B-THAL
MCID: THL013
MIFTS: 60

Thalassemia, Hispanic Gamma-Delta-Beta (B-THAL) malady

Categories: Genetic diseases, Rare diseases, Immune diseases, Blood diseases, Nephrological diseases, Endocrine diseases

Aliases & Classifications for Thalassemia, Hispanic Gamma-Delta-Beta

Aliases & Descriptions for Thalassemia, Hispanic Gamma-Delta-Beta:

Name: Thalassemia, Hispanic Gamma-Delta-Beta 54 50 13 38
Beta-Thalassemia 54 71 23 50 24 56 66 52 42
Mediterranean Anemia 23 50 24 25 56 66
Beta Thalassemia 12 24 25 66 14 69
Cooley's Anemia 23 50 24 66 3 69
Erythroblastic Anemia 71 50 25 66
Beta Thalassemia Intermedia 50 69
Beta-Thalassemia Intermedia 56 29
Beta-Thalassemia Major 56 29
Thalassemia, Beta Type 25 29
Thalassemias, Beta- 54 50
Thalassemia Minor 66 69
Microcytemia, Beta Type 25
Beta Thalassemia Major 50
Beta Thalassemia Minor 50
Beta-Thalassemia Minor 29
Beta^+^ Thalassemia 69
Thalassemia Major 66
Cooley Anemia 56
B-Thal 66

Characteristics:

Orphanet epidemiological data:

56
beta-thalassemia
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Worldwide),1-9/1000000 (France),1-5/10000 (Europe); Age of onset: Childhood,Infancy; Age of death: adult;
beta-thalassemia intermedia
Inheritance: Autosomal recessive; Age of onset: Childhood;
beta-thalassemia major
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

OMIM 54 613985
Disease Ontology 12 DOID:12241
ICD10 33 D56.1
ICD9CM 35 282.44
MeSH 42 D017086
NCIt 47 C34375
SNOMED-CT 64 191190000 65959000
UMLS via Orphanet 70 C0005283 C0472767
ICD10 via Orphanet 34 D56.1
MESH via Orphanet 43 D017086
UMLS 69 C0005283

Summaries for Thalassemia, Hispanic Gamma-Delta-Beta

OMIM : 54 Beta-thalassemia is characterized by a reduced production of hemoglobin A (HbA, alpha-2/beta-2), which results from the... (613985) more...

MalaCards based summary : Thalassemia, Hispanic Gamma-Delta-Beta, also known as beta-thalassemia, is related to fetal hemoglobin quantitative trait locus 1 and thalassemia-beta, dominant inclusion-body, and has symptoms including muscle weakness, respiratory insufficiency and splenomegaly. An important gene associated with Thalassemia, Hispanic Gamma-Delta-Beta is HBB (Hemoglobin Subunit Beta), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Binding and Uptake of Ligands by Scavenger Receptors. The drugs Deferiprone and Deferoxamine have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and skin, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and hematopoietic system

Disease Ontology : 12 A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin.

Genetics Home Reference : 25 Beta thalassemia is a blood disorder that reduces the production of hemoglobin. Hemoglobin is the iron-containing protein in red blood cells that carries oxygen to cells throughout the body.

NIH Rare Diseases : 50 beta-thalassemia is a blood disorder that reduces the body's production of hemoglobin. low levels of hemoglobin lead to a shortage of mature red blood cells and a lack of oxygen in the body. affected people have anemia, which can cause paleness, weakness, fatigue, and more serious complications. severe beta-thalassemia is called “thalassemia major” or “cooley’s anemia.” thalassemia intermedia is a less severe form. beta-thalassemia is caused by mutations in the hbb gene and is usually inherited in an autosomal recessive manner. people who have only one hbb gene mutation may have no symptoms or develop mild symptoms, and are said to have thalassemia minor. treatment depends on the severity in each person and may include transfusions, folic acid supplementation, iron chelation, and/or bone marrow transplantation (the only definitive cure). last updated: 7/29/2015

CDC : 3 Thalassemia is an inherited (i.e., passed from parents to children through genes) blood disorder caused when the body doesn’t make enough of a protein called hemoglobin, an important part of red blood cells. Thalassemia is a treatable disorder that can be well-managed with blood transfusions and chelation therapy. It is important for people with thalassemia to learn how to stay healthy.

UniProtKB/Swiss-Prot : 66 Beta-thalassemia: A form of thalassemia. Thalassemias are common monogenic diseases occurring mostly in Mediterranean and Southeast Asian populations. The hallmark of beta-thalassemia is an imbalance in globin-chain production in the adult HbA molecule. Absence of beta chain causes beta(0)-thalassemia, while reduced amounts of detectable beta globin causes beta(+)-thalassemia. In the severe forms of beta-thalassemia, the excess alpha globin chains accumulate in the developing erythroid precursors in the marrow. Their deposition leads to a vast increase in erythroid apoptosis that in turn causes ineffective erythropoiesis and severe microcytic hypochromic anemia. Clinically, beta-thalassemia is divided into thalassemia major which is transfusion dependent, thalassemia intermedia (of intermediate severity), and thalassemia minor that is asymptomatic.

GeneReviews: NBK1426

Related Diseases for Thalassemia, Hispanic Gamma-Delta-Beta

Diseases related to Thalassemia, Hispanic Gamma-Delta-Beta via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 79)
id Related Disease Score Top Affiliating Genes
1 fetal hemoglobin quantitative trait locus 1 32.0 BCL11A EPO HBA1 HBA2 HBB HBG1
2 thalassemia-beta, dominant inclusion-body 29.7 AHSP BCL11A EPO GATA1 HBA1 HBA2
3 sickle beta thalassemia 12.6
4 thrombocytopenia with beta-thalassemia, x-linked 12.4
5 hemoglobin s beta-thalassemia 12.2
6 hemoglobin e-beta-thalassemia syndrome 12.1
7 hemoglobin c-beta-thalassemia syndrome 12.1
8 hemoglobin lepore-beta-thalassemia syndrome 12.1
9 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome 12.1
10 sickle delta beta thalassemia 12.0
11 gata1-related thrombocytopenia with beta-thalassemia 12.0
12 thalassemia major 11.6
13 thalassemia minor 10.9
14 cardiomyopathy, dilated, 1w 10.3 HBA2 HBB
15 dermatoleukodystrophy 10.3 HFE TF
16 ltbp4-related cutis laxa 10.3 HFE TFR2
17 adult-onset multiple mitochondrial dna deletion syndrome due to dguok deficiency 10.3 HBB HBD
18 spinocerebellar ataxia 18 10.3 HFE TFR2
19 disseminated intravascular coagulation 10.3 EPO HBA2 KLF1
20 pyloric stenosis, infantile hypertrophic, 4 10.3 EPO GATA1
21 middle ear adenoma 10.3 HBB HBD
22 irf6-related disorders 10.3 HFE TFR2
23 distal spinal muscular atrophy 4 10.3 GATA1 HBD
24 insensitivity to pain, congenital, with anhidrosis 10.2 GATA1 KLF1
25 glycogen storage disease ixa 10.2 HFE TFR2
26 aarskog-scott syndrome 10.2 HBB TFR2 TFRC
27 renal tubular acidosis, distal, ar 10.2 GATA1 KLF1
28 intestinal impaction 10.2 EPO HBB TFRC
29 poems syndrome 10.2 EPO TF TFRC
30 endometriosis of uterus 10.2 HBB HBG2 UGT1A1
31 sepsis in premature infants 10.2 HBB HBG1 HBG2 KLF1
32 intestinal tuberculosis 10.2 GATA1 HFE TF
33 mandibuloacral dysplasia with type b lipodystrophy 10.2 HFE TF TFRC
34 episcleritis periodica fugax 10.2 EPO HBB HFE TF
35 brachydactyly type a1d 10.1 GATA1 HBB HBE1 KLF1
36 kaolin pneumoconiosis 10.1 HBB HFE TF TFRC
37 cat-scratch disease 10.1 EPO HBA2 TF TFRC
38 acute liver failure 10.1 EPO GATA1 HBB HBG1 KLF1
39 hypersensitivity pneumonitis, familial 10.1 HBA1 HBA2
40 costello syndrome 10.1 HBB HBD HBG1 HBG2
41 esophageal leukoplakia 10.1 HFE TF TFR2 TFRC
42 facial paresis, hereditary congenital, 1 10.1 HFE TF TFR2 TFRC
43 ichthyosis, congenital, autosomal recessive 8 10.1 HBA1 HBA2
44 hepatic infarction 10.1 HBB HBD
45 hydrocephalus due to congenital stenosis of aqueduct of sylvius 10.1 HBA1 HBA2
46 nasu-hakola disease 10.1 HFE TF TFR2 TFRC
47 hypersensitivity syndrome, carbamazepine-induced 10.1 HBA2 HFE
48 adenosine triphosphate, elevated, of erythrocytes 10.1 EPO GATA1 HBA2 HBG2 HFE
49 tmem231-related joubert syndrome 10.1 HBA2 HBB HFE TF TFRC
50 thalassemia 10.1

Graphical network of the top 20 diseases related to Thalassemia, Hispanic Gamma-Delta-Beta:



Diseases related to Thalassemia, Hispanic Gamma-Delta-Beta

Symptoms & Phenotypes for Thalassemia, Hispanic Gamma-Delta-Beta

Clinical features from OMIM:

613985

Human phenotypes related to Thalassemia, Hispanic Gamma-Delta-Beta:

56 32 (show top 50) (show all 62)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 56 32 Frequent (79-30%),Frequent (79-30%) HP:0001324
2 respiratory insufficiency 56 32 Frequent (79-30%) HP:0002093
3 splenomegaly 56 32 Very frequent (99-80%),Very frequent (99-80%) HP:0001744
4 hepatomegaly 56 32 Frequent (79-30%),Frequent (79-30%),Frequent (79-30%) HP:0002240
5 hypertrophic cardiomyopathy 56 32 Occasional (29-5%) HP:0001639
6 hepatitis 56 32 Occasional (29-5%) HP:0012115
7 pallor 56 32 Very frequent (99-80%),Very frequent (99-80%) HP:0000980
8 irritability 56 32 Frequent (79-30%) HP:0000737
9 reduced bone mineral density 56 32 Frequent (79-30%) HP:0004349
10 hypogonadotrophic hypogonadism 56 32 Frequent (79-30%) HP:0000044
11 abnormality of the skeletal system 56 32 Very frequent (99-80%),Very frequent (99-80%) HP:0000924
12 abnormality of the skull 56 32 Frequent (79-30%),Frequent (79-30%) HP:0000929
13 cholelithiasis 56 32 Occasional (29-5%),Frequent (79-30%),Frequent (79-30%) HP:0001081
14 thrombocytopenia 56 32 Occasional (29-5%) HP:0001873
15 microcytic anemia 56 32 Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0001935
16 abnormality of temperature regulation 56 32 Frequent (79-30%) HP:0004370
17 venous thrombosis 56 32 Occasional (29-5%),Occasional (29-5%),Occasional (29-5%) HP:0004936
18 abnormality of iron homeostasis 56 32 Frequent (79-30%) HP:0011031
19 abnormal hemoglobin 56 32 Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0011902
20 skin ulcer 56 32 Occasional (29-5%),Occasional (29-5%),Occasional (29-5%) HP:0200042
21 increased serum ferritin 56 32 Frequent (79-30%),Frequent (79-30%) HP:0003281
22 neoplasm of the liver 56 32 Occasional (29-5%),Occasional (29-5%) HP:0002896
23 arthralgia 56 Occasional (29-5%)
24 dyspnea 56 Frequent (79-30%)
25 fever 56 Frequent (79-30%)
26 genu valgum 56 Frequent (79-30%)
27 depression 56 Frequent (79-30%)
28 diabetes mellitus 56 Occasional (29-5%)
29 hypothyroidism 56 Occasional (29-5%)
30 hearing impairment 56 Occasional (29-5%)
31 cataract 56 Occasional (29-5%)
32 skeletal dysplasia 56 Occasional (29-5%)
33 depressed nasal bridge 56 Frequent (79-30%)
34 abnormality of the teeth 56 Frequent (79-30%)
35 malabsorption 56 Frequent (79-30%)
36 visual impairment 56 Occasional (29-5%)
37 delayed puberty 56 Frequent (79-30%)
38 osteoporosis 56 Frequent (79-30%)
39 arrhythmia 56 Occasional (29-5%)
40 anemia 56 Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%)
41 pulmonary hypertension 56 Occasional (29-5%),Occasional (29-5%)
42 feeding difficulties 56 Frequent (79-30%)
43 abnormality of the thorax 56 Occasional (29-5%)
44 anxiety 56 Frequent (79-30%)
45 elevated hepatic transaminases 56 Occasional (29-5%)
46 cirrhosis 56 Occasional (29-5%)
47 cardiomyopathy 56 Occasional (29-5%)
48 jaundice 56 Frequent (79-30%)
49 hypersplenism 56 Very frequent (99-80%)
50 night blindness 56 Occasional (29-5%)

GenomeRNAi Phenotypes related to Thalassemia, Hispanic Gamma-Delta-Beta according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.58 HBG1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.58 HBE1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.58 HBG1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 9.58 HBA1 HBA2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-193 9.58 HBG1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.58 HBE1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.58 HBG1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-28 9.58 HBG1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.58 HBA1 HBA2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 9.58 HBG1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.58 HBA1 HBA2 HBE1 HBG1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-77 9.58 HBG1
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 9.58 HBG1

MGI Mouse Phenotypes related to Thalassemia, Hispanic Gamma-Delta-Beta:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.32 BCL11A EPO GATA1 HFE KLF1 RHD

Drugs & Therapeutics for Thalassemia, Hispanic Gamma-Delta-Beta

Drugs for Thalassemia, Hispanic Gamma-Delta-Beta (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 194)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Deferiprone Approved Phase 4,Phase 2,Phase 3,Phase 1 30652-11-0 2972
2
Deferoxamine Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 70-51-9 2973
3
Iron Approved Phase 4,Phase 2,Phase 3,Phase 1 7439-89-6 23925
4
Peginterferon alfa-2a Approved, Investigational Phase 4 198153-51-4 5360545
5
Peginterferon alfa-2b Approved Phase 4 99210-65-8, 215647-85-1
6
Ribavirin Approved Phase 4 36791-04-5 37542
7
Deferasirox Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 201530-41-8 5493381
8
Zinc Approved Phase 4 7440-66-6 32051 23994
9 Zinc sulfate Approved Phase 4 7733-02-0
10
Cyclosporine Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 1 79217-60-0, 59865-13-3 5284373 6435893
11
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 1 22916-47-8 4189
12
Mycophenolate mofetil Approved, Investigational Phase 4,Phase 2,Phase 1 128794-94-5 5281078
13
Mycophenolic acid Approved Phase 4,Phase 2,Phase 1 24280-93-1 446541
14
Basiliximab Approved, Investigational Phase 4 152923-56-3, 179045-86-4
15
Methotrexate Approved Phase 4 1959-05-2, 59-05-2 126941
16
Metformin Approved Phase 4 657-24-9 14219 4091
17
Cholecalciferol Approved, Nutraceutical Phase 4 67-97-0 6221 10883523 5280795
18
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
19
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
20
leucovorin Approved, Nutraceutical Phase 4 58-05-9 54575, 6560146 143
21 Chelating Agents Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
22 Iron Chelating Agents Phase 4,Phase 2,Phase 3,Phase 1
23 Heptavalent Pneumococcal Conjugate Vaccine Phase 4
24 Vaccines Phase 4
25 Bone Density Conservation Agents Phase 4,Phase 2,Phase 3
26 Calcium, Dietary Phase 4,Phase 2,Phase 3
27 Ergocalciferols Phase 4
28 Micronutrients Phase 4,Phase 2,Phase 3,Phase 1
29 Trace Elements Phase 4,Phase 2,Phase 3,Phase 1
30 vitamin d Phase 4
31 Vitamins Phase 4,Phase 2,Phase 3
32 Anti-Infective Agents Phase 4,Phase 2,Phase 1
33 Antimetabolites Phase 4,Phase 2,Phase 1
34 Antiviral Agents Phase 4,Phase 2,Phase 1
35 Interferon-alpha Phase 4
36 interferons Phase 4
37 Liver Extracts Phase 4,Phase 2,Phase 3,Phase 1
38 Antimetabolites, Antineoplastic Phase 4,Phase 2,Phase 1
39 Immunosuppressive Agents Phase 4,Phase 2,Phase 1
40 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 2,Phase 3,Phase 1
41 Astringents Phase 4
42 Dermatologic Agents Phase 4,Phase 2,Phase 1
43 Anti-Bacterial Agents Phase 4,Phase 2,Phase 1
44 Antibiotics, Antitubercular Phase 4,Phase 2,Phase 1
45 Antifungal Agents Phase 4,Phase 2,Phase 1
46 Antirheumatic Agents Phase 4,Phase 2,Phase 1
47 Calcineurin Inhibitors Phase 4,Phase 2,Phase 1
48 Antibodies Phase 4
49 Antibodies, Monoclonal Phase 4
50 Folic Acid Antagonists Phase 4

Interventional clinical trials:

(show top 50) (show all 176)
id Name Status NCT ID Phase
1 Combined Chelation Treatment With Deferiprone and Deferoxamine in Thalassemia Major Unknown status NCT00103753 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 Interferon and Ribavirin Treatment in Patients With Hemoglobinopathies Unknown status NCT00887081 Phase 4
5 Evaluating the Efficacy of Deferasirox in Transfusion Dependent Chronic Anaemias (Myelodysplastic Syndrome, Beta-thalassaemia Patients) With Chronic Iron Overload Completed NCT00564941 Phase 4
6 Post Hematopoietic Stem Cell Transplantation Completed NCT01610297 Phase 4
7 Efficacy Study of the Use of Sequential DFP-DFO Versus DFP Completed NCT00733811 Phase 4
8 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
9 Pneumococcal Vaccination for Splenectomised Thalassemia Major Patients in Indonesia Completed NCT03095326 Phase 4
10 Intensive Combined Chelation Therapy for Iron-Induced Cardiac Disease in Patients With Thalassemia Major Completed NCT00800761 Phase 4
11 Zinc Supplementation on Cellular Immunity in Thalassemia Major Completed NCT03117192 Phase 4
12 Efficacy Study in Removing Excess Iron From the Heart Completed NCT00105495 Phase 4
13 Pilot Study for Patients With Poor Response to Deferasirox Completed NCT00749515 Phase 4
14 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
15 Haploidentical Hematopoietic Stem Cell Transplantation for Patients With Thalassemia Major Recruiting NCT03171831 Phase 4
16 the Potential Immunomodulatory Effects of Spirulina on Thalassemic Children Active, not recruiting NCT02674607 Phase 4
17 The Potential Hepatoprotective Effect of Metformin in Patients With Beta Thalassemia Major Not yet recruiting NCT02984475 Phase 4
18 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
19 An Algorithm to Start Iron Chelation in Minimally Transfused Young Beta-thalassemia Major Patients Unknown status NCT02173951 Phase 2, Phase 3
20 Zoledronic Acid for the Prevention of Bone Loss Post-bone Marrow Transplantation for Thalassemia Major Patients Unknown status NCT01016093 Phase 2, Phase 3
21 Therapeutic Effects of Silymarin in Patients With B-thalassemia Major Unknown status NCT00999349 Phase 2, Phase 3
22 Therapeutic Effect and Safety of Combined Hydroxyurea With Recombinant Human Erythropoietin. Unknown status NCT01624038 Phase 2, Phase 3
23 Role of Vitamin C to Augment Iron Chelation With DFP or DFX Unknown status NCT02083575 Phase 2, Phase 3
24 Study Of Efficacy,Safety of Combined Deferasirox and Deferiprone Versus Combined Deferiprone and Desferal In Conditions of Iron Overload Unknown status NCT01511848 Phase 2, Phase 3
25 Effect of Iron Depletion by Phlebotomy Plus Lifestyle Changes vs. Lifestyle Changes Alone on Liver Damage in Patients With Nonalcoholic Fatty Liver Disease With Increased Iron Stores Unknown status NCT00658164 Phase 3
26 An Extension Study of Iron Chelation Therapy With Deferasirox (ICL670) in β-thalassemia Patients With Transfusional Iron Overload Completed NCT00171210 Phase 3
27 A Study of Long-term Treatment With Deferasirox in Patients With Beta-thalassemia and Transfusional Hemosiderosis Completed NCT00171171 Phase 3
28 Safety & Efficacy of ICL670 vs. Deferoxamine in Beta-thalassemia Patients With Iron Overload Due to Blood Transfusions Completed NCT00061750 Phase 3
29 Amlodipine Use in the Prevention and Treatment of Iron Overload in Patients With Thalassemia Major Completed NCT01125254 Phase 2, Phase 3
30 Amlodipine in the Prevention and Treatment of Iron Overload in Patients With Thalassemia Major Completed NCT01395199 Phase 3
31 Effect of Metoprolol on Thalassemia Cardiomyopathy Completed NCT01863173 Phase 2, Phase 3
32 Efficacy and Safety of the Iron Chelator Deferiprone in Parkinson's Disease Completed NCT00943748 Phase 2, Phase 3
33 Safety and Efficacy of Deferasirox in Patients With Transfusion Dependent Iron Overload - a Non-comparative Extension Study Completed NCT01033747 Phase 2, Phase 3
34 A Study Evaluating the Efficacy and Safety of the LentiGlobin® BB305 Drug Product in Subjects With Transfusion-Dependent β-Thalassemia Recruiting NCT02906202 Phase 3
35 Study to Evaluate Efficacy and Safety of S303 Treated Red Blood Cells (RBCs)in Subjects With Thalassemia Major Requiring Chronic RBC Transfusion Active, not recruiting NCT01740531 Phase 3
36 An Efficacy and Safety Study of Luspatercept (ACE-536) Versus Placebo in Adults Who Require Regular Red Blood Cell Transfusions Due to Beta (β) Thalassemia Active, not recruiting NCT02604433 Phase 3
37 Efficacy/Safety Study of Deferiprone Compared to Deferasirox in Paediatric Patients Active, not recruiting NCT01825512 Phase 3
38 Denosumab Versus Zoledronic Acid in Thalassemia-Induced Osteoporosis Not yet recruiting NCT03040765 Phase 3
39 Iron Balance Study of Deferasirox, Deferoxamine and the Combination of Both Unknown status NCT00738413 Phase 1, Phase 2
40 Reduced Intensity Transplant Conditioning Regimen for Severe Thalassemia Unknown status NCT01005576 Phase 2
41 Trial of HQK-1001 in Beta Thalassemia Intermedia in Lebanon Completed NCT01642758 Phase 2
42 Cardiac T2* in Beta-thalassemia Patients on Deferasirox Treatment Completed NCT00447694 Phase 2
43 Iron Balance Study of DFO and GT56-252 in Patients With Transfusional Iron Overload Secondary to Beta-Thalassemia Completed NCT00069862 Phase 1, Phase 2
44 Study of SDMB (2,2 Dimethylbutyrate, Sodium Salt) in Beta Thalassemia Intermedia in Thailand Completed NCT01609595 Phase 2
45 Phase 1/2 Study of HQK-1001 in Patients With Beta Thalassemia Completed NCT00790127 Phase 1, Phase 2
46 Combination Therapy of Hydroxyurea With L-Carnitine and Magnesium Chloride in Thalassemia Intermedia Completed NCT00809042 Phase 2
47 Hydroxyurea to Treat Beta-Thalassemia (Cooley's Anemia) Completed NCT00001958 Phase 2
48 Study to Evaluate the Effects of ACE-536 in Patients With Beta-thalassemia Completed NCT01749540 Phase 2
49 A 4-year Extension Study to Core 1-year Study of Iron Chelation Therapy With Deferasirox in β-thalassemia Major Pediatric Patients With Transfusional Iron Overload. Completed NCT00390858 Phase 2
50 Safety and Efficacy of Deferasirox in Combination With Desferoxamine in β-thalassaemia Patients With Severe Cardiac Iron Overload Completed NCT01459718 Phase 2

Search NIH Clinical Center for Thalassemia, Hispanic Gamma-Delta-Beta

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: beta-thalassemia

Genetic Tests for Thalassemia, Hispanic Gamma-Delta-Beta

Genetic tests related to Thalassemia, Hispanic Gamma-Delta-Beta:

id Genetic test Affiliating Genes
1 Beta Thalassemia 29
2 Beta Thalassemia Major 29
3 Beta Thalassemia Minor 29
4 Beta Thalassemia Intermedia 29
5 Beta-Thalassemia 24 HBB

Anatomical Context for Thalassemia, Hispanic Gamma-Delta-Beta

MalaCards organs/tissues related to Thalassemia, Hispanic Gamma-Delta-Beta:

39
Bone, Bone Marrow, Skin, Liver, Pituitary, Hypothalamus

Publications for Thalassemia, Hispanic Gamma-Delta-Beta

Variations for Thalassemia, Hispanic Gamma-Delta-Beta

UniProtKB/Swiss-Prot genetic disease variations for Thalassemia, Hispanic Gamma-Delta-Beta:

66
id Symbol AA change Variation ID SNP ID
1 HBB p.Glu27Lys VAR_002907 rs33950507
2 HBB p.Ala116Asp VAR_003037 rs35485099
3 HBB p.Val127Gly VAR_003056 rs33925391
4 HBB p.Leu115Pro VAR_010145 rs36015961

ClinVar genetic disease variations for Thalassemia, Hispanic Gamma-Delta-Beta:

6 (show top 50) (show all 92)
id Gene Variation Type Significance SNP ID Assembly Location
1 HBB NM_000518.4(HBB): c.364G> C (p.Glu122Gln) single nucleotide variant Pathogenic rs33946267 GRCh37 Chromosome 11, 5246908: 5246908
2 HBB HBB, 2-BP INS, 25TA insertion Pathogenic
3 HBB HBB, 1-BP DEL, C deletion Pathogenic
4 HBB NM_000518.4(HBB): c.79G> A (p.Glu27Lys) single nucleotide variant Pathogenic,protective rs33950507 GRCh37 Chromosome 11, 5248173: 5248173
5 HBB NM_000518.4(HBB): c.92G> C (p.Arg31Thr) single nucleotide variant Pathogenic rs33960103 GRCh37 Chromosome 11, 5248160: 5248160
6 HBB NM_000518.4(HBB): c.82G> T (p.Ala28Ser) single nucleotide variant Pathogenic/Likely pathogenic rs35424040 GRCh37 Chromosome 11, 5248170: 5248170
7 HBB NM_000518.4(HBB): c.59A> G (p.Asn20Ser) single nucleotide variant Pathogenic rs33972047 GRCh37 Chromosome 11, 5248193: 5248193
8 HBB NM_000518.4(HBB): c.364G> A (p.Glu122Lys) single nucleotide variant Pathogenic rs33946267 GRCh37 Chromosome 11, 5246908: 5246908
9 HBB NM_000518.4(HBB): c.20A> T (p.Glu7Val) single nucleotide variant Pathogenic,protective rs334 GRCh37 Chromosome 11, 5248232: 5248232
10 HBB NM_000518.4(HBB): c.328G> A (p.Val110Met) single nucleotide variant Likely pathogenic rs33969677 GRCh37 Chromosome 11, 5246944: 5246944
11 HBB NM_000518.4(HBB): c.332T> C (p.Leu111Pro) single nucleotide variant Pathogenic rs35256489 GRCh37 Chromosome 11, 5246940: 5246940
12 HBB NM_000518.4(HBB): c.52A> T (p.Lys18Ter) single nucleotide variant Pathogenic rs33986703 GRCh37 Chromosome 11, 5248200: 5248200
13 HBB NM_000518.4(HBB): c.118C> T (p.Gln40Ter) single nucleotide variant Pathogenic rs11549407 GRCh37 Chromosome 11, 5248004: 5248004
14 HBB NM_000518.4(HBB): c.114G> A (p.Trp38Ter) single nucleotide variant Pathogenic/Likely pathogenic rs33974936 GRCh37 Chromosome 11, 5248008: 5248008
15 HBB NM_000518.4(HBB): c.383_385delAGG (p.Gln128_Ala129delinsPro) deletion Pathogenic rs34502690 GRCh37 Chromosome 11, 5246887: 5246889
16 HBB NM_000518.4(HBB): c.182T> A (p.Val61Glu) single nucleotide variant Pathogenic rs33931779 GRCh37 Chromosome 11, 5247940: 5247940
17 HBB NM_000518.4(HBB): c.25_26delAA (p.Lys9Valfs) deletion Pathogenic rs35497102 GRCh37 Chromosome 11, 5248226: 5248227
18 HBB NM_000518.4(HBB): c.51delC (p.Lys18Argfs) deletion Pathogenic rs35662066 GRCh37 Chromosome 11, 5248201: 5248201
19 HBB NM_000518.4(HBB): c.135delC (p.Phe46Leufs) deletion Pathogenic rs80356820 GRCh37 Chromosome 11, 5247987: 5247987
20 HBB NM_000518.4(HBB): c.126_129delCTTT (p.Phe42fs) deletion Pathogenic rs80356821 GRCh37 Chromosome 11, 5247993: 5247996
21 HBB NM_000518.4(HBB): c.230delC (p.Ala77Valfs) deletion Pathogenic/Likely pathogenic rs281864901 GRCh37 Chromosome 11, 5247892: 5247892
22 HBB NM_000518.4(HBB): c.85dupC (p.Leu29Profs) duplication Pathogenic/Likely pathogenic rs35532010 GRCh37 Chromosome 11, 5248168: 5248168
23 HBB NM_000518.4(HBB): c.92+1G> A single nucleotide variant Pathogenic rs33971440 GRCh37 Chromosome 11, 5248159: 5248159
24 HBB NM_000518.4(HBB): c.92+1G> T single nucleotide variant Pathogenic/Likely pathogenic rs33971440 GRCh37 Chromosome 11, 5248159: 5248159
25 HBB NM_000518.4(HBB): c.315+1G> A single nucleotide variant Pathogenic rs33945777 GRCh37 Chromosome 11, 5247806: 5247806
26 HBB NM_000518.4(HBB): c.93-22_95del25 deletion Pathogenic rs193922563 GRCh37 Chromosome 11, 5248027: 5248051
27 HBB NM_000518.4(HBB): c.92+5G> C single nucleotide variant Pathogenic rs33915217 GRCh37 Chromosome 11, 5248155: 5248155
28 HBB NM_000518.4(HBB): c.92+5G> T single nucleotide variant Pathogenic rs33915217 GRCh37 Chromosome 11, 5248155: 5248155
29 HBB NM_000518.4(HBB): c.92+5G> A single nucleotide variant Pathogenic/Likely pathogenic rs33915217 GRCh37 Chromosome 11, 5248155: 5248155
30 HBB NM_000518.4(HBB): c.92+6T> C single nucleotide variant Pathogenic rs35724775 GRCh37 Chromosome 11, 5248154: 5248154
31 HBB NM_000518.4(HBB): c.316-3C> A single nucleotide variant Pathogenic rs33913413 GRCh37 Chromosome 11, 5246959: 5246959
32 HBB HBB, IVS1, T-G, -3 single nucleotide variant Pathogenic
33 HBB HBB, IVS1, C-A, -8 single nucleotide variant Pathogenic
34 HBB NM_000518.4(HBB): c.93-21G> A single nucleotide variant Pathogenic rs35004220 GRCh37 Chromosome 11, 5248050: 5248050
35 HBB HBB, IVS2, T-G, +705 single nucleotide variant Pathogenic
36 HBB NM_000518.4(HBB): c.316-106C> G single nucleotide variant Pathogenic rs34690599 GRCh37 Chromosome 11, 5247062: 5247062
37 HBB NM_000518.4(HBB): c.316-197C> T single nucleotide variant Pathogenic rs34451549 GRCh37 Chromosome 11, 5247153: 5247153
38 HBB NM_000518.4(HBB): c.75T> A (p.Gly25=) single nucleotide variant Pathogenic rs33951465 GRCh37 Chromosome 11, 5248177: 5248177
39 HBB NM_000518.4(HBB): c.-50-88C> T single nucleotide variant Pathogenic rs33944208 GRCh37 Chromosome 11, 5248389: 5248389
40 HBB NM_000518.4(HBB): c.-50-101C> T single nucleotide variant Pathogenic rs63751208 GRCh37 Chromosome 11, 5248402: 5248402
41 HBB NM_000518.4(HBB): c.-50-92C> T single nucleotide variant Pathogenic rs34883338 GRCh37 Chromosome 11, 5248393: 5248393
42 HBB HBB, -88C-A single nucleotide variant Pathogenic
43 HBB NM_000518.4(HBB): c.-137C> G single nucleotide variant Pathogenic rs33941377 GRCh37 Chromosome 11, 5248388: 5248388
44 HBB NM_000518.4(HBB): c.-136C> G single nucleotide variant Pathogenic rs33994806 GRCh37 Chromosome 11, 5248387: 5248387
45 HBB NM_000518.4(HBB): c.-81A> G single nucleotide variant Pathogenic rs33981098 GRCh37 Chromosome 11, 5248332: 5248332
46 HBB NM_000518.4(HBB): c.-80T> A single nucleotide variant Pathogenic rs33980857 GRCh37 Chromosome 11, 5248331: 5248331
47 HBB HBB, -30T-C single nucleotide variant Pathogenic
48 HBB NM_000518.4(HBB): c.-50-29A> G single nucleotide variant Pathogenic rs34598529 GRCh37 Chromosome 11, 5248330: 5248330
49 HBB NM_000518.4(HBB): c.-78A> C single nucleotide variant Pathogenic rs33931746 GRCh37 Chromosome 11, 5248329: 5248329
50 HBB NM_000518.4(HBB): c.-78A> G single nucleotide variant Pathogenic rs33931746 GRCh37 Chromosome 11, 5248329: 5248329

Expression for Thalassemia, Hispanic Gamma-Delta-Beta

Search GEO for disease gene expression data for Thalassemia, Hispanic Gamma-Delta-Beta.

Pathways for Thalassemia, Hispanic Gamma-Delta-Beta

GO Terms for Thalassemia, Hispanic Gamma-Delta-Beta

Cellular components related to Thalassemia, Hispanic Gamma-Delta-Beta according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.98 EPO HBA1 HBA2 HBB HFE TF
2 recycling endosome GO:0055037 9.58 HFE TF TFRC
3 blood microparticle GO:0072562 9.56 HBA1 HBA2 HBB HBD HBE1 HBG2
4 endocytic vesicle lumen GO:0071682 9.5 HBA1 HBA2 HBB
5 HFE-transferrin receptor complex GO:1990712 9.46 HFE TF TFR2 TFRC
6 haptoglobin-hemoglobin complex GO:0031838 9.43 HBA1 HBA2 HBB
7 basal part of cell GO:0045178 9.37 HFE TF
8 hemoglobin complex GO:0005833 9.23 AHSP HBA1 HBA2 HBB HBD HBE1

Biological processes related to Thalassemia, Hispanic Gamma-Delta-Beta according to GeneCards Suite gene sharing:

(show all 22)
id Name GO ID Score Top Affiliating Genes
1 receptor-mediated endocytosis GO:0006898 9.88 HBA1 HBA2 HBB TFR2 TFRC
2 cellular oxidant detoxification GO:0098869 9.76 HBA1 HBA2 HBB
3 response to hydrogen peroxide GO:0042542 9.74 HBA1 HBA2 HBB
4 bicarbonate transport GO:0015701 9.73 HBA1 HBA2 HBB
5 protein heterooligomerization GO:0051291 9.73 HBA1 HBA2 HBB HBE1
6 positive regulation of cell death GO:0010942 9.72 HBA1 HBA2 HBB
7 iron ion homeostasis GO:0055072 9.71 HFE TF TFR2
8 cellular iron ion homeostasis GO:0006879 9.71 HFE TF TFR2 TFRC
9 erythrocyte differentiation GO:0030218 9.67 AHSP EPO GATA1 KLF1
10 hydrogen peroxide catabolic process GO:0042744 9.63 HBA1 HBA2 HBB
11 positive regulation of receptor-mediated endocytosis GO:0048260 9.61 HFE TF
12 response to iron ion GO:0010039 9.6 HFE TFR2
13 iron ion transport GO:0006826 9.59 TF TFR2
14 positive regulation of peptide hormone secretion GO:0090277 9.58 HFE TFR2
15 acute-phase response GO:0006953 9.56 EPO HFE TFR2 UGT1A1
16 ferrous iron import into cell GO:0097460 9.52 TF TFR2
17 ferrous iron import across plasma membrane GO:0098707 9.51 TF TFR2
18 cellular response to iron ion GO:0071281 9.5 HFE TF TFR2
19 transferrin transport GO:0033572 9.46 HFE TF TFR2 TFRC
20 blood coagulation GO:0007596 9.43 GATA1 HBB HBD HBE1 HBG1 HBG2
21 oxygen transport GO:0015671 9.17 HBA1 HBA2 HBB HBD HBE1 HBG1
22 transport GO:0006810 10.19 HBA1 HBA2 HBB HBD HBE1 HBG1

Molecular functions related to Thalassemia, Hispanic Gamma-Delta-Beta according to GeneCards Suite gene sharing:

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 iron ion binding GO:0005506 9.8 HBA1 HBA2 HBB HBD HBE1 HBG1
2 heme binding GO:0020037 9.7 HBA1 HBA2 HBB HBD HBE1 HBG1
3 peroxidase activity GO:0004601 9.58 HBA1 HBA2 HBB
4 haptoglobin binding GO:0031720 9.5 HBA1 HBA2 HBB
5 oxygen binding GO:0019825 9.5 HBA1 HBA2 HBB HBD HBE1 HBG1
6 co-receptor binding GO:0039706 9.48 HFE TFR2
7 transferrin receptor binding GO:1990459 9.46 HFE TF
8 hemoglobin binding GO:0030492 9.43 AHSP HBB
9 transferrin receptor activity GO:0004998 9.37 TFR2 TFRC
10 oxygen transporter activity GO:0005344 9.17 HBA1 HBA2 HBB HBD HBE1 HBG1
11 metal ion binding GO:0046872 10.24 BCL11A GATA1 HBA1 HBA2 HBB HBD

Sources for Thalassemia, Hispanic Gamma-Delta-Beta

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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