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 Binding and Uptake of Ligands by Scavenger Receptors. The drugs Ribavirin and Peginterferon alfa-2a have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and testes, and related phenotypes are hematopoietic system and homeostasis/metabolism

Wikipedia : 74 Hemoglobinopathy is the medical term for a group of blood disorders and diseases that affect red blood... more...

Related Diseases for Hemoglobinopathy

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

(show top 50) (show all 364)
# Related Disease Score Top Affiliating Genes
1 methemoglobinemia, beta-globin type 33.2 LOC106099062 HBB HBA2 HBA1
2 heinz body anemias 33.1 HP HBB HBA2 HBA1
3 hemoglobin e disease 31.5 LOC106099062 HBD HBB
4 hemoglobin c disease 31.3 HBD HBB
5 hydrops fetalis, nonimmune 31.3 HBB HBA2 HBA1
6 sickle cell disease 31.1 VCAM1 HBG1 HBD HBB HBA2 G6PD
7 cholelithiasis 30.9 UGT1A1 HP HBB
8 glucosephosphate dehydrogenase deficiency 30.8 UGT1A1 HP HBB G6PD
9 splenic sequestration 30.7 HP HBB EPO
10 erythrocytosis, familial, 7 30.7 HBA2 HBA1
11 sickle cell anemia 30.7 VCAM1 UGT1A1 HBG1 HBB HBA2 HBA1
12 hemosiderosis 30.6 TFR2 HJV HFE HAMP EPO ALAS2
13 methemoglobinemia 30.6 LOC106099062 HP HBB G6PD
14 bilirubin metabolic disorder 30.5 UGT1A1 HP G6PD
15 fetal hemoglobin quantitative trait locus 1 30.5 LOC106099062 HBG1 HBD HBB
16 thrombotic microangiopathy 30.5 VEGFA HP
17 acute chest syndrome 30.5 VEGFA VCAM1 HBB HBA2 G6PD
18 hemoglobin d disease 30.5 HBD HBB
19 hemoglobin zurich 30.5 LOC106099062 HBB HBA2
20 splenic infarction 30.4 HP HBB
21 polycythemia 30.4 VEGFA HBB HBA2 HAMP EPO
22 hypochromic microcytic anemia 30.3 TFR2 HJV HBB HBA2 HBA1 HAMP
23 iron metabolism disease 30.3 TFR2 HJV HFE HBB HBA2 HAMP
24 plasmodium falciparum malaria 30.2 HP HBB G6PD
25 iron deficiency anemia 30.1 TFR2 HJV HFE HBA1 HAMP G6PD
26 trypanosomiasis 30.1 VCAM1 HP HBB
27 gilbert syndrome 30.0 UGT1A1 HP G6PD
28 hemoglobin h disease 30.0 HBD HBB HBA2 HBA1 HAMP G6PD
29 erythroleukemia, familial 30.0 KLF1 HBG1 HBB EPO
30 hemolytic anemia 30.0 UGT1A1 KLF1 HP HBG1 HBB HBA2
31 sleep apnea 29.9 VEGFA VCAM1 EPO
32 arthropathy 29.9 HJV HFE HAMP
33 beta-thalassemia 29.8 UGT1A1 TFR2 KLF1 HJV HFE HBG1
34 chronic kidney disease 29.8 VEGFA VCAM1 HP HAMP EPO
35 inherited metabolic disorder 29.8 UGT1A1 TFR2 HJV HFE HAMP
36 sideroblastic anemia 29.8 TFR2 HJV HFE HAMP ALAS2
37 deficiency anemia 29.8 TFR2 HP HJV HFE HBB HBA2
38 thalassemia 29.7 UGT1A1 TFR2 LOC106099062 KLF1 HP HJV
39 hereditary spherocytosis 29.7 UGT1A1 KLF1 HP HFE HBG1 HBD
40 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 29.6 TFR2 HP HJV HFE HBB HBA2
41 alpha-thalassemia 29.5 VCAM1 UGT1A1 LOC106099062 KLF1 HP HFE
42 vascular disease 29.4 VEGFA VCAM1 PECAM1 HP EPO
43 microcytic anemia 29.3 TFR2 HJV HFE HBB HBA2 HBA1
44 malaria 29.2 VEGFA VCAM1 PECAM1 HP HBB HBA2
45 hemochromatosis, type 1 29.2 TFR2 HP HJV HFE HBB HBA2
46 diabetes mellitus 29.1 VEGFA VCAM1 PECAM1 HP HFE HBB
47 congenital hemolytic anemia 29.0 KLF1 HP HBG1 HBD HBB HBA2
48 hemoglobinopathy toms river 12.2
49 genetic hemoglobinopathy 12.2
50 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema 11.3

Graphical network of the top 20 diseases related to Hemoglobinopathy:



Diseases related to Hemoglobinopathy

Symptoms & Phenotypes for Hemoglobinopathy

UMLS symptoms related to Hemoglobinopathy:


cyanosis

MGI Mouse Phenotypes related to Hemoglobinopathy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.93 ALAS2 EPO G6PD HBA2 HFE HJV
2 homeostasis/metabolism MP:0005376 9.77 ALAS2 EPO G6PD HBA2 HFE HJV
3 liver/biliary system MP:0005370 9.23 EPO HFE HJV HP KLF1 PECAM1

Drugs & Therapeutics for Hemoglobinopathy

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

(show top 50) (show all 160)
# 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 14219 4091
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 interferons Phase 4
11 Interferon-alpha Phase 4
12 Hypoglycemic Agents Phase 4
13 Chelating Agents Phase 4
14 Iron Chelating Agents Phase 4
15 Cardiac Glycosides Phase 4
16 Glycoside Hydrolase Inhibitors Phase 4
17
Clotrimazole Approved, Vet_approved Phase 3 23593-75-1 2812
18
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
19
Hydroxyurea Approved Phase 3 127-07-1 3657
20
Ambrisentan Approved, Investigational Phase 3 177036-94-1 6918493
21
leucovorin Approved Phase 3 58-05-9 6006 143
22
Deferiprone Approved Phase 3 30652-11-0 2972
23
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
24 Antifungal Agents Phase 3
25 Dermatologic Agents Phase 3
26 Antihypertensive Agents Phase 3
27 Vitamin B Complex Phase 3
28 Folic Acid Antagonists Phase 3
29 Folate Phase 3
30 Vitamin B9 Phase 3
31 penicillins Phase 3
32
Iron Approved, Experimental Phase 2 15438-31-0, 7439-89-6 27284 23925
33
Pentoxifylline Approved, Investigational Phase 2 6493-05-6 4740
34
Macitentan Approved Phase 2 441798-33-0
35
Vidarabine Approved, Investigational Phase 2 24356-66-9 21704 32326
36
rituximab Approved Phase 2 174722-31-7 10201696
37
Methotrexate Approved Phase 1, Phase 2 59-05-2, 1959-05-2 126941
38
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030 46835353
39
Thiotepa Approved, Investigational Phase 1, Phase 2 52-24-4 5453
40
Abatacept Approved Phase 1, Phase 2 332348-12-6 10237
41
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
42
Methylprednisolone hemisuccinate Approved Phase 1, Phase 2 2921-57-5
43
Prednisolone phosphate Approved, Vet_approved Phase 1, Phase 2 302-25-0
44 Prednisolone acetate Approved, Vet_approved Phase 1, Phase 2 52-21-1
45
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
46
Promethazine Approved, Investigational Phase 2 60-87-7 4927
47
Acetaminophen Approved Phase 2 103-90-2 1983
48
Diphenhydramine Approved, Investigational Phase 2 58-73-1, 147-24-0 3100
49
Melphalan Approved Phase 1, Phase 2 148-82-3 460612 4053
50
Dopamine Approved Phase 1, Phase 2 51-61-6, 62-31-7 681

Interventional clinical trials:

(show top 50) (show all 135)
# 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 Allogeneic Hematopoietic Stem Cell Transplant for Patients With High Risk Hemoglobinopathy Using a Preparative Regimen to Achieve Stable Mixed Chimerism Completed NCT00176852 Phase 2, Phase 3 Busulfan, Fludarabine, ATG, TLI;Busulfan, Cyclophosphamide, ATG, GCSF;Campath, Fludarabine, Cyclophosphamide
6 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
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 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
11 Multicenter Study of Hydroxyurea in Patients With Sickle Cell Anemia (MSH) Completed NCT00000586 Phase 3 hydroxyurea
12 Protocol for the Administration of Hydroxyurea During Painful Vaso-occlusive Crisis in Sickle Cell Anemia Unknown status NCT03062501 Phase 2 Hydroxyurea
13 HLA-Identical Sibling Donor Bone Marrow Transplantation for Individuals With Severe Sickle Cell Disease Using a Reduced Intensity Conditioning Regimen Unknown status NCT02776202 Phase 2 Fludarabine monophosphate
14 Phase I/II Pilot Study of Mixed Chimerism to Treat Hemoglobinopathies Completed NCT00777231 Phase 1, Phase 2
15 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 Completed NCT02961218 Phase 2 Ilaris, Canakinumab;Placebo
16 Multi-Center Study Using Allogeneic Stem Cell Transplantation Following Reduced Intensity Chemotherapy in Patients With Hemoglobinopathies Completed NCT00153985 Phase 2 Busulfex;Fludarabine;Alemtuzumab
17 A Phase 1/2 Open Label Study Evaluating the Safety and Efficacy of Gene Therapy of the β-Hemoglobinopathies (Sickle Cell Anemia and β-Thalassemia Major) by Transplantation of Autologous CD34+ Stem Cells Transduced Ex Vivo With a Lentiviral β-A-T87Q Globin Vector (LentiGlobin BB305 Drug Product) Completed NCT02151526 Phase 1, Phase 2 LentiGlobin BB305 Drug Product
18 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
19 Effect of Pentoxifylline Administration on Hemoglobin Level of Hemodialysis Patients Completed NCT03731741 Phase 2 Pentoxifylline
20 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
21 Sibling Donor Cord Blood Banking and Transplantation Completed NCT00029380 Phase 2 Sangstat;Cyclophosphamide;Busulfan;Mycophenolate Mofetil;Cyclosporine
22 Reduced Intensity Stem Cell Transplant in Children and Young Adults Utilizing Photopheresis, Fludarabine, and Busulfan Completed NCT00179790 Phase 1, Phase 2
23 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
24 Evaluation of Subcutaneous Desferrioxamine as Treatment for Transfusional Hemochromatosis Completed NCT00000595 Phase 2 deferoxamine
25 Pediatric Hydroxyurea in Sickle Cell Anemia (PED HUG) Completed NCT00000602 Phase 2 hydroxyurea
26 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
27 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
28 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
29 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
30 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
31 Chelation Therapy of Iron Overload With Pyridoxal Isonicotinoyl Hydrazone Completed NCT00000588 Phase 2 chelation therapy
32 The Safety and Efficacy of Macitentan for Treatment of Pulmonary Hypertension in Sickle Cell Disease Completed NCT02651272 Phase 2 macitentan
33 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
34 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
35 Reduced Intensity Conditioning (RIC) Regimen for Patients With Non-malignant Disorders Recruiting NCT01050855 Phase 2 RIC: Distal Campath;RIC:Intermediate Campath;RIC: Mini Busulfan
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 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
38 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
39 Gene Transfer for Patients With Sickle Cell Disease Using a Gamma Globin Lentivirus Vector: An Open Label Phase 1/2 Pilot Study Recruiting NCT02186418 Phase 1, Phase 2
40 A Study of Hematopoietic Stem Cell Transplantation (HSCT) in Non-Malignant Disease Using a Reduced-Intensity Preparatory Regime Recruiting NCT00920972 Phase 1, Phase 2 Treatment Plan 1: Stratum 1;Treatment Plan 2: Strata 2, 3, or 4;GVHD Regimen A: UCB Recipients;GVHD Regimen B: BM Recipients
41 Acute GVHD Suppression Using Costimulation Blockade to Expand Non-malignant Transplant (ASCENT) Recruiting NCT03924401 Phase 2 Abatacept
42 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
43 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
44 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
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 NCT02065869 Phase 1, Phase 2 rimiducid
46 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
47 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
48 CD34+ Stem Cell Selection for Patients Receiving a Matched or Partially Matched Family or Unrelated Adult Donor Allogeneic Stem Cell Transplantation for Non-Malignant Disease Active, not recruiting NCT01966367 Phase 1, Phase 2
49 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 Active, not recruiting NCT02349906 Phase 2 Treosulfan;Busilvex
50 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

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:

40
Bone, Bone Marrow, Testes, T Cells, Liver, Heart, Endothelial

Publications for Hemoglobinopathy

Articles related to Hemoglobinopathy:

(show top 50) (show all 4152)
# Title Authors PMID Year
1
EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies. 6
25052315 2015
2
Hb Dhonburi (Neapolis) [beta126(H4)Val-->Gly] identified in a family from northern Iran. 6
15658193 2004
3
Initiation codon mutation (ATG --> ATA) of the beta-globin gene causing beta-thalassemia in a Swedish family. 6
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. 6
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. 6
1954392 1991
6
Hemoglobin Redondo [beta 92(F8) His----Asn]: an unstable hemoglobin variant associated with heme loss which occurs in two forms. 6
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. 6
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. 6
2399911 1990
9
Hb Bruxelles: alpha 2A beta (2)41 or 42(C7 or CD1)Phe deleted. 6
2599881 1989
10
Haemoglobin Freiburg: direct detection by synthetic oligonucleotide probes. 6
3391614 1988
11
A second Australian family with hemoglobin North Shore (beta 134 Val----Glu). 6
3588028 1987
12
Hemoglobin Köln: direct analysis of the gene mutation by synthetic DNA probes. 6
3768534 1986
13
beta 0 thalassemia, a nonsense mutation in man. 6
88735 1979
14
Haemoglobin North Shore-Caracas beta 134 (H12) valine replaced by glutamic acid. 6
891976 1977
15
Identical substitution in Hb Ube-1 and Hb Köln. 6
4514958 1973
16
Unstable haemoglobin Köln disease in members of a Malay family. 6
5079107 1972
17
Hemoglobin Köln disease occurring as a fresh mutation: erythrocyte metabolism and survival. 6
4942314 1971
18
Hemoglobin toulouse alpha 2 beta 2 66 (E 10) LysGlu. Structure and consequences in molecular pathology. 6
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. 6
5791730 1969
20
Haemoglobin Dhofar--a new variant from Southern Arabia. 6
5684629 1968
21
Hemoglobin Gun Hill: deletion of five amino acid residues and impaired heme-globin binding. 6
6038175 1967
22
Haemoglobin sydney: Beta-67 (E11) valine modified to alanine: an emerging pattern of unstable haemoglobins. 6
6050213 1967
23
A West Australian family with a haemolytic disorder associated with haemoglobin Köln. 6
6029950 1967
24
Köln haemoglobinopathy. Further data and a comparison with other hereditary Heinz body anaemias. 6
6067323 1967
25
Hemoglobin Freiburg: abnormal hemoglobin due to deletion of a single amino acid residue. 6
5919752 1966
26
[Hemoglobin Köln disease: familial hypochromic hemolytic anemia with hemoglobin anomaly]. 6
5881530 1965
27
Hemoglobin M disease in Japan. 6
5856115 1965
28
HEREDITARY HEINZ-BODY ANAEMIA, THROMBOCYTOPENIA, AND HAEMOGLOBINOPATHY (HB KOELN) IN A GLASGOW FAMILY. 6
14198723 1964
29
HAEMOGLOBIN GACCA. 6
14197371 1964
30
Hemoglobinopathies in North Africa: a review. 54 61
20113284 2010
31
The complete evaluation of erythrocytosis: congenital and acquired. 54 61
19295544 2009
32
[Genetic resistance to malaria]. 54 61
19566055 2009
33
Newborn screening for non-sickling hemoglobinopathies. 54 61
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. 54 61
19958193 2009
35
Hematological profile of twenty-nine tribal compound cases of hemoglobinopathies and G-6-PD deficiency in rural Orissa. 54 61
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]. 54 61
18582416 2008
37
Pharmacogenomics and therapeutics of hemoglobinopathies. 61 54
18275000 2008
38
Iron metabolism and malaria. 61 54
18297891 2007
39
HPLC studies in hemoglobinopathies. 54 61
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]. 61 54
17669331 2007
41
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. 61 54
17365010 2007
42
Innovative parameters RET-Y, sTfR, and sTfR-F index in patients with microcytic, hypochromic anemia--their special value for hemoglobinopathies. 61 54
17573284 2007
43
HFE gene mutations in Brazilian thalassemic patients. 54 61
17160266 2006
44
Partial correction of murine beta-thalassemia with a gammaretrovirus vector for human gamma-globin. 61 54
16814578 2006
45
Haptoglobin levels are associated with haptoglobin genotype and alpha+ -Thalassemia in a malaria-endemic area. 61 54
16760505 2006
46
[Neonatal screening of hemoglobinopathies and glucose-6-phosphate dehydrogenase in Catalonia. Pilot study in anonymous not related population]. 54 61
16527153 2006
47
Where is the weak linkage in the globin chain? 61 54
17722269 2006
48
Community genetics and dignity in diversity in the Quebec Network of Genetic Medicine. 54 61
16741343 2006
49
Variable efficacy of recombinant human erythropoietin in anemic pregnant women with different forms of heterozygous hemoglobinopathy. 54 61
17119327 2006
50
A young girl with hemolytic anemia and elevated hemoglobin F. 54 61
15486951 2005

Variations for Hemoglobinopathy

ClinVar genetic disease variations for Hemoglobinopathy:

6 (show all 37) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HBB NM_000518.5(HBB):c.143_146dup (p.Thr51fs)duplication Pathogenic 439135 rs35619054 11:5247975-5247976 11:5226745-5226746
2 HBB NM_000518.5(HBB):c.93-2A>CSNV Pathogenic 439167 rs63750513 11:5248031-5248031 11:5226801-5226801
3 HBB NM_000518.5(HBB):c.1A>G (p.Met1Val)SNV Pathogenic 439140 rs34563000 11:5248251-5248251 11:5227021-5227021
4 HBB , LOC106099062 , LOC107133510 NM_000518.5(HBB):c.81G>C (p.Glu27Asp)SNV Pathogenic 599394 rs281864581 11:5248171-5248171 11:5226941-5226941
5 HBB NM_000518.5(HBB):c.436T>A (p.Tyr146Asn)SNV Pathogenic 633256 rs33949869 11:5246836-5246836 11:5225606-5225606
6 HBB NM_000518.5(HBB):c.127_129del (p.Phe43del)deletion Pathogenic 15121 rs41417446 11:5247993-5247995 11:5226763-5226765
7 HBB NM_000518.5(HBB):c.257T>C (p.Phe86Ser)SNV Pathogenic 15122 rs35693898 11:5247865-5247865 11:5226635-5226635
8 HBB NM_000518.5(HBB):c.71_73del (p.Val24del)deletion Pathogenic 15166 rs34160180 11:5248179-5248181 11:5226949-5226951
9 HBB NM_000518.5(HBB):c.295G>A (p.Val99Met)SNV Pathogenic 15241 rs33933298 11:5247827-5247827 11:5226597-5226597
10 HBB NM_000518.5(HBB):c.404T>A (p.Val135Glu)SNV Pathogenic 15290 rs33966761 11:5246868-5246868 11:5225638-5225638
11 HBB NM_000518.5(HBB):c.176C>G (p.Pro59Arg)SNV Pathogenic 15398 rs33991472 11:5247946-5247946 11:5226716-5226716
12 HBB NM_000518.5(HBB):c.130G>T (p.Glu44Ter)SNV Pathogenic 15406 rs33922842 11:5247992-5247992 11:5226762-5226762
13 HBB NM_000518.5(HBB):c.51del (p.Lys18fs)deletion Pathogenic 15414 rs35662066 11:5248201-5248201 11:5226971-5226971
14 HBB NM_000518.5(HBB):c.36del (p.Thr13fs)deletion Pathogenic 15423 rs34856846 11:5248216-5248216 11:5226986-5226986
15 HBB NM_000518.5(HBB):c.45dup (p.Trp16fs)duplication Pathogenic 15426 rs35383398 11:5248206-5248207 11:5226976-5226977
16 HBB NM_000518.5(HBB):c.112del (p.Trp38fs)deletion Pathogenic 15431 rs63750532 11:5248010-5248010 11:5226780-5226780
17 HBB NM_000518.4(HBB):c.277C>A (p.His93Asn)SNV Pathogenic 15494 rs33924775 11:5247845-5247845 11:5226615-5226615
18 HBB NM_000518.5(HBB):c.344T>C (p.Leu115Pro)SNV Pathogenic 15513 rs36015961 11:5246928-5246928 11:5225698-5225698
19 HBB NM_000518.5(HBB):c.347C>A (p.Ala116Asp)SNV Pathogenic 15526 rs35485099 11:5246925-5246925 11:5225695-5225695
20 HBB NM_000518.5(HBB):c.70G>A (p.Val24Ile)SNV Pathogenic 478897 rs33929459 11:5248182-5248182 11:5226952-5226952
21 HBB NM_000518.5(HBB):c.*6C>GSNV Pathogenic 393707 rs34809925 11:5246822-5246822 11:5225592-5225592
22 HBB NM_000518.5(HBB):c.-29G>ASNV Pathogenic 393702 rs34704828 11:5248280-5248280 11:5227050-5227050
23 HBB NM_000518.5(HBB):c.-137C>TSNV Pathogenic 36287 rs33941377 11:5248388-5248388 11:5227158-5227158
24 HBB NM_000518.5(HBB):c.79G>T (p.Glu27Ter)SNV Pathogenic 38650 rs33950507 11:5248173-5248173 11:5226943-5226943
25 HBB NM_000518.5(HBB):c.-138C>ASNV Pathogenic/Likely pathogenic 393701 rs33944208 11:5248389-5248389 11:5227159-5227159
26 HBB NM_000518.5(HBB):c.-137C>ASNV Pathogenic/Likely pathogenic 36285 rs33941377 11:5248388-5248388 11:5227158-5227158
27 HBB NM_000518.5(HBB):c.85dup (p.Leu29fs)duplication Pathogenic/Likely pathogenic 15432 rs35532010 11:5248166-5248167 11:5226936-5226937
28 HBB NM_000518.5(HBB):c.-138C>TSNV Pathogenic/Likely pathogenic 15460 rs33944208 11:5248389-5248389 11:5227159-5227159
29 HBB NM_000518.5(HBB):c.*113A>GSNV Pathogenic/Likely pathogenic 15473 rs33985472 11:5246715-5246715 11:5225485-5225485
30 HBB NM_000518.5(HBB):c.380T>G (p.Val127Gly)SNV Pathogenic/Likely pathogenic 15483 rs33925391 11:5246892-5246892 11:5225662-5225662
31 HBB NM_000518.5(HBB):c.114G>A (p.Trp38Ter)SNV Pathogenic/Likely pathogenic 15405 rs33974936 11:5248008-5248008 11:5226778-5226778
32 HBB NM_000518.5(HBB):c.235del (p.Leu79fs)deletion Pathogenic/Likely pathogenic 632846 rs281865475 11:5247887-5247887 11:5226657-5226657
33 HBB NM_000518.5(HBB):c.93-15T>GSNV Pathogenic/Likely pathogenic 550356 rs35456885 11:5248044-5248044 11:5226814-5226814
34 HBB NM_000518.5(HBB):c.82G>T (p.Ala28Ser)SNV Pathogenic/Likely pathogenic 15239 rs35424040 11:5248170-5248170 11:5226940-5226940
35 HBB NM_000518.5(HBB):c.176del (p.Pro59fs)deletion Likely pathogenic 632845 rs35395625 11:5247946-5247946 11:5226716-5226716
36 HBB NM_000518.5(HBB):c.199A>G (p.Lys67Glu)SNV Likely pathogenic 15206 rs34165323 11:5247923-5247923 11:5226693-5226693
37 HBB NM_000518.4(HBB):c.374C>G (p.Pro125Arg)SNV Likely pathogenic 15238 rs33983276 11:5246898-5246898 11:5225668-5225668

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 10 VEGFA VCAM1 PECAM1 HP HJV HFE
2 blood microparticle GO:0072562 9.77 HP HBD HBB HBA2 HBA1
3 HFE-transferrin receptor complex GO:1990712 9.5 TFR2 HJV HFE
4 endocytic vesicle lumen GO:0071682 9.46 HP HBB HBA2 HBA1
5 hemoglobin complex GO:0005833 9.35 HBG1 HBD HBB HBA2 HBA1
6 haptoglobin-hemoglobin complex GO:0031838 9.1 HP HBG1 HBD HBB HBA2 HBA1

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 receptor-mediated endocytosis GO:0006898 9.83 TFR2 HP HBB HBA2 HBA1
2 response to ethanol GO:0045471 9.77 UGT1A1 HAMP G6PD
3 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.75 VEGFA PECAM1 EPO
4 cellular oxidant detoxification GO:0098869 9.73 HP HBG1 HBD HBB HBA2 HBA1
5 cellular iron ion homeostasis GO:0006879 9.72 TFR2 HJV HFE HAMP ALAS2
6 response to hydrogen peroxide GO:0042542 9.71 HP HBB HBA2 HBA1
7 erythrocyte differentiation GO:0030218 9.7 KLF1 EPO ALAS2
8 bicarbonate transport GO:0015701 9.69 HBB HBA2 HBA1
9 iron ion homeostasis GO:0055072 9.67 TFR2 HJV HFE
10 positive regulation of cell death GO:0010942 9.67 HP HBB HBA2 HBA1
11 response to iron ion GO:0010039 9.63 TFR2 HFE HAMP
12 cellular response to peptide GO:1901653 9.59 KLF10 KLF1
13 erythrocyte maturation GO:0043249 9.58 G6PD EPO
14 positive regulation of peptide hormone secretion GO:0090277 9.57 TFR2 HFE
15 multicellular organismal iron ion homeostasis GO:0060586 9.56 HFE HAMP
16 cellular response to iron ion GO:0071281 9.55 TFR2 HFE
17 hydrogen peroxide catabolic process GO:0042744 9.55 HBG1 HBD HBB HBA2 HBA1
18 hemoglobin biosynthetic process GO:0042541 9.54 EPO ALAS2
19 response to iron ion starvation GO:1990641 9.48 HFE HAMP
20 oxygen transport GO:0015671 9.35 HBG1 HBD HBB HBA2 HBA1
21 acute-phase response GO:0006953 9.1 UGT1A1 TFR2 HP HFE HAMP EPO

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

# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 9.8 HBG1 HBD HBB HBA2 HBA1
2 peroxidase activity GO:0004601 9.72 HBG1 HBD HBB HBA2 HBA1
3 oxygen binding GO:0019825 9.65 HBG1 HBD HBB HBA2 HBA1
4 oxygen carrier activity GO:0005344 9.55 HBG1 HBD HBB HBA2 HBA1
5 hemoglobin alpha binding GO:0031721 9.54 HBG1 HBD HBB
6 co-receptor binding GO:0039706 9.48 TFR2 HFE
7 transferrin receptor binding GO:1990459 9.46 HJV HFE
8 hemoglobin binding GO:0030492 9.43 HP HBB
9 organic acid binding GO:0043177 9.35 HBG1 HBD HBB HBA2 HBA1
10 haptoglobin binding GO:0031720 9.02 HBG1 HBD HBB HBA2 HBA1

Sources for Hemoglobinopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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