemoglobin h disease 28.0 HBE1 HBD HBB HBA2 HBA1 G6PD
31 malaria 27.2 PECAM1 HP HBB HBA2 HBA1 HAMP
32 beta-thalassemia 27.2 UGT1A1 KLF1 HFE HBG1 HBE1 HBD
33 alpha-thalassemia 26.8 UGT1A1 KLF1 HP HBG1 HBE1 HBB
34 congenital hemolytic anemia 26.2 KLF1 HP HBG1 HBE1 HBD HBB
35 hemoglobinopathy toms river 12.2
36 genetic hemoglobinopathy 12.2
37 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema 11.2
38 hemoglobin se disease 11.2
39 sickle cell - hemoglobin d disease 11.2
40 alpha-thalassemia/mental retardation syndrome, chromosome 16-related 10.7 HBA2 HBA1
41 hemoglobin lepore-beta-thalassemia syndrome 10.7 HBD HBB
42 diabetes mellitus, insulin-dependent, 24 10.7 HBA2 HBA1
43 hydrops fetalis, nonimmune 10.7 HBA2 HBA1
44 hypoglycemic coma 10.6 HBA2 HBA1
45 siderosis 10.6 HFE HBB
46 type 1 diabetes mellitus 7 10.6 HBA2 HBA1
47 malignant secondary hypertension 10.6 HBD HBB
48 type 1 diabetes mellitus 11 10.6 HBA2 HBA1
49 osgood-schlatter's disease 10.6 HBD HBB
50 immature cataract 10.6 HBA2 HBA1

Graphical network of the top 20 diseases related to Hemoglobinopathy:



Diseases related to Hemoglobinopathy

Symptoms & Phenotypes for Hemoglobinopathy

UMLS symptoms related to Hemoglobinopathy:


cyanosis

Drugs & Therapeutics for Hemoglobinopathy

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

(show top 50) (show all 171)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ribavirin Approved Phase 4 36791-04-5 37542
2
Peginterferon alfa-2a Approved, Investigational Phase 4 198153-51-4 5360545
3
Peginterferon alfa-2b Approved Phase 4 99210-65-8, 215647-85-1
4
Metformin Approved Phase 4 657-24-9 4091 14219
5
Deferasirox Approved, Investigational Phase 4 201530-41-8 5493381
6
Acarbose Approved, Investigational Phase 4 56180-94-0 441184
7
Glyburide Approved Phase 4 10238-21-8 3488
8
Deferoxamine Approved, Investigational Phase 4 70-51-9 2973
9 Interferon alpha-2 Phase 4
10 Interferon-alpha Phase 4
11 interferons Phase 4
12 Hypoglycemic Agents Phase 4
13 Chelating Agents Phase 4
14 Iron Chelating Agents Phase 4
15 Glycoside Hydrolase Inhibitors Phase 4
16 Cardiac Glycosides Phase 4
17 Siderophores Phase 4
18
Ambrisentan Approved, Investigational Phase 3 177036-94-1 6918493
19
Deferiprone Approved Phase 3 30652-11-0 2972
20 Antihypertensive Agents Phase 3
21 penicillins Phase 3
22
Iron Approved, Experimental Phase 2 15438-31-0, 7439-89-6 23925 27284
23
Pentoxifylline Approved, Investigational Phase 2 6493-05-6 4740
24
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
25
rituximab Approved Phase 2 174722-31-7 10201696
26
Hydroxyurea Approved Phase 1, Phase 2 127-07-1 3657
27
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
28
Thiotepa Approved, Investigational Phase 1, Phase 2 52-24-4 5453
29
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 6436030 5284616 46835353
30
Everolimus Approved Phase 2 159351-69-6 6442177 70789204
31
Abatacept Approved Phase 1, Phase 2 332348-12-6 10237
32
Prednisolone phosphate Approved, Vet_approved Phase 1, Phase 2 302-25-0
33
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
34
Methylprednisolone hemisuccinate Approved Phase 1, Phase 2 2921-57-5
35
leucovorin Approved Phase 2 58-05-9 143 6006
36
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
37
Promethazine Approved, Investigational Phase 2 60-87-7 4927
38
Acetaminophen Approved Phase 2 103-90-2 1983
39
Diphenhydramine Approved, Investigational Phase 2 58-73-1, 147-24-0 3100
40
Melphalan Approved Phase 1, Phase 2 148-82-3 460612 4053
41
alemtuzumab Approved, Investigational Phase 2 216503-57-0
42
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 445643 439492 6473866
43
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
44
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
45
Busulfan Approved, Investigational Phase 2 55-98-1 2478
46
Mycophenolic acid Approved Phase 2 24280-93-1 446541
47
Sargramostim Approved, Investigational Phase 2 83869-56-1, 123774-72-1
48
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
49
Lenograstim Approved, Investigational Phase 2 135968-09-1
50
Vidarabine Approved, Investigational Phase 1, Phase 2 24356-66-9 21704 32326

Interventional clinical trials:

(show top 50) (show all 125)
# Name Status NCT ID Phase Drugs
1 Phase IV Study of Effectiveness of Interferon and Ribavirin Treatment in Thalassemia Major Patients With Chronic Viral Hepatitis C Unknown status NCT00887081 Phase 4 PEG-IFN alpha2a or PEG-IFN alpha2b and Ribavirin
2 A Study of Magnetic Resonance Imaging Assessment of Cardiac and Liver Iron Load in Patients With Haemoglobinopathies, Myelodysplastic Syndromes (MDS) or Other Anaemias Treated With Exjade® (Deferasirox) (The MILE Study) Completed NCT00673608 Phase 4 deferasirox
3 Phase 4 Study Evaluation of the Effects of Acarbose Versus Glibenclamide on Mean Amplitude of Glycemic Excursions and Oxidative Stress in Patients With Type 2 Diabetes Insufficiently Controlled by Metformin Completed NCT00417729 Phase 4 Acarbose
4 Pilot Pharmacokinetic Study In Patients With Inadequate Response To Deferasirox (Exjade) Completed NCT00749515 Phase 4 Deferoxamine;Deferasirox
5 ARIES-3: A Phase 3, Long-Term, Open-Label, Multicenter Safety and Efficacy Study of Ambrisentan in Subjects With Pulmonary Hypertension Completed NCT00380068 Phase 3 Ambrisentan
6 Multicentre, Randomised, Open Label, Non-inferiority Trial to Evaluate the Efficacy and Safety of Deferiprone Compared to Deferasirox in Patients Aged From 1 Month to Less Than 18 Years Affected by Transfusion Dependent Haemoglobinopathies Completed NCT01825512 Phase 3 Deferiprone;Deferasirox
7 A Prospective Randomized Study Comparing Rapamune and Tacrolimus vs. Cyclosporine and Methotrexate as Immune Prophylaxis in Allogeneic Hematopoietic Stem Cell Transplantation, Using HLA-A, -B, -DRβ1 Identical Related or Unrelated Donors. A Nordic Multicenter Study. Completed NCT00993343 Phase 3 Sirolimus/tacrolimus;cyclosporine/methotrexate
8 Stroke Prevention in Sickle Cell Anemia (STOP 1) Completed NCT00000592 Phase 3
9 Penicillin Prophylaxis in Sickle Cell Disease (PROPS) Completed NCT00000585 Phase 3 penicillin
10 Multicenter Study of Hydroxyurea in Patients With Sickle Cell Anemia (MSH) Completed NCT00000586 Phase 3 hydroxyurea
11 Allogeneic Hematopoietic Stem Cell Transplant for Patients With High Risk Hemoglobinopathy Using a Preparative Regimen to Achieve Stable Mixed Chimerism Active, not recruiting NCT00176852 Phase 2, Phase 3 Busulfan, Fludarabine, ATG, TLI;Busulfan, Cyclophosphamide, ATG, GCSF;Campath, Fludarabine, Cyclophosphamide
12 Protocol for the Administration of Hydroxyurea During Painful Vaso-occlusive Crisis in Sickle Cell Anemia Unknown status NCT03062501 Phase 2 Hydroxyurea
13 Phase I/II Pilot Study of Mixed Chimerism to Treat Hemoglobinopathies Completed NCT00777231 Phase 1, Phase 2
14 Effect of Pentoxifylline Administration on Hemoglobin Level of Hemodialysis Patients Completed NCT03731741 Phase 2 Pentoxifylline
15 Allogeneic Stem Cell Transplantation From HLA/MLC Genotype Identical Donors for Patients With High Risk Sickle Cell Disease Completed NCT00186810 Phase 2 Busulfan, Cyclophosphamide, Horse ATG
16 Allogeneic Mixed Chimerism Stem Cell Transplantation Utilizing In Vivo and In Vitro Campath for Hemoglobinopathies and Bone Marrow Failure Syndromes Completed NCT00004143 Phase 2 Campath, Chemo and/or TBI Allo SCT
17 A Phase 1/2 Open Label Study Evaluating the Safety and Efficacy of Gene Therapy of the Beta-Hemoglobinopathies (Sickle Cell Disease and Beta-Thalassemia Major) by Transplantation of Autologous CD34+ Stem Cells Transduced Ex Vivo With a Lentiviral Beta-A-T87Q Globin Vector (LentiGlobin BB305 Drug Product) Completed NCT02151526 Phase 1, Phase 2
18 Reduced Intensity Stem Cell Transplant in Children and Young Adults Utilizing Photopheresis, Fludarabine, and Busulfan Completed NCT00179790 Phase 1, Phase 2
19 Evaluation of Fludarabine, Busulfan and Alemtuzumab as a Reduced Toxicity Ablative Bone Marrow Stem Cell Transplant Regimen for Children With Stem Cell Defects, Marrow Failure Syndromes, or Myelodysplastic Syndrome (MDS)/Leukemia Completed NCT00301834 Phase 2 busulfan;cyclosporine;fludarabine phosphate;methotrexate;methylprednisolone
20 Evaluation of Subcutaneous Desferrioxamine as Treatment for Transfusional Hemochromatosis Completed NCT00000595 Phase 2 deferoxamine
21 Phase I/II Trial Of Hematopoietic Stem Cell Transplant (HSCT) For Children With A Genetic Disease Of Blood Cells Without An HLA-Matched Sibling Donor Completed NCT00730314 Phase 1, Phase 2
22 Effect of Hydroxyurea on the Level of Ineffective Erythropoiesis, Transfusion Requirement, and Fetal Hemoglobin Synthesis in Patients With Beta-Thalassemia-Intermedia Completed NCT00001958 Phase 2 Hydroxyurea
23 Pediatric Hydroxyurea in Sickle Cell Anemia (PED HUG) Completed NCT00000602 Phase 2 hydroxyurea
24 Allogeneic (Allo) Non-Myeloablative Stem Cell Transplantation (SCT) Utilizing Mis-Matched Family Member Stem Cells Purged Using Campath-1H Completed NCT00580034 Phase 2 Campath Purged Non-myeloablative ASCT
25 Allogeneic Non-myeloablative Stem Cell Transplantation Utilizing Matched Family Member Stem Cells Purged Using Campath-1H Completed NCT00578942 Phase 2 Campath Purged Non-myeloablative ASCT
26 Multi-centre, Oral Single Dose Experimental and Modelling Study to Evaluate the Pharmacokinetics of Deferiprone in Patients Aged From 1 Month to Less Than 6 Years of Age Affected by Transfusion-dependent Haemoglobinopathies. Completed NCT01740713 Phase 2 Deferiprone, dose level 1;Deferiprone, dose level 2;Deferiprone, dose level 3
27 Chelation Therapy of Iron Overload With Pyridoxal Isonicotinoyl Hydrazone Completed NCT00000588 Phase 2 chelation therapy
28 A Multiple-dose, Subject- and Investigator-blinded, Placebo-controlled, Parallel Design Study to Assess the Efficacy, Safety and Tolerability of ACZ885 (Canakinumab) in Pediatric and Young Adult Patients With Sickle Cell Anemia Recruiting NCT02961218 Phase 2 Ilaris, Canakinumab;Placebo
29 A Phase 1/2 Study of the Safety and Efficacy of a Single Dose of Autologous CRISPR-Cas9 Modified CD34+ Human Hematopoietic Stem and Progenitor Cells (hHSPCs) in Subjects With Transfusion-Dependent β-Thalassemia Recruiting NCT03655678 Phase 1, Phase 2
30 A Phase 1/2 Study to Evaluate the Safety and Efficacy of a Single Dose of Autologous CRISPR-Cas9 Modified CD34+ Human Hematopoietic Stem and Progenitor Cells (CTX001) in Subjects With Severe Sickle Cell Disease Recruiting NCT03745287 Phase 1, Phase 2
31 Reduced Intensity Conditioning (RIC) Regimen for Patients With Non-malignant Disorders Recruiting NCT01050855 Phase 2 RIC: Distal Campath;RIC:Intermediate Campath;RIC: Mini Busulfan
32 Gene Transfer for Patients With Sickle Cell Disease Using a Gamma Globin Lentivirus Vector: An Open Label Phase I/II Pilot Study Recruiting NCT02186418 Phase 1, Phase 2
33 A Phase I/II Trial of Reduced Intensity Conditioning and Familial HLA-Mismatched Bone Marrow Transplantation in Children With Non-Malignant Disorders Recruiting NCT03128996 Phase 1, Phase 2 RIC regimen;GVHD prophylaxis regimen
34 Clinical Phase II Trial to Compare Treosulfan-based Conditioning Therapy With Busulfan-based Conditioning Prior to Allogeneic Haematopoietic Stem Cell Transplantation (HSCT) in Paediatric Patients With Non-malignant Diseases Recruiting NCT02349906 Phase 2 Treosulfan;Busilvex
35 PEDS024, Phase I/II Feasibility Study of Busulfan Fludarabine and Thiotepa Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation (HSCT) for Children With Non-Malignant Disorders Recruiting NCT03513328 Phase 1, Phase 2 Thiotepa--single daily dose;Thiotepa--escalated dose
36 Allogeneic Hematopoietic Cell Transplantation for Patients With Nonmalignant Inherited Disorders Using a Treosulfan Based Preparative Regimen Recruiting NCT00919503 Phase 2 Cyclosporine;Fludarabine Phosphate;Methotrexate;Mycophenolate Mofetil;Tacrolimus;Treosulfan
37 Acute GVHD Suppression Using Costimulation Blockade to Expand Non-malignant Transplant (ASCENT) Recruiting NCT03924401 Phase 2 Abatacept
38 A Study of Hematopoietic Stem Cell Transplantation (HSCT) in Non-Malignant Disease Using a Reduced-Intensity Preparatory Regime Recruiting NCT00920972 Phase 1, Phase 2 Transplant conditioning regimen of alemtuzumab, fludarabine, and melphalan;Transplant conditioning regimen of hydroxyurea, campath, fludarabine, thiotepa, & melphalan;Transplant conditioning regimen of hydroxyurea, campath, fludarabine, thiotepa, & melphalan;Transplant conditioning regimen of hydroxyurea, campath, fludarabine, thiotepa, & melphalan
39 CD34+ Stem Cell Selection for Patients Receiving a Matched or Partially Matched Family or Unrelated Adult Donor Allogeneic Stem Cell Transplant for Malignant Disease Recruiting NCT02061800 Phase 1, Phase 2 Thiotepa;Cyclophosphamide;Alemtuzumab;Tacrolimus;Melphalan;Busulfan;Fludarabine;Methylprednisolone
40 A Prospective Study of Optimal Cord Selection for Haplo-Cord Transplantation: Targeting the Inherited Paternal Antigen (IPA) and Matching for the Non-Inherited Maternal Antigen (NIMA) Recruiting NCT01810588 Phase 2 Fludarabine;Melphalan;anti-thymocyte globulin (rabbit);Rituximab;Mycophenolate Mofetil;Tacrolimus
41 HLA-Identical Sibling Donor Bone Marrow Transplantation for Individuals With Severe Sickle Cell Disease Using a Reduced Intensity Conditioning Regimen Recruiting NCT02776202 Phase 2 Fludarabine monophosphate
42 ALLOGENEIC HEMATOPOIETIC STEM CELL TRANSPLANTATION (HSCT) IN PATIENTS WITH HIGH RISK HEMOGLOBINOPATHIES LIKE SICKLE CELL DISEASE AND β-THALESSEMIA-MAJOR USING REDUCED INTENSITY CONDITIONING REGIMEN Active, not recruiting NCT02435901 Phase 1, Phase 2 alemtuzumab (Campath IH);Fludarabine;Melphalan;Cyclosporine;Mycophenolate mofetil;Tacrolimus
43 Phase II Extension Study of CaspaCIDe T Cells (BPX-501) From an HLA-partially Matched Family Donor After Negative Selection of TCR αβ+T Cells in Pediatric Patients Affected by Hematological Disorders Active, not recruiting NCT02065869 Phase 1, Phase 2 rimiducid
44 Allogeneic Stem Cell Transplantation of NiCord®, Umbilical Cord Blood-Derived Ex Vivo Expanded Stem and Progenitor Cells, in Patients With Hemoglobinopathies Active, not recruiting NCT01590628 Phase 1, Phase 2 NiCord
45 Phase II Extension Study of CaspaCIDe T Cells (BPX-501) From an HLA-partially Matched Family Donor After Negative Selection of TCR αβ+T Cells in Pediatric Patients Affected by Hematological Disorders Active, not recruiting NCT03301168 Phase 1, Phase 2 AP1903
46 Follow-up of Phase 1/2 Study of CaspaCIDe T Cells (BPX-501) From an HLA-partially Matched Family Donor After Negative Selection of TCR αβ+T Cells in Pediatric Patients Affected by Hematological Disorders Enrolling by invitation NCT03733249 Phase 1, Phase 2 Rimiducid
47 Phase I/II Pilot Study of Mixed Chimerism to Treat Hemoglobinopathies Suspended NCT01419704 Phase 1, Phase 2
48 Allogeneic Stem Cell Transplantation Following Nonmyeloablative Chemotherapy in Patients With Hemoglobinopathies Terminated NCT00034528 Phase 2 Busulfan;Fludarabine;FK506;Prednisone
49 Allogeneic Stem Cell Transplantation of CordIn™, Umbilical Cord Blood-Derived Ex Vivo Expanded Stem and Progenitor Cells, in Patients With Hemoglobinopathies Terminated NCT02504619 Phase 1, Phase 2
50 Allogeneic Bone Marrow Transplant From HLA Identical Related Donors for Patients With High Risk Hemoglobinopathies: Hemoglobin SS, Hemoglobin SC, Hemoglobin SB0/+ Thalassemia, or Homozygous B0/+ Thalassemia or Severe Variants of B0/+ Thalassemia Terminated NCT00040469 Phase 2 Campath -1H;Dilantin;Busulfan;Cyclophosphamide

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, T Cells, Liver, Heart, Endothelial

Publications for Hemoglobinopathy

Articles related to Hemoglobinopathy:

(show top 50) (show all 3988)
# Title Authors PMID Year
1
EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies. 71
25052315 2015
2
Hb Dhonburi (Neapolis) [beta126(H4)Val-->Gly] identified in a family from northern Iran. 71
15658193 2004
3
Initiation codon mutation (ATG --> ATA) of the beta-globin gene causing beta-thalassemia in a Swedish family. 71
7864023 1995
4
Hb Hradec Kralove (Hb HK) or alpha 2 beta 2 115(G17)Ala-->Asp, a severely unstable hemoglobin variant resulting in a dominant beta-thalassemia trait in a Czech family. 71
7693620 1993
5
Hemoglobin Neapolis, beta 126(H4)Val----Gly: a novel beta-chain variant associated with a mild beta-thalassemia phenotype and displaying anomalous stability features. 71
1954392 1991
6
Hemoglobin Redondo [beta 92(F8) His----Asn]: an unstable hemoglobin variant associated with heme loss which occurs in two forms. 71
1951318 1991
7
Hb Isehara (or Hb Redondo) [beta 92 (F8) His----Asn]: an unstable variant with a proximal histidine substitution at the heme contact. 71
1787097 1991
8
Hemoglobin Dhonburi alpha 2 beta 2 126 (H4) Val----Gly: a new unstable beta variant producing a beta-thalassemia intermedia phenotype in association with beta zero-thalassemia. 71
2399911 1990
9
Hb Bruxelles: alpha 2A beta (2)41 or 42(C7 or CD1)Phe deleted. 71
2599881 1989
10
Haemoglobin Freiburg: direct detection by synthetic oligonucleotide probes. 71
3391614 1988
11
A second Australian family with hemoglobin North Shore (beta 134 Val----Glu). 71
3588028 1987
12
Hemoglobin Köln: direct analysis of the gene mutation by synthetic DNA probes. 71
3768534 1986
13
beta 0 thalassemia, a nonsense mutation in man. 71
88735 1979
14
Haemoglobin North Shore-Caracas beta 134 (H12) valine replaced by glutamic acid. 71
891976 1977
15
Identical substitution in Hb Ube-1 and Hb Köln. 71
4514958 1973
16
Unstable haemoglobin Köln disease in members of a Malay family. 71
5079107 1972
17
Hemoglobin Köln disease occurring as a fresh mutation: erythrocyte metabolism and survival. 71
4942314 1971
18
Hemoglobin toulouse alpha 2 beta 2 66 (E 10) LysGlu. Structure and consequences in molecular pathology. 71
5577462 1971
19
Haemoglobin I toulouse: beta-66 (E 10) lys glu: a new abnormal haemoglobin with a mutation localized on the E 10 porphyrin surrounding zone. 71
5791730 1969
20
Haemoglobin Dhofar--a new variant from Southern Arabia. 71
5684629 1968
21
Hemoglobin Gun Hill: deletion of five amino acid residues and impaired heme-globin binding. 71
6038175 1967
22
Haemoglobin sydney: Beta-67 (E11) valine modified to alanine: an emerging pattern of unstable haemoglobins. 71
6050213 1967
23
A West Australian family with a haemolytic disorder associated with haemoglobin Köln. 71
6029950 1967
24
Köln haemoglobinopathy. Further data and a comparison with other hereditary Heinz body anaemias. 71
6067323 1967
25
Hemoglobin Freiburg: abnormal hemoglobin due to deletion of a single amino acid residue. 71
5919752 1966
26
[Hemoglobin Köln disease: familial hypochromic hemolytic anemia with hemoglobin anomaly]. 71
5881530 1965
27
Hemoglobin M disease in Japan. 71
5856115 1965
28
HEREDITARY HEINZ-BODY ANAEMIA, THROMBOCYTOPENIA, AND HAEMOGLOBINOPATHY (HB KOELN) IN A GLASGOW FAMILY. 71
14198723 1964
29
HAEMOGLOBIN GACCA. 71
14197371 1964
30
Hemoglobinopathies in North Africa: a review. 9 38
20113284 2010
31
The complete evaluation of erythrocytosis: congenital and acquired. 9 38
19295544 2009
32
[Genetic resistance to malaria]. 9 38
19566055 2009
33
Newborn screening for non-sickling hemoglobinopathies. 9 38
20008178 2009
34
Two abnormal fetal hemoglobins found in the Sardinian population: the new Hb F-Osilo [(A)gamma119(GH2)Gly-->Ser, GGC > AGC] and Hb F-Paulinia [(G)gamma80(EF4)Asp-->Tyr, GAT > TAT] already described in the Brazilian population. 9 38
19958193 2009
35
Hematological profile of twenty-nine tribal compound cases of hemoglobinopathies and G-6-PD deficiency in rural Orissa. 9 38
18923215 2008
36
[Hemoglobinopathies and glucose-6-phosphate dehydrogenase deficiency in the sub-Saharan immigrant population of the Center and South Maresme region, Catalonia, Spain]. 9 38
18582416 2008
37
Pharmacogenomics and therapeutics of hemoglobinopathies. 9 38
18275000 2008
38
Iron metabolism and malaria. 9 38
18297891 2007
39
HPLC studies in hemoglobinopathies. 9 38
17699975 2007
40
[Neonatal screening of hemoglobinopathies and G6PD deficiency in Catalonia (Spain). Molecular study of sickle cell disease associated with alpha thalassemia and G6PD deficiency]. 9 38
17669331 2007
41
Innovative parameters RET-Y, sTfR, and sTfR-F index in patients with microcytic, hypochromic anemia--their special value for hemoglobinopathies. 9 38
17573284 2007
42
Further identification of Hb G-Coushatta [beta22(B4)Glu-->Ala (GAA-->GCA)] in Thailand by the polymerase chain reaction-single-strand conformation polymorphism technique and by amplification refractory mutation system-polymerase chain reaction. 9 38
17365010 2007
43
HFE gene mutations in Brazilian thalassemic patients. 9 38
17160266 2006
44
Partial correction of murine beta-thalassemia with a gammaretrovirus vector for human gamma-globin. 9 38
16814578 2006
45
Haptoglobin levels are associated with haptoglobin genotype and alpha+ -Thalassemia in a malaria-endemic area. 9 38
16760505 2006
46
[Neonatal screening of hemoglobinopathies and glucose-6-phosphate dehydrogenase in Catalonia. Pilot study in anonymous not related population]. 9 38
16527153 2006
47
Community genetics and dignity in diversity in the Quebec Network of Genetic Medicine. 9 38
16741343 2006
48
Variable efficacy of recombinant human erythropoietin in anemic pregnant women with different forms of heterozygous hemoglobinopathy. 9 38
17119327 2006
49
Where is the weak linkage in the globin chain? 9 38
17722269 2006
50
A young girl with hemolytic anemia and elevated hemoglobin F. 9 38
15486951 2005

Variations for Hemoglobinopathy

ClinVar genetic disease variations for Hemoglobinopathy:

6 (show all 37)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 HBB NM_000518.5(HBB): c.143_146dup (p.Thr51fs) duplication Pathogenic rs35619054 11:5247976-5247979 11:5226746-5226749
2 HBB NM_000518.5(HBB): c.93-2A> C single nucleotide variant Pathogenic rs63750513 11:5248031-5248031 11:5226801-5226801
3 HBB NM_000518.5(HBB): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs34563000 11:5248251-5248251 11:5227021-5227021
4 HBB NM_000518.5(HBB): c.404T> A (p.Val135Glu) single nucleotide variant Pathogenic rs33966761 11:5246868-5246868 11:5225638-5225638
5 HBB NM_000518.5(HBB): c.127_129del (p.Phe43del) deletion Pathogenic rs41417446 11:5247993-5247995 11:5226763-5226765
6 HBB NM_000518.5(HBB): c.257T> C (p.Phe86Ser) single nucleotide variant Pathogenic rs35693898 11:5247865-5247865 11:5226635-5226635
7 HBB NM_000518.5(HBB): c.71_73del (p.Val24del) deletion Pathogenic rs34160180 11:5248180-5248182 11:5226950-5226952
8 HBB NM_000518.5(HBB): c.199A> G (p.Lys67Glu) single nucleotide variant Pathogenic rs34165323 11:5247923-5247923 11:5226693-5226693
9 HBB NM_000518.5(HBB): c.130G> T (p.Glu44Ter) single nucleotide variant Pathogenic rs33922842 11:5247992-5247992 11:5226762-5226762
10 HBB NM_000518.5(HBB): c.51del (p.Lys18fs) deletion Pathogenic rs35662066 11:5248201-5248201 11:5226971-5226971
11 HBB NM_000518.5(HBB): c.36del (p.Thr13fs) deletion Pathogenic rs34856846 11:5248216-5248216 11:5226986-5226986
12 HBB NM_000518.5(HBB): c.45dup (p.Trp16fs) duplication Pathogenic rs35383398 11:5248207-5248207 11:5226977-5226977
13 HBB NM_000518.5(HBB): c.112del (p.Trp38fs) deletion Pathogenic rs63750532 11:5248010-5248010 11:5226780-5226780
14 HBB NM_000518.5(HBB): c.*6C> G single nucleotide variant Pathogenic rs34809925 11:5246822-5246822 11:5225592-5225592
15 HBB NM_000518.5(HBB): c.-29G> A single nucleotide variant Pathogenic rs34704828 11:5248280-5248280 11:5227050-5227050
16 HBB NM_000518.5(HBB): c.295G> A (p.Val99Met) single nucleotide variant Pathogenic rs33933298 11:5247827-5247827 11:5226597-5226597
17 HBB NM_000518.5(HBB): c.176C> G (p.Pro59Arg) single nucleotide variant Pathogenic rs33991472 11:5247946-5247946 11:5226716-5226716
18 HBB NM_000518.4(HBB): c.277C> A (p.His93Asn) single nucleotide variant Pathogenic rs33924775 11:5247845-5247845 11:5226615-5226615
19 HBB NM_000518.5(HBB): c.344T> C (p.Leu115Pro) single nucleotide variant Pathogenic rs36015961 11:5246928-5246928 11:5225698-5225698
20 HBB NM_000518.5(HBB): c.347C> A (p.Ala116Asp) single nucleotide variant Pathogenic rs35485099 11:5246925-5246925 11:5225695-5225695
21 HBB NM_000518.5(HBB): c.70G> A (p.Val24Ile) single nucleotide variant Pathogenic rs33929459 11:5248182-5248182 11:5226952-5226952
22 HBB NM_000518.5(HBB): c.-137C> T single nucleotide variant Pathogenic rs33941377 11:5248388-5248388 11:5227158-5227158
23 HBB NM_000518.5(HBB): c.79G> T (p.Glu27Ter) single nucleotide variant Pathogenic rs33950507 11:5248173-5248173 11:5226943-5226943
24 HBB ; LOC106099062 ; LOC107133510 NM_000518.5(HBB): c.81G> C (p.Glu27Asp) single nucleotide variant Pathogenic 11:5248171-5248171 11:5226941-5226941
25 HBB NM_000518.5(HBB): c.436T> A (p.Tyr146Asn) single nucleotide variant Pathogenic 11:5246836-5246836 11:5225606-5225606
26 HBB NM_000518.5(HBB): c.235del (p.Leu79fs) deletion Pathogenic 11:5247887-5247887 11:5226658-5226658
27 HBB NM_000518.5(HBB): c.82G> T (p.Ala28Ser) single nucleotide variant Pathogenic/Likely pathogenic rs35424040 11:5248170-5248170 11:5226940-5226940
28 HBB NM_000518.5(HBB): c.-137C> A single nucleotide variant Pathogenic/Likely pathogenic rs33941377 11:5248388-5248388 11:5227158-5227158
29 HBB NM_000518.5(HBB): c.114G> A (p.Trp38Ter) single nucleotide variant Pathogenic/Likely pathogenic rs33974936 11:5248008-5248008 11:5226778-5226778
30 HBB NM_000518.5(HBB): c.-138C> A single nucleotide variant Pathogenic/Likely pathogenic rs33944208 11:5248389-5248389 11:5227159-5227159
31 HBB NM_000518.5(HBB): c.85dup (p.Leu29fs) duplication Pathogenic/Likely pathogenic rs35532010 11:5248168-5248168 11:5226938-5226938
32 HBB NM_000518.5(HBB): c.-138C> T single nucleotide variant Pathogenic/Likely pathogenic rs33944208 11:5248389-5248389 11:5227159-5227159
33 HBB NM_000518.5(HBB): c.*113A> G single nucleotide variant Pathogenic/Likely pathogenic rs33985472 11:5246715-5246715 11:5225485-5225485
34 HBB NM_000518.5(HBB): c.380T> G (p.Val127Gly) single nucleotide variant Pathogenic/Likely pathogenic rs33925391 11:5246892-5246892 11:5225662-5225662
35 HBB NM_000518.5(HBB): c.93-15T> G single nucleotide variant Pathogenic/Likely pathogenic rs35456885 11:5248044-5248044 11:5226814-5226814
36 HBB NM_000518.4(HBB): c.374C> G (p.Pro125Arg) single nucleotide variant Likely pathogenic rs33983276 11:5246898-5246898 11:5225668-5225668
37 HBB NM_000518.5(HBB): c.176del (p.Pro59fs) deletion Likely pathogenic 11:5247946-5247946 11:5226718-5226718

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 9.92 PECAM1 HP HFE HBB HBA2 HBA1
2 blood microparticle GO:0072562 9.63 HP HBE1 HBD HBB HBA2 HBA1
3 endocytic vesicle lumen GO:0071682 9.56 HP HBB HBA2 HBA1
4 hemoglobin complex GO:0005833 9.43 HBG1 HBE1 HBD HBB HBA2 HBA1
5 haptoglobin-hemoglobin complex GO:0031838 9.17 HP HBG1 HBE1 HBD HBB HBA2

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 9.8 HP HBB HBA2 HBA1
2 blood coagulation GO:0007596 9.78 HBG1 HBE1 HBD HBB
3 response to organic cyclic compound GO:0014070 9.74 UGT1A1 HBE1 G6PD
4 response to ethanol GO:0045471 9.72 UGT1A1 HAMP G6PD
5 acute-phase response GO:0006953 9.72 UGT1A1 HP HFE HAMP EPO
6 response to hydrogen peroxide GO:0042542 9.71 HP HBB HBA2 HBA1
7 cellular oxidant detoxification GO:0098869 9.7 HP HBG1 HBE1 HBD HBB HBA2
8 positive regulation of cell death GO:0010942 9.67 HP HBB HBA2 HBA1
9 bicarbonate transport GO:0015701 9.63 HBB HBA2 HBA1
10 liver regeneration GO:0097421 9.58 HFE HAMP
11 response to vitamin A GO:0033189 9.58 HAMP EPO
12 response to iron ion GO:0010039 9.56 HFE HAMP
13 protein heterooligomerization GO:0051291 9.56 HBE1 HBB HBA2 HBA1
14 erythrocyte maturation GO:0043249 9.54 G6PD EPO
15 cellular response to peptide GO:1901653 9.52 KLF10 KLF1
16 multicellular organismal iron ion homeostasis GO:0060586 9.51 HFE HAMP
17 response to iron ion starvation GO:1990641 9.43 HFE HAMP
18 hydrogen peroxide catabolic process GO:0042744 9.43 HBG1 HBE1 HBD HBB HBA2 HBA1
19 oxygen transport GO:0015671 9.1 HBG1 HBE1 HBD HBB HBA2 HBA1

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

# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 9.85 HBG1 HBE1 HBD HBB HBA2 HBA1
2 oxygen binding GO:0019825 9.8 HBG1 HBE1 HBD HBB HBA2 HBA1
3 peroxidase activity GO:0004601 9.73 HBG1 HBE1 HBD HBB HBA2 HBA1
4 oxygen carrier activity GO:0005344 9.63 HBG1 HBE1 HBD HBB HBA2 HBA1
5 hemoglobin alpha binding GO:0031721 9.58 HBE1 HBD HBB
6 hemoglobin binding GO:0030492 9.43 HP HBB
7 organic acid binding GO:0043177 9.43 HBG1 HBE1 HBD HBB HBA2 HBA1
8 haptoglobin binding GO:0031720 9.1 HBG1 HBE1 HBD HBB HBA2 HBA1
9 protein binding GO:0005515 10.23 PECAM1 KLF10 KLF1 HP HFE HBE1

Sources for Hemoglobinopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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