MCID: HMG005
MIFTS: 52

Hemoglobinopathy malady

Categories: Rare diseases, Blood diseases

Aliases & Classifications for Hemoglobinopathy

Aliases & Descriptions for Hemoglobinopathy:

Name: Hemoglobinopathy 12 50 29 14
Hemoglobinopathies 12 52 3 42 14 69

Classifications:



External Ids:

Disease Ontology 12 DOID:2860
ICD10 33 D58.2
MeSH 42 D006453
NCIt 47 C3092
UMLS 69 C0019045

Summaries for Hemoglobinopathy

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

MalaCards based summary : Hemoglobinopathy, also known as hemoglobinopathies, is related to heinz body anemia and hemoglobin c disease, and has symptoms including cyanosis An important gene associated with Hemoglobinopathy is HBB (Hemoglobin Subunit Beta), and among its related pathways/superpathways are Factors involved in megakaryocyte development and platelet production and Binding and Uptake of Ligands by Scavenger Receptors. The drugs Iron and Hydroxyurea have been mentioned in the context of this disorder. Affiliated tissues include testes, bone and bone marrow, and related phenotype is Increased shRNA abundance (Z-score > 2).

Wikipedia : 71 Hemoglobinopathy is a kind of genetic defect that results in abnormal structure of one of the globin... more...

Related Diseases for Hemoglobinopathy

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

(show top 50) (show all 125)
id Related Disease Score Top Affiliating Genes
1 heinz body anemia 31.5 HBA1 HBA2 HBB HBD HBG1 UGT1A1
2 hemoglobin c disease 29.4 HP TF
3 hepatitis b 29.1 EPO HBA2 HBB HP
4 hemoglobinopathy toms river 11.8
5 methemoglobinemia, beta-globin type 11.0
6 familial avascular necrosis of the femoral head 10.8
7 thalassemia 10.3
8 hypersensitivity pneumonitis, familial 10.3 HBA1 HBA2
9 adult-onset multiple mitochondrial dna deletion syndrome due to dguok deficiency 10.3 HBB HBD
10 ichthyosis, congenital, autosomal recessive 8 10.3 HBA1 HBA2
11 middle ear adenoma 10.3 HBB HBD
12 cardiomyopathy, dilated, 1w 10.3 HBA2 HBB
13 hydrocephalus due to congenital stenosis of aqueduct of sylvius 10.3 HBA1 HBA2
14 chronic laryngitis 10.3 HBA1 HBB
15 paroxysmal nonkinesigenic dyskinesia 2 10.3 HBA1 HBA2
16 pleuropulmonary blastoma 10.3 HBA1 HBA2
17 alzheimer's disease 11 10.3 HBA1 HBA2
18 oxyphilic adenoma 10.3 HBA1 HBB
19 hepatic infarction 10.3 HBB HBD
20 lmna-related cardiocutaneous progeria syndrome 10.3 HBA1 HBA2
21 extrahepatic bile duct papillary adenoma 10.2 HBB HBD
22 michelin tire baby syndrome 10.2 HBA1 HBA2 HBB
23 surfactant metabolism dysfunction, pulmonary, 3 10.2 HBA1 HBA2 HBB
24 endometrial adenocarcinoma 10.2 HBA1 HBB HBD
25 anorectal stricture 10.2 HBA1 HBA2
26 brachydactyly type a1d 10.2 HBB KLF1
27 costello syndrome 10.2 HBB HBD HBG1
28 t-cell large granular lymphocyte leukemia 10.2 HBA1 HBB HBD
29 intracranial structure hemangioma 10.2 HBB HBD
30 sepsis in premature infants 10.1 HBB HBG1 KLF1
31 disseminated intravascular coagulation 10.1 EPO HBA2 KLF1
32 isolated atp synthase deficiency 10.1 HBB HBG1 KLF1
33 hypersensitivity syndrome, carbamazepine-induced 10.1 HBA2 HFE
34 poems syndrome 10.1 EPO TF
35 heparane sulfamidase deficiency 10.1 HBB HP
36 ltbp4-related cutis laxa 10.1 HAMP HFE
37 alcohol-induced mental disorder 10.1 HBA1 TF
38 dermatoleukodystrophy 10.1 HFE TF
39 glycogen storage disease ixa 10.1 HAMP HFE
40 adenosine triphosphate, elevated, of erythrocytes 10.1 EPO HBA2 HFE
41 epileptic encephalopathy, early infantile, 13 10.1 HAMP HBB TF
42 acute liver failure 10.0 EPO HBB HBG1 KLF1
43 vesiculobullous skin disease 10.0 HBA1 PECAM1
44 microphthalmia, syndromic 13 10.0 HBA1 HP
45 gaba-transaminase deficiency 10.0 HBA1 HBA2 HBB HBD HBG1
46 central nervous system leiomyoma 10.0 EPO HAMP TF
47 endometriosis of uterus 10.0 HBB HP UGT1A1
48 membranoproliferative glomerulonephritis 10.0 EPO HAMP TF
49 kaolin pneumoconiosis 10.0 HBB HFE TF
50 harp syndrome 10.0 HFE TF

Graphical network of the top 20 diseases related to Hemoglobinopathy:



Diseases related to Hemoglobinopathy

Symptoms & Phenotypes for Hemoglobinopathy

UMLS symptoms related to Hemoglobinopathy:


cyanosis

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.6 PECAM1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.6 HBA1 HBA2 PECAM1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.6 HBA1 HBA2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.6 PECAM1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.6 PECAM1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.6 HBA1 HBA2 PECAM1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.6 PECAM1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.6 PECAM1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.6 HBA1 HBA2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.6 PECAM1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.6 PECAM1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.6 PECAM1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-56 9.6 PECAM1

Drugs & Therapeutics for Hemoglobinopathy

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

(show top 50) (show all 428)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved Phase 4,Phase 2,Phase 3,Phase 1 7439-89-6 23925
2
Hydroxyurea Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 127-07-1 3657
3
Deferoxamine Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 70-51-9 2973
4
Ribavirin Approved Phase 4,Phase 2 36791-04-5 37542
5
Zoledronic acid Approved Phase 4,Phase 2,Phase 3,Phase 1 118072-93-8 68740
6
Deferiprone Approved Phase 4,Phase 2,Phase 3,Phase 1 30652-11-0 2972
7
Deferasirox Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 201530-41-8 5493381
8
Peginterferon alfa-2a Approved, Investigational Phase 4,Phase 2 198153-51-4 5360545
9
Peginterferon alfa-2b Approved Phase 4 99210-65-8, 215647-85-1
10
Zinc Approved Phase 4,Phase 2,Phase 1 7440-66-6 32051 23994
11
Cyclosporine Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 1 79217-60-0, 59865-13-3 5284373 6435893
12
Methotrexate Approved Phase 4,Phase 2,Phase 1 1959-05-2, 59-05-2 126941
13
Mycophenolic acid Approved Phase 4,Phase 2,Phase 1 24280-93-1 446541
14
Mycophenolate mofetil Approved, Investigational Phase 4,Phase 2,Phase 1 128794-94-5 5281078
15
Morphine Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 57-27-2 5288826
16
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 1 22916-47-8 4189
17
Codeine Approved, Illicit Phase 4,Phase 1,Phase 2 76-57-3 5284371
18
Hydromorphone Approved, Illicit Phase 4,Phase 3,Phase 2 466-99-9 5284570
19
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4,Phase 2 437-38-7 3345
20
Guaifenesin Approved, Vet_approved Phase 4,Phase 1,Phase 2 93-14-1 3516
21
Sofosbuvir Approved Phase 4,Phase 2 1190307-88-0 45375808
22
Ledipasvir Approved Phase 4,Phase 2 1256388-51-8 67505836
23 Zinc sulfate Approved Phase 4,Phase 2,Phase 1 7733-02-0
24
Ibuprofen Approved Phase 4,Phase 2 15687-27-1 3672
25
Metformin Approved Phase 4,Early Phase 1 657-24-9 14219 4091
26
Ketamine Approved, Vet_approved Phase 4,Phase 3,Phase 2 6740-88-1 3821
27
Basiliximab Approved, Investigational Phase 4 152923-56-3, 179045-86-4
28
Desogestrel Approved Phase 4 54024-22-5 40973
29
Etonogestrel Approved, Investigational Phase 4 54048-10-1 40976 6917715
30
Heroin Approved, Illicit Phase 4 561-27-3 5462328
31
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
32
leucovorin Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1 58-05-9 54575, 6560146 143
33
Cholecalciferol Approved, Nutraceutical Phase 4,Phase 2,Phase 1 67-97-0 6221 10883523 5280795
34
Ergocalciferol Approved, Nutraceutical Phase 4,Phase 2,Phase 1 50-14-6 5280793
35
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 59-30-3 6037
36 vitamin d Phase 4,Phase 2,Phase 1
37 interferons Phase 4,Phase 2
38 Chelating Agents Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
39 Heptavalent Pneumococcal Conjugate Vaccine Phase 4,Phase 3,Phase 2
40 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
41 Trace Elements Phase 4,Phase 2,Phase 3,Phase 1
42 Diphosphonates Phase 4,Phase 2,Phase 3,Phase 1
43 Vaccines Phase 4,Phase 3,Phase 2
44 Vitamin B Complex Phase 4,Phase 3,Phase 2,Phase 1
45 Ergocalciferols Phase 4,Phase 2,Phase 1
46 Vitamins Phase 4,Phase 2,Phase 3,Phase 1
47 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
48 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1
49 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Phase 1
50 Interferon-alpha Phase 4,Phase 2

Interventional clinical trials:

(show top 50) (show all 708)
id Name Status NCT ID Phase
1 Interferon and Ribavirin Treatment in Patients With Hemoglobinopathies Unknown status NCT00887081 Phase 4
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
4 Combined Chelation Treatment With Deferiprone and Deferoxamine in Thalassemia Major Unknown status NCT00103753 Phase 4
5 Magnetic Resonance Imaging (MRI) Assessments of the Heart and Liver Iron Load in Patients With Transfusion Induced Iron Overload Completed NCT00673608 Phase 4
6 Zinc Supplementation on Cellular Immunity in Thalassemia Major Completed NCT03117192 Phase 4
7 Future of Spermatogenesis in Men With Sickle Cell Disease Medically Treated Completed NCT01609192 Phase 4
8 Intranasal Fentanyl for Initial Treatment of a Vaso-occlusive Crisis Completed NCT01482091 Phase 4
9 Efficacy Study of the Use of Sequential DFP-DFO Versus DFP Completed NCT00733811 Phase 4
10 Evaluation of Efficacy of Zoledronic Acid in Patients With Haemoglobin Syndromes (Thalassemia and Sicle Cell Anaemia) and Risk of Skeletal Events Completed NCT00346242 Phase 4
11 Pneumococcal Vaccination for Splenectomised Thalassemia Major Patients in Indonesia Completed NCT03095326 Phase 4
12 Evaluation of the Impact of Renal Function on the Pharmacokinetics of SIKLOS ® (DARH) Completed NCT02522104 Phase 4
13 Comparing Acute Pain Management Protocols for Patients With Sickle Cell Disease Completed NCT02222246 Phase 4
14 An Epidemiological Study to Assess Iron Overload Using MRI in Patients With Transfusional Siderosis (TIMES Study) Completed NCT01736540 Phase 4
15 Post Hematopoietic Stem Cell Transplantation Completed NCT01610297 Phase 4
16 Combo Chelation Trial Completed NCT00901199 Phase 4
17 Pilot Study for Patients With Poor Response to Deferasirox Completed NCT00749515 Phase 4
18 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
19 Efficacy Study in Removing Excess Iron From the Heart Completed NCT00105495 Phase 4
20 Intensive Combined Chelation Therapy for Iron-Induced Cardiac Disease in Patients With Thalassemia Major Completed NCT00800761 Phase 4
21 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
22 Pegasys® Plus Ribavirin in Thalassemic Patients With Hepatitis C Virus Infection Completed NCT00707850 Phase 4
23 Evaluating the Efficacy of Deferasirox in Transfusion Dependent Chronic Anaemias (Myelodysplastic Syndrome, Beta-thalassaemia Patients) With Chronic Iron Overload Completed NCT00564941 Phase 4
24 Haploidentical Hematopoietic Stem Cell Transplantation for Patients With Thalassemia Major Recruiting NCT03171831 Phase 4
25 Rejuvesol® Washed RBC in Sickle Cell Patients Requiring Frequent Transfusions Recruiting NCT02731157 Phase 4
26 Efficacy and Safety of Ferriprox® in Patients With Sickle Cell Disease or Other Anemias Recruiting NCT02041299 Phase 4
27 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
28 Sofosbuvir/Ledipasvir for Hepatitis C Genotype 1-6 in Patients With Transfusion-Dependent Thalassemia: An Open Label Trial Recruiting NCT03032666 Phase 4
29 the Potential Immunomodulatory Effects of Spirulina on Thalassemic Children Active, not recruiting NCT02674607 Phase 4
30 Contraception in Women With Sickle Cell Disease Active, not recruiting NCT02594462 Phase 4
31 Risk Clinical Stratification of Sickle Cell Disease in Nigeria, Assessment of Efficacy/Safety of Hydroxyurea Treatment Active, not recruiting NCT02149537 Phase 4
32 Efficacy and Safety Study of Deferasirox in Patients With Non-transfusion Dependent Thalassemia Active, not recruiting NCT01709838 Phase 4
33 Mobile-Directly Observed Therapy on Adherence to Hydroxyurea Enrolling by invitation NCT02844673 Phase 4
34 Long-term Safety and Efficacy of Ferriprox® in Iron Overloaded Patients With Sickle Cell Disease or Other Anemias Enrolling by invitation NCT02443545 Phase 4
35 The Potential Hepatoprotective Effect of Metformin in Patients With Beta Thalassemia Major Not yet recruiting NCT02984475 Phase 4
36 Enhancing Preventive Therapy of Malaria In Children With Sickle Cell Anemia in East Africa (EPiTOMISE) Not yet recruiting NCT03178643 Phase 4
37 A Randomized Phase IV Control Trial of Single High Dose Oral Vitamin D3 in Pediatric Patients Undergoing HSCT Not yet recruiting NCT03176849 Phase 4
38 Ketorolac Versus Ibuprofen to Treat Painful Episodes of Sickle Cell Disease Terminated NCT00115336 Phase 4
39 Ibuprofen and Opioid (Morphine or Diamorphine) for Acute Pain in Sickle Cell Disease - Sickle With Ibuprofen & Morphine Terminated NCT00880373 Phase 4
40 Immunogenicity and Safety Study of Pneumococcal 7-Valent Conjugate Vaccine in Sickle Cell Disease Infants. Terminated NCT00368186 Phase 4
41 Pilot Study on the Effects of Intravenous Ketamine on Acute Pain Crisis in Patients With Sickle Cell Disease Terminated NCT00252122 Phase 4
42 Endothelial Function in Patients With Sickle Cell Anemia Before and After Sildenafil Withdrawn NCT00937144 Phase 4
43 Effect of Deferasirox on Endocrine Complications in Subjects With Transfusion Dependent Thalassemia Withdrawn NCT02069886 Phase 4
44 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
45 Assessment of Opioid Analgesia in Sickle Cell Withdrawn NCT00513864 Phase 4
46 Long-Term Effects of Hydroxyurea in Children With Sickle Cell Anemia (The BABY HUG Follow-up Study) Unknown status NCT00890396 Phase 3
47 An Algorithm to Start Iron Chelation in Minimally Transfused Young Beta-thalassemia Major Patients Unknown status NCT02173951 Phase 2, Phase 3
48 Role of Vitamin C to Augment Iron Chelation With DFP or DFX Unknown status NCT02083575 Phase 2, Phase 3
49 Therapeutic Effect and Safety of Combined Hydroxyurea With Recombinant Human Erythropoietin. Unknown status NCT01624038 Phase 2, Phase 3
50 Zoledronic Acid for the Prevention of Bone Loss Post-bone Marrow Transplantation for Thalassemia Major Patients Unknown status NCT01016093 Phase 2, Phase 3

Search NIH Clinical Center for Hemoglobinopathy

Cochrane evidence based reviews: hemoglobinopathies

Genetic Tests for Hemoglobinopathy

Genetic tests related to Hemoglobinopathy:

id Genetic test Affiliating Genes
1 Hemoglobinopathy 29

Anatomical Context for Hemoglobinopathy

MalaCards organs/tissues related to Hemoglobinopathy:

39
Testes, Bone, Bone Marrow, Lung, Heart, Eye, Spleen

Publications for Hemoglobinopathy

Articles related to Hemoglobinopathy:

(show top 50) (show all 341)
id Title Authors Year
1
Cross-Sectional Study for the Detection of Mutations in the Beta-Globin Gene Among Patients with Hemoglobinopathies in the Bengali Population. ( 27828729 )
2017
2
Thalassemia and hemoglobinopathies in an ethnic minority group in Central Vietnam: implications to health burden and relationship between two ethnic minority groups. ( 28497434 )
2017
3
Hepcidin detects iron deficiency in Sri Lankan adolescents with a high burden of hemoglobinopathy: A diagnostic test accuracy study. ( 27883199 )
2017
4
Ten Years of Routine I+- and I^-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations. ( 26635043 )
2016
5
Animal models of I^-hemoglobinopathies: utility and limitations. ( 27853395 )
2016
6
Prevalence of thalassemia and hemoglobinopathy in eastern India: A 10-year high-performance liquid chromatography study of 119,336 cases. ( 27011683 )
2016
7
Fat Embolism Syndrome Secondary to Bone Marrow Necrosis in Patients with Hemoglobinopathies. ( 27598359 )
2016
8
Hemoglobin E Hemoglobinopathy in an Adult from Assam with Unusual Presentation: A Diagnostic Dilemma. ( 27365922 )
2016
9
A case combined hemoglobinopathy. ( 27728331 )
2016
10
Population Screening for Hemoglobinopathy Profiling: Is the Development of a Microarray Worthwhile? ( 27250938 )
2016
11
Hemoglobinopathy testing: the significance of accuracy and pitfalls in HbA2 determination. ( 27976500 )
2016
12
Seropositivity of Hepatitis B and C among Syrian Multi-transfused Patients with Hemoglobinopathy. ( 27648209 )
2016
13
Hb D: A Not So Rare Hemoglobinopathy. ( 27408416 )
2016
14
Report on Ten Years' Experience of Premarital Hemoglobinopathy Screening at a Center in Antalya, Southern Turkey. ( 27207683 )
2016
15
Evaluation of the V8 E-Class, a Novel Automated Capillary Isoelectric Focusing Instrument for Hemoglobinopathy Screening. ( 27543981 )
2016
16
Hemopoietic stem cell transplantation in thalassemia: a report from the European Society for Blood and Bone Marrow Transplantation Hemoglobinopathy Registry, 2000-2010. ( 26752139 )
2016
17
Therapeutic fetal-globin inducers reduce transcriptional repression in hemoglobinopathy erythroid progenitors through distinct mechanisms. ( 26603726 )
2016
18
Potential use of cord blood for Hb E hemoglobinopathy screening programme using capillary electrophoresis. ( 28028293 )
2016
19
Inspired-expired oxygen gap: an alternative method for oxygen saturation monitoring in a patient with an undiagnosed hemoglobinopathy. ( 26053776 )
2015
20
Hemoglobinopathy in India. ( 25721910 )
2015
21
Diagnosis of a novel hemoglobinopathy of compound heterozygosity of hemoglobin S/hemoglobin Q India. ( 25576799 )
2015
22
Another Rare Unstable Hemoglobinopathy: Hemoglobin Casper/Southampton Associated with Moyamoya Disease. ( 26120320 )
2015
23
Cardiac and Hepatic T2*-Weighted Magnetic Resonance Imaging in Transfusion Dependent Hemoglobinopathy in North West of Iran. ( 26985353 )
2015
24
Immunogenicity of pneumococcal vaccination in a patient with sickle hemoglobinopathy: a case report. ( 26273454 )
2015
25
Red blood cell parameters in antenatal nonsickling hemoglobinopathy screening. ( 25914560 )
2015
26
Hemoglobinopathy or Analytical Interference? ( 26319455 )
2015
27
The Changing Epidemiology of Pediatric Hemoglobinopathy Patients in Northern Alberta, Canada. ( 26422283 )
2015
28
Gilbert syndrome acts as a risk factor of developing gallstone among I^ hemoglobinopathy tunisian patients. ( 26375741 )
2015
29
Hemoglobinopathy Screening in a 15-Year-old Patient With Anemia. ( 26181419 )
2015
30
A novel double heterozygous Hb Fontainebleau/HbD Punjab hemoglobinopathy. ( 26036869 )
2015
31
Titusville hemoglobinopathy presenting as new-onset dyspnea in a young soldier . ( 25630213 )
2014
32
I^-Thalassemia mutations in Western India: outcome of prenatal diagnosis in a hemoglobinopathies project. ( 25222044 )
2014
33
Frequency of beta-thalassemia or beta-hemoglobinopathy carriers simultaneously affected with alpha-thalassemia in Iran. ( 25016698 )
2014
34
Diagnosis of a rare double heterozygous Hb D Punjab/Hb Q India hemoglobinopathy using Sebia capillary zone electrophoresis. ( 25308024 )
2014
35
Hyperhemolysis syndrome in a patient without a hemoglobinopathy, unresponsive to treatment with eculizumab. ( 25257194 )
2014
36
Diagnostic utility of isoelectric focusing and high performance liquid chromatography in neonatal cord blood screening for thalassemia and non-sickling hemoglobinopathies. ( 24095765 )
2014
37
Hemoglobinopathy Screening by Osmotic Fragility Test Based on Flow Cytometer or Naked Eye. ( 25421017 )
2014
38
Induction of fetal hemoglobin as a novel therapeutic strategy for I^-hemoglobinopathy. ( 24694782 )
2014
39
Characterizing a cohort of I+-thalassemia couples collected during screening for hemoglobinopathies: 14 years of an Iranian experience. ( 24826790 )
2014
40
Hemoglobinopathy screening by osmotic fragility test based on flow cytometer or naked eye. ( 25515688 )
2014
41
Evaluation of the Sebia Minicap Flex Piercing capillary electrophoresis for hemoglobinopathy testing. ( 25324031 )
2014
42
Compound heterozygous hemoglobin d-punjab/hemoglobin d-iran: a novel hemoglobinopathy. ( 25332633 )
2014
43
Hepatitis C virus genotypes among multiply transfused hemoglobinopathy patients from Northern Iraq. ( 24678171 )
2014
44
Individualizing fetal hemoglobin augmenting therapy for I^-type hemoglobinopathies patients. ( 25155936 )
2014
45
Efficiency of recombinant erythropoietin administration in hemoglobinopathy H. ( 24523332 )
2014
46
Double heterozygous hemoglobin Q India/hemoglobin D Punjab hemoglobinopathy: Report of two rare cases. ( 24497718 )
2013
47
The Effect of UGT1A1 Promoter Polymorphism in the Development of Hyperbilirubinemia and Cholelithiasis in Hemoglobinopathy Patients. ( 24204915 )
2013
48
Detection of acquired hemoglobinopathy in children with hematological malignancies at disease onset: results form a national referral centre. ( 24096989 )
2013
49
Evaluation of Novel Fetal Hemoglobin Inducer Drugs in Treatment of I^-Hemoglobinopathy Disorders. ( 24505535 )
2013
50
HbSD-Punjab: Clinical and Hematological Profile of a Rare Hemoglobinopathy. ( 24276032 )
2013

Variations for Hemoglobinopathy

ClinVar genetic disease variations for Hemoglobinopathy:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 HBB NM_000518.4(HBB): c.127_129delTTT (p.Phe43del) deletion Pathogenic rs41417446 GRCh37 Chromosome 11, 5247993: 5247995
2 HBB NM_000518.4(HBB): c.257T> C (p.Phe86Ser) single nucleotide variant Pathogenic rs35693898 GRCh37 Chromosome 11, 5247865: 5247865
3 HBB NM_000518.4(HBB): c.70_72delGTT (p.Val24del) deletion Pathogenic rs34160180 GRCh37 Chromosome 11, 5248180: 5248182
4 HBB NM_000518.4(HBB): c.199A> G (p.Lys67Glu) single nucleotide variant Pathogenic rs34165323 GRCh37 Chromosome 11, 5247923: 5247923
5 HBB NM_000518.4(HBB): c.295G> A (p.Val99Met) single nucleotide variant Pathogenic rs33933298 GRCh37 Chromosome 11, 5247827: 5247827
6 HBB NM_000518.4(HBB): c.404T> A (p.Val135Glu) single nucleotide variant Pathogenic rs33966761 GRCh37 Chromosome 11, 5246868: 5246868
7 HBB NM_000518.4(HBB): c.176C> G (p.Pro59Arg) single nucleotide variant Pathogenic rs33991472 GRCh37 Chromosome 11, 5247946: 5247946
8 HBB NM_000518.4(HBB): c.380T> G (p.Val127Gly) single nucleotide variant Pathogenic rs33925391 GRCh37 Chromosome 11, 5246892: 5246892
9 HBB NM_000518.4(HBB): c.277C> A (p.His93Asn) single nucleotide variant Pathogenic rs33924775 GRCh37 Chromosome 11, 5247845: 5247845
10 HBB NM_000518.4(HBB): c.347C> A (p.Ala116Asp) single nucleotide variant Pathogenic rs35485099 GRCh37 Chromosome 11, 5246925: 5246925

Expression for Hemoglobinopathy

Search GEO for disease gene expression data for Hemoglobinopathy.

Pathways for Hemoglobinopathy

GO Terms for Hemoglobinopathy

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

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.98 EPO HAMP HBA1 HBA2 HBB HP
2 extracellular space GO:0005615 9.97 EPO HAMP HBA1 HBA2 HBB HFE
3 blood microparticle GO:0072562 9.73 HBA1 HBA2 HBB HBD HP TF
4 endocytic vesicle lumen GO:0071682 9.46 HBA1 HBA2 HBB HP
5 basal part of cell GO:0045178 9.4 HFE TF
6 HFE-transferrin receptor complex GO:1990712 9.37 HFE TF
7 haptoglobin-hemoglobin complex GO:0031838 9.26 HBA1 HBA2 HBB HP
8 hemoglobin complex GO:0005833 9.02 HBA1 HBA2 HBB HBD HBG1

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

(show all 21)
id Name GO ID Score Top Affiliating Genes
1 receptor-mediated endocytosis GO:0006898 9.78 HBA1 HBA2 HBB HP
2 blood coagulation GO:0007596 9.77 HBB HBD HBG1
3 protein heterooligomerization GO:0051291 9.69 HBA1 HBA2 HBB
4 cellular iron ion homeostasis GO:0006879 9.63 HAMP HFE TF
5 cellular oxidant detoxification GO:0098869 9.62 HBA1 HBA2 HBB HP
6 bicarbonate transport GO:0015701 9.61 HBA1 HBA2 HBB
7 liver regeneration GO:0097421 9.59 HAMP HFE
8 positive regulation of receptor-mediated endocytosis GO:0048260 9.58 HFE TF
9 response to vitamin A GO:0033189 9.58 EPO HAMP
10 response to iron ion GO:0010039 9.57 HAMP HFE
11 positive regulation of tyrosine phosphorylation of Stat5 protein GO:0042523 9.56 EPO PECAM1
12 response to hydrogen peroxide GO:0042542 9.56 HBA1 HBA2 HBB HP
13 cellular response to peptide GO:1901653 9.54 KLF1 KLF10
14 hydrogen peroxide catabolic process GO:0042744 9.54 HBA1 HBA2 HBB
15 multicellular organismal iron ion homeostasis GO:0060586 9.52 HAMP HFE
16 cellular response to iron ion GO:0071281 9.49 HFE TF
17 positive regulation of cell death GO:0010942 9.46 HBA1 HBA2 HBB HP
18 response to iron ion starvation GO:1990641 9.4 HAMP HFE
19 acute-phase response GO:0006953 9.35 EPO HAMP HFE HP UGT1A1
20 oxygen transport GO:0015671 9.02 HBA1 HBA2 HBB HBD HBG1
21 transport GO:0006810 10.09 HBA1 HBA2 HBB HBD HBG1 HFE

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

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

Sources for Hemoglobinopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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