MCID: THL005
MIFTS: 62

Thalassemia

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

Aliases & Classifications for Thalassemia

MalaCards integrated aliases for Thalassemia:

Name: Thalassemia 12 75 53 37 29 55 43 3 44 15 38 17 72
Thalassemia Hb-S Disease Without Crisis 12
Sickle-Cell Thalassemia Without Crisis 12
Thalassemia Hb-S Disease with Crisis 12
Sickle-Cell Thalassemia with Crisis 12
Thalassemias 63

Classifications:



External Ids:

Disease Ontology 12 DOID:10241
KEGG 37 H00228
ICD9CM 35 282.4 282.40
MeSH 44 D013789
NCIt 50 C35069
SNOMED-CT 68 40108008 84188003
ICD10 33 D56 D56.9
UMLS 72 C0039730

Summaries for Thalassemia

MedlinePlus : 43 Thalassemias are inherited blood disorders. If you have one, your body makes fewer healthy red blood cells and less hemoglobin. Hemoglobin is a protein that carries oxygen to the body. That leads to anemia. Thalassemias occur most often among people of Italian, Greek, Middle Eastern, Southern Asian, and African descent. Thalassemias can be mild or severe. Some people have no symptoms or mild anemia. The most common severe type in the United States is called Cooley's anemia. It usually appears during the first two years of life. People with it may have severe anemia, slowed growth and delayed puberty, and problems with the spleen, liver, heart, or bones. Doctors diagnose thalassemias using blood tests. Treatments include blood transfusions and treatment to remove excess iron from the body. If you have mild symptoms or no symptoms, you may not need treatment. In some severe cases, you may need a bone marrow transplant. NIH: National Heart, Lung, and Blood Institute

MalaCards based summary : Thalassemia, also known as thalassemia hb-s disease without crisis, is related to alpha-thalassemia/mental retardation syndrome, chromosome 16-related and hemoglobin lepore-beta-thalassemia syndrome, and has symptoms including angina pectoris, edema and chest pain. An important gene associated with Thalassemia is MIR144 (MicroRNA 144), and among its related pathways/superpathways are Glucose / Energy Metabolism and Binding and Uptake of Ligands by Scavenger Receptors. The drugs Peginterferon alfa-2b and Sulfadoxine have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and liver.

NIH Rare Diseases : 53 Thalassemia is an inherited blood disorder that reduces the production of functional hemoglobin (the protein in red blood cells that carries oxygen). This causes a shortage of red blood cells and low levels of oxygen in the bloodstream, leading to a variety of health problems. There are two main types of thalassemia, alpha thalassemia and beta thalassemia. Signs and symptoms vary but may include mild to severe anemia, paleness, fatigue, yellow discoloration of skin (jaundice), and bone problems. Beta thalassemia is caused by changes (mutations) in the HBB gene while alpha thalassemia is caused by mutations in the HBA1 and/or HBA2 genes. Both are inherited in an autosomal recessive manner. Treatment depends on the type and severity of the condition but may include blood transfusions and/or folic acid supplements.

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. When there isn't enough hemoglobin, the body's red blood cells don't function properly and they last shorter periods of time, so there are fewer healthy red blood cells traveling in the bloodstream. Red blood cells carry oxygen to all the cells of the body. Oxygen is a sort of food that cells use to function. When there are not enough healthy red blood cells, there is also not enough oxygen delivered to all the other cells of the body, which may cause a person to feel tired, weak or short of breath. This is a condition called anemia. People with thalassemia may have mild or severe anemia. Severe anemia can damage organs and lead to death.

KEGG : 37
Thalassemia is the most common hereditary blood disease caused by mutation of genes encoding hemoglobin alpha and beta chains. The anemia that is associated with thalassemia is caused by ineffective erythropoiesis which results from apoptosis of erythroid precursors or hemolysis due to the chain imbalances.

Wikipedia : 75 Thalassemias are inherited blood disorders characterized by abnormal hemoglobin production. Symptoms... more...

Related Diseases for Thalassemia

Diseases in the Thalassemia family:

Alpha-Thalassemia Beta-Thalassemia
Beta-Thalassemia and Related Diseases Alpha-Thalassemia and Related Diseases

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

(show top 50) (show all 847)
# Related Disease Score Top Affiliating Genes
1 alpha-thalassemia/mental retardation syndrome, chromosome 16-related 35.1 HBA2 HBA1
2 hemoglobin lepore-beta-thalassemia syndrome 34.4 HBD HBB
3 fetal hemoglobin quantitative trait locus 1 34.3 HBG1 HBD HBB
4 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome 34.3 HBG1 HBB
5 alpha thalassemia-intellectual disability syndrome type 1 33.9 HBD HBB HBA2 HBA1 BCL11A ATRX
6 hydrops fetalis, nonimmune 33.4 HBA2 HBA1
7 hydrops fetalis 33.4 HBA2 HBA1
8 hypochromic microcytic anemia 31.7 HBB HBA2
9 hemoglobin d disease 31.5 HBD HBB
10 hemoglobin e disease 31.5 HBS1L HBE1 HBD HBB
11 hemosiderosis 31.4 TFRC HFE EPO
12 hemoglobin zurich 31.2 HBB HBA2
13 siderosis 31.0 TFRC HFE HBB
14 iron metabolism disease 30.9 TFRC HFE EPO
15 malaria 30.9 TFRC HBB HBA2 HBA1 G6PD EPO
16 hemoglobin h disease 30.9 TFRC HBE1 HBD HBB HBA2 HBA1
17 heinz body anemias 30.8 HBB HBA2 HBA1
18 microcytic anemia 30.8 TFRC HBA2 HBA1 EPO
19 hemoglobin c disease 30.8 HBE1 HBD HBB
20 hemolytic anemia 30.7 HBB HBA2 HBA1 G6PD EPO
21 iron deficiency anemia 30.7 TFRC HFE EPO
22 methemoglobinemia, beta-globin type 30.6 HBB HBA2 HBA1
23 alpha-thalassemia 30.6 UGT1A1 TFRC HBZ HBG1 HBE1 HBB
24 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome 30.5 HBG1 HBB BCL11A
25 erythroleukemia, familial 30.4 HBG1 HBB GATA1 EPO
26 neonatal anemia 30.3 HBG1 HBA2 EPO
27 deficiency anemia 30.1 TFRC HFE HBB HBA2 GATA1 G6PD
28 hemoglobinopathy 30.0 UGT1A1 HFE HBG1 HBE1 HBD HBB
29 glucosephosphate dehydrogenase deficiency 29.9 UGT1A1 HBB G6PD
30 sea-blue histiocyte disease 29.6 HBE1 HBB
31 myelodysplastic syndrome 29.5 TFRC HFE GATA1 EPO ATRX
32 sickle cell disease 28.9 MIR144 HBS1L HBG1 HBD HBB HBA2
33 congenital hemolytic anemia 28.7 HBG1 HBE1 HBD HBB HBA2 G6PD
34 sickle cell anemia 28.5 UGT1A1 HBS1L HBG1 HBB HBA2 HBA1
35 beta-thalassemia 28.2 UGT1A1 TFRC LOC109951029 HFE HBS1L HBG1
36 hereditary spherocytosis 27.5 UGT1A1 TFRC HFE HBG1 HBE1 HBB
37 alpha thalassemia-x-linked intellectual disability syndrome 12.8
38 sickle beta thalassemia 12.7
39 alpha-thalassemia/mental retardation syndrome, x-linked 12.7
40 beta-thalassemia, dominant inclusion body type 12.7
41 thrombocytopenia with beta-thalassemia, x-linked 12.6
42 alpha-thalassemia myelodysplasia syndrome 12.6
43 hemoglobin e-beta-thalassemia syndrome 12.4
44 hemoglobin c-beta-thalassemia syndrome 12.3
45 alpha-thalassemia-abnormal morphogenesis 12.3
46 thalassemia, beta+, silent allele 12.2
47 sickle delta beta thalassemia 12.2
48 beta-thalassemia and related diseases 12.2
49 alpha-thalassemia and related diseases 12.2
50 beta-thalassemia associated with another hemoglobin anomaly 12.1

Comorbidity relations with Thalassemia via Phenotypic Disease Network (PDN):


Acute Cystitis Deficiency Anemia
Familial Atrial Fibrillation Heart Disease
Intermediate Coronary Syndrome Iron Deficiency Anemia

Graphical network of the top 20 diseases related to Thalassemia:



Diseases related to Thalassemia

Symptoms & Phenotypes for Thalassemia

UMLS symptoms related to Thalassemia:


angina pectoris, edema, chest pain

Drugs & Therapeutics for Thalassemia

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

(show top 50) (show all 319)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Peginterferon alfa-2b Approved Phase 4 99210-65-8, 215647-85-1
2
Sulfadoxine Approved, Investigational Phase 4 2447-57-6 17134
3
Pyrimethamine Approved, Investigational, Vet_approved Phase 4 58-14-0 4993
4
Zinc Approved, Investigational Phase 4 7440-66-6 32051
5
Sofosbuvir Approved Phase 4 1190307-88-0 45375808
6
Ledipasvir Approved Phase 4 1256388-51-8 67505836
7
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
8
Zinc sulfate Approved, Investigational Phase 4 7733-02-0
9
Peginterferon alfa-2a Approved, Investigational Phase 4 198153-51-4 5360545
10
Ribavirin Approved Phase 4 36791-04-5 37542
11
Velpatasvir Approved, Investigational Phase 4 1377049-84-7 67683363
12
Methotrexate Approved Phase 4 1959-05-2, 59-05-2 126941
13
leucovorin Approved Phase 4 58-05-9 143 6006
14
Basiliximab Approved, Investigational Phase 4 152923-56-3, 179045-86-4
15
Metformin Approved Phase 4 657-24-9 4091 14219
16
Deferoxamine Approved, Investigational Phase 4 70-51-9 2973
17
Deferiprone Approved Phase 4 30652-11-0 2972
18
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
19
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
20
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 6221 5280795
21
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
22
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
23
Calcifediol Approved, Nutraceutical Phase 4 19356-17-3 6433735 5283731
24
Glycine Approved, Nutraceutical, Vet_approved Phase 4 56-40-6 750
25 Interferon alpha-2 Phase 4
26 Antiparasitic Agents Phase 4
27 Fanasil, pyrimethamine drug combination Phase 4
28 Antimalarials Phase 4
29 Antiprotozoal Agents Phase 4
30 Ledipasvir, sofosbuvir drug combination Phase 4
31 Astringents Phase 4
32 Heptavalent Pneumococcal Conjugate Vaccine Phase 4
33 Interferon-alpha Phase 4
34 interferons Phase 4
35 Hematinics Phase 4
36 Sofosbuvir-velpatasvir drug combination Phase 4
37 Hypoglycemic Agents Phase 4
38 Sildenafil Citrate Phase 4 171599-83-0
39 Phosphodiesterase Inhibitors Phase 4
40 Phosphodiesterase 5 Inhibitors Phase 4
41 arginine Phase 4
42 Vasodilator Agents Phase 4
43 Siderophores Phase 4
44 Folic Acid Antagonists Phase 4
45 Thymoglobulin Phase 4
46 Folate Phase 4
47 Vitamin B9 Phase 4
48 Vitamin B Complex Phase 4
49 Bone Density Conservation Agents Phase 4
50 Hormones Phase 4

Interventional clinical trials:

(show top 50) (show all 401)
# Name Status NCT ID Phase Drugs
1 Study of the B Memory Cell Response to Vaccination With the 13-valent Pneumococcal Conjugate Vaccine in Asplenic Individuals With Beta-thalassemia Major Unknown status NCT01846923 Phase 4
2 A Randomized, Placebo Controlled, Double Blind Trial of the Effect of Combined Therapy With Deferoxamine and Deferiprone on Myocardial Iron in Thalassemia Major Using Cardiovascular Magnetic Resonance Unknown status NCT00103753 Phase 4 deferiprone
3 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
4 Efficacy of Basiliximab in the Prevention of Acute Graft-versus-host Disease in Unrelated Allogeneic Hematopoietic Stem Cell Transplantation Therapy for Thalassemia Major Treatment: a Multi-center, Open, Randomized, Controlled Clinical Study Unknown status NCT02342145 Phase 4 Basiliximab,;cyclosporine A;Methotrexate;Mycophenolate mofetil
5 The Effect of Vitamin D Supplementation on Calcium Excretion in Thalassemia: a Dose Response Study Unknown status NCT01323608 Phase 4 Vitamin D3;Placebo
6 Intermittent Treatment With Sulfadoxine-Pyrimethamine for Malaria Control in Children: A Randomised, Double Blind, and Placebo-Controlled Clinical Trial Unknown status NCT00168948 Phase 4 Sulfadoxin (12.5) Pyrimethamine (250 mg)
7 Evaluation of Liver Fibrosis by Serum Hyalornic Acid Measurement in β-Thalassemic Children Infected With Hepatitis C Virus Before and After Direct-Acting Antiviral Therapy Completed NCT03961828 Phase 4 Ledipasvir 90 MG / Sofosbuvir 400 MG [Harvoni]
8 Safety of Deferasirox (ICL670) and Deferoxamine (Desferal or DFO) Combined Chelation Therapy in Patients With Transfusion Dependent Thalassemia and Iron Overload Completed NCT00901199 Phase 4 Combo Chelation with Deferasirox (Exjade) and Desferal (DFO)
9 A Phase II, Multi-center, Single-arm, Prospective Study to Evaluate the Safety and Efficacy of Deferasirox in Beta-thalassemia Major Patients After Hematopoietic Stem Cell Transplantation. Completed NCT01610297 Phase 4 ICL670
10 1 Year, Open-label Multicenter Evaluation of Efficacy, Safety of Deferasirox in Patients MDS, Thalassemia and Rare Anemia Types Having Transfusion-induced Iron Overload. Completed NCT01250951 Phase 4 Deferasirox
11 Evaluating the Efficacy of Deferasirox in Transfusion Dependent Chronic Anaemias (Myelodysplastic Syndrome, Beta-thalassaemia Patients) With Chronic Iron Overload Completed NCT00564941 Phase 4 deferasirox
12 Evaluation of Efficacy of Zoledronic Acid in Patients With Haemoglobin Syndromes (Thalassemia and Sicle Cell Anaemia) and Risk of Skeletal Events Completed NCT00346242 Phase 4 Zoledronic Acid
13 Phase IV Study of the Use of Sequential DFP-DFO Versus DFP in Thalassemia Major Patients Completed NCT00733811 Phase 4 Deferiprone (DFP) and Deferoxamine (DFO);Deferiprone (DFP)
14 An Open Label, Multi-center, Efficacy and Safety Study of Deferasirox in Iron Overloaded Patients With Non-transfusion Dependent Thalassemia Completed NCT01709838 Phase 4 ICL670 deferasirox
15 1-year Extension to CICL670A2402 an Open-label, Multi-center Trial of the Efficacy and Safety of Long-term Treatment With Deferasirox (10 to 20 mg/kg/Day) in Beta-thalassemia Patients With Transfusional Hemosiderosis (Study Amended to 2- Year Duration) Completed NCT00171301 Phase 4 Deferasirox
16 Randomized Trial Comparing the Relative Efficacy of Deferiprone to That of Deferoxamine in Removing Excess Cardiac Iron in Thalassemia Major Patients Completed NCT00105495 Phase 4 Ferriprox (deferiprone);Desferal (deferoxamine)
17 Pneumococcal Vaccination for Splenectomised Thalassemia Major Patients in Indonesia Completed NCT03095326 Phase 4 Sucrose
18 Increased Survival and Reversion of Iron-Induced Cardiac Disease in Patients With Thalassemia Major Receiving Intensive Combined Chelation Therapy Completed NCT00800761 Phase 4 Deferoxamine and Deferiprone;Deferoxamine
19 Sofosbuvir/Ledipasvir for Hepatitis C Genotype 1-6 in Patients With Transfusion-Dependent Thalassemia: An Open Label Trial Completed NCT03032666 Phase 4 sofosbuvir/velpatasvir
20 Zinc Supplementation on Cellular Immunity in Thalassemia Major Completed NCT03117192 Phase 4 Zinc Sulfate;Sucrose Syrup
21 A Study on PEGASYS® (Peginterferon Alfa-2a (40KD)) Plus COPEGUS® (Ribavirin) in Iranian Thalassemic Patients With Chronic Hepatitis C Infection Completed NCT00707850 Phase 4 PEGASYS® (Peginterferon Alfa-2a (40KD)) Plus COPEGUS® (Ribavirin)
22 Pilot Pharmacokinetic Study In Patients With Inadequate Response To Deferasirox (Exjade) Completed NCT00749515 Phase 4 Deferoxamine;Deferasirox
23 An Epidemiological Study to Assess the Prevalence of Iron Overload Using MRI in Patients With Transfusional Siderosis (TIMES Study) Completed NCT01736540 Phase 4
24 Effect of Folic Acid Supplementation on Plasma Homocysteine Level in Obese Children: a Randomized Double Blinded Placebo Controlled Trial Completed NCT01766310 Phase 4 Folic Acid;placebo
25 Comparative Clinical Study Evaluating the Effect of L-arginine Versus Sildenafil in Children With Beta Thalassemia Associated With Pulmonary Hypertension Recruiting NCT03402191 Phase 4 L-arginine;Sildenafil
26 Hematopoietic Stem Cell Transplantation for Patients With Thalassemia Major: A Multicenter, Prospective Clinical Study Recruiting NCT04009525 Phase 4 Busulfan;Cyclophosphamide;Fludarabine;Thymoglobulin;cyclosporine A;Mycophenolate mofetil;Tacrolimus;Methotrexate;Basiliximab;Ruxolitinib
27 Haploidentical Hematopoietic Stem Cell Transplantation for Patients With Thalassemia Major Recruiting NCT03171831 Phase 4 Busulfan;Cyclophosphamide;Fludarabine;Mycophenolate mofetil;Tacrolimus;Methotrexate;Thymoglobulin;Basiliximab
28 A Multi-center Randomized, Double-blind, Placebo-controlled Study of Colla Corii Asini for the Treatment of Anemia in Pregnant Women With Thalassemia(Presenting the Syndrome of Blood Deficiency) Recruiting NCT03374111 Phase 4 Colla corii asini;a Simulate Agent of Colla corii asini granule
29 Safety and Efficacy of Early-start Deferiprone Treatment in Infants and Young Children Newly Diagnosed With Transfusion-dependent Beta Thalassemia Recruiting NCT03591575 Phase 4 Deferiprone oral solution;Placebo
30 Investigation of Signal Pathway Induced by Colla Corri Asini Regulating Globin Level in Beta Thalassemia Patients With Pregnancy Anemia Recruiting NCT03392298 Phase 4 Colla corii asini
31 The Potential Hepatoprotective Effect of Metformin in Patients With Beta Thalasemia Major Recruiting NCT02984475 Phase 4 Metformin
32 The Efficacy and Safety of Ferriprox® for the Treatment of Transfusional Iron Overload in Patients With Sickle Cell Disease or Other Anemias Recruiting NCT02041299 Phase 4 Deferiprone;Deferoxamine
33 Prospective Crossover Study on Beta(ß)-Thalassaemia Transfusion-dependent to Evaluate the Impact on Transfusion Regimen of Two Pre-storage Leukoreduced PRBCs(In-line Filtration + B-C Separation; Whole Blood Filtration + B-C Conservation) Enrolling by invitation NCT03992001 Phase 4
34 Long-term Safety and Efficacy Study of Ferriprox® for the Treatment of Transfusional Iron Overload in Patients With Sickle Cell Disease or Other Anemias Enrolling by invitation NCT02443545 Phase 4 Deferiprone
35 A Randomized Phase IV Control Trial of Single High Dose Oral Vitamin D3 (Stoss Therapy) in Pediatric Patients Undergoing HSCT to Prevent Vitamin D Deficiency and Insufficiency During Transplant Enrolling by invitation NCT03176849 Phase 4
36 Is Iron Supplementation Harmful in Populations Where Iron Deficiency is Not the Cause of Anemia? A 12 Week RCT in Cambodia Not yet recruiting NCT04017598 Phase 4
37 An Open Label Study to Evaluate the Pharmacokinetics, Safety, Tolerability and Efficacy of Deferasirox Administered to Chinese Patients With β-thalassemia Major Aged From 2 to Less Than 6 Years Old Withdrawn NCT01724138 Phase 4 Deferasirox
38 A Multicenter, Open-label, Single Arm, Interventional Phase IV Study, to Evaluate the Effect of Deferasirox on Endocrine Complications in Subjects With Transfusion Dependent Thalassemia Withdrawn NCT02069886 Phase 4 deferasirox
39 Zoledronic Acid for the Prevention of Bone Loss Post-bone Marrow Transplantation for Thalassemia Major Patients: A Prospective Pilot Study Unknown status NCT01016093 Phase 2, Phase 3 Zoledronic acid;Placebo
40 Study of Safty and Efficacy of Adjuvant Vitamin c in Augmenting Iron Chelation Unknown status NCT02083575 Phase 2, Phase 3 Vitamin C, Defriprone, deferisarox;deferiprone , deferesarox
41 Combined Therapy of Silymarin and Desferrioxamine in Patients With B-thalassemia Major: a Randomized Double-blind Clinical Trial Unknown status NCT00999349 Phase 2, Phase 3 Silymarin (LEGALON);Placebo
42 Phase 2 Study of Therapeutic Effect and Safety of Combined Hydroxyurea With Recombinant Human Erythropoietin. Unknown status NCT01624038 Phase 2, Phase 3 Hydroxyurea ,Epiao;hydroxyurea, blood transfusion
43 A Decisional Algorithm to Start Iron Chelation in Minimally Transfused Young Beta-thalassemia Major Patients Naive to Iron Chelation Therapy. A Comparative Randomized Prospective Study Unknown status NCT02173951 Phase 2, Phase 3 Deferiprone
44 A Prospective Randomized Comparative Study of Efficacy and Safety of Combined Deferiprone (DFP) and Deferasirox Versus DFP and Desferrioxamine (DFO) Therapy in Diseases With Severe Iron Overload Unknown status NCT01511848 Phase 2, Phase 3 DFP (ferriprox) and deferasirox (ICL 670);DFP, DFO
45 Treatment of Wolfram Syndrome Type 2 With the Chelator Deferiprone, and Incretin Based Therapy Unknown status NCT02882477 Phase 2, Phase 3 Deferiprone;Acetylcysteine;Sitagliptin and Metformin
46 A Study of Efficacy and Safety of Long-term Treatment With Deferasirox in Patients With Beta-thalassemia and Transfusional Hemosiderosis Completed NCT00171171 Phase 3 deferasirox
47 A Randomized Controlled Study to Evaluate Efficacy and Safety of S 303 Treated Red Blood Cells (RBC) in Subjects With Thalassemia Major Requiring Chronic RBC Transfusion Completed NCT01740531 Phase 3
48 The Effect of Metoprolol Succinate on the Cardiac Function of Patients With Thalassemia Cardiomyopathy a Double Blind Randomized Study Completed NCT01863173 Phase 2, Phase 3 metoprolol;placebo
49 An Extension Study of Iron Chelation Therapy With Deferasirox (ICL670)in β-thalassemia Patients With Transfusional Iron Overload Completed NCT00171210 Phase 3 Deferasirox
50 Amlodipine in the Prevention and Treatment of Iron Overload in Patients With Thalassemia Major: a Randomized, Controlled Trial Completed NCT01395199 Phase 3 Amlodipine

Search NIH Clinical Center for Thalassemia

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Thalassemia cell therapies at LifeMap Discovery.

Cochrane evidence based reviews: thalassemia

Genetic Tests for Thalassemia

Genetic tests related to Thalassemia:

# Genetic test Affiliating Genes
1 Thalassemia 29

Anatomical Context for Thalassemia

MalaCards organs/tissues related to Thalassemia:

41
Bone, Bone Marrow, Liver, Testes, Heart, Spleen, Skin

Publications for Thalassemia

Articles related to Thalassemia:

(show top 50) (show all 15749)
# Title Authors PMID Year
1
Cardiac involvement in beta-thalassaemia: current treatment strategies. 38 17
31002266 2019
2
Recent trends in treatment of thalassemia. 38 17
30792169 2019
3
Iron Chelation for Iron Overload in Thalassemia. 38 17
30855104 2019
4
Mir-144 selectively regulates embryonic alpha-hemoglobin synthesis during primitive erythropoiesis. 38 88
18941117 2009
5
Alpha-hemoglobin stabilizing protein (AHSP), a kinetic scheme of the action of a human mutant, AHSPV56G. 9 38
20371604 2010
6
Transferrin therapy ameliorates disease in beta-thalassemic mice. 9 38
20098432 2010
7
Production of beta-globin and adult hemoglobin following G418 treatment of erythroid precursor cells from homozygous beta(0)39 thalassemia patients. 9 38
19810011 2009
8
Association of α globin gene quadruplication and heterozygous β thalassemia in patients with thalassemia intermedia. 9 38
19794088 2009
9
Alpha and beta thalassemia. 9 38
19678601 2009
10
Nucleated red blood cells and soluble transferrin receptor in thalassemia syndromes: relationship with global and ineffective erythropoiesis. 9 38
19824799 2009
11
Human phenotypes associated with GATA-1 mutations. 9 38
18930124 2008
12
Renal tubular dysfunction with nephrocalcinosis in a patient with beta thalassemia minor. 9 38
18974585 2008
13
The role of oxidative stress in hemolytic anemia. 9 38
18991647 2008
14
Two nonsense mutations in the TMPRSS6 gene in a patient with microcytic anemia and iron deficiency. 9 38
18596229 2008
15
Mutations in the chromatin-associated protein ATRX. 9 38
18409179 2008
16
Long-range regulation of alpha globin gene expression during erythropoiesis. 9 38
18391781 2008
17
Autoimmune hemolytic anemia. 9 38
18537006 2008
18
Prevalence of beta-thalassemia trait and glucose-6-phosphate dehydrogenase deficiency in Iranian Jews. 9 38
18164966 2008
19
alpha/beta-Globin mRNA ratio determination by multiplex quantitative real-time reverse transcription-polymerase chain reaction as an indicator of globin gene function. 9 38
17920577 2007
20
Identification of two new synthetic histone deacetylase inhibitors that modulate globin gene expression in erythroid cells from healthy donors and patients with thalassemia. 9 38
17666592 2007
21
Status of HFE mutation in thalassemia syndromes in north India. 9 38
17401564 2007
22
[Rapid development of anemia in a HIV-positive patient with alpha-thalassemia after zidovudine therapy]. 9 38
17933262 2007
23
AHSP: a novel hemoglobin helper. 9 38
17607349 2007
24
Distal renal tubular acidosis associated with anion exchanger 1 mutations in children in Thailand. 9 38
17533027 2007
25
[Neonatal screening of hemoglobinopathies and G6PD deficiency in Catalonia (Spain). Molecular study of sickle cell disease associated with alpha thalassemia and G6PD deficiency]. 9 38
17669331 2007
26
[Erythrocyte polymorphism in Mali: epidemiology and resistance mechanisms against severe Plasmodium falciparum malaria]. 9 38
18225432 2007
27
Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria. 9 38
17148589 2007
28
Genome-wide linkage analysis of malaria infection intensity and mild disease. 9 38
17381244 2007
29
Plasma chitotriosidase in health and pathology. 9 38
17605408 2007
30
Further identification of Hb G-Coushatta [beta22(B4)Glu-->Ala (GAA-->GCA)] in Thailand by the polymerase chain reaction-single-strand conformation polymorphism technique and by amplification refractory mutation system-polymerase chain reaction. 9 38
17365010 2007
31
[Increased haemoglobin A2 levels in pseudoxanthoma elasticum]. 9 38
17053732 2006
32
Combination erythropoietin-hydroxyurea therapy in sickle cell disease: experience from the National Institutes of Health and a literature review. 9 38
16885048 2006
33
[Phenotyping and genotyping studies in a family with the compound heterozygosity deltabeta Thalassemia/beta(IVSII-849) Thalassemia]. 9 38
16886779 2006
34
Chicken egg yolk antibodies specific for the gamma chain of human hemoglobin for diagnosis of thalassemia. 9 38
16787871 2006
35
Molecular detection of Spanish deltabeta-thalassemia associated with beta-thalassemia identified during prenatal diagnosis. 9 38
16480700 2006
36
An increase of the cardiothoracic ratio leads to a diagnosis of Bart's hydrops. 9 38
16696397 2006
37
Loss of Atrx affects trophoblast development and the pattern of X-inactivation in extraembryonic tissues. 9 38
16628246 2006
38
Novel and Mediterranean beta thalassemia mutations in the indigenous Northern Ireland population. 9 38
16466947 2006
39
Stiffness of normal and pathological erythrocytes studied by means of atomic force microscopy. 9 38
16443279 2006
40
Iron mobilization from transferrin and non-transferrin-bound-iron by deferiprone. Implications in the treatment of thalassemia, anemia of chronic disease, cancer and other conditions. 9 38
16798643 2006
41
Hydroxamide derivatives of short-chain fatty acid have erythropoietic activity and induce gamma gene expression in vivo. 9 38
16338486 2005
42
Beta-globin cluster haplotypes in normal individuals and beta(0)39-thalassemia carriers from Sardinia, Italy. 9 38
16254903 2005
43
Effects of variant UDP-glucuronosyltransferase 1A1 gene, glucose-6-phosphate dehydrogenase deficiency and thalassemia on cholelithiasis. 9 38
16237771 2005
44
How malaria has affected the human genome and what human genetics can teach us about malaria. 9 38
16001361 2005
45
Two beta-globin cluster-linked polymorphic loci in thalassemia patients of variable levels of fetal hemoglobin. 9 38
15946310 2005
46
[Erythrocyte defects and parasitemia density in patients with Plasmodium falciparum malaria in Buenaventura, Colombia]. 9 38
16105323 2005
47
Genetic modifiers of beta-thalassemia. 9 38
15921380 2005
48
[Congenital hemolytic anemia]. 9 38
15773339 2005
49
Genetic heterogeneity of Beta thalassemia in Lebanon reflects historic and recent population migration. 9 38
15638828 2005
50
Thalassemia intermedia associated with complex interaction of Hb Beijing [alpha16(A14)Lys-->Asn] and Hb E [beta26(B8)Glu-->Lys] with a deletional alpha-thalassemia-1 in a Thai family. 9 38
15768559 2005

Variations for Thalassemia

Expression for Thalassemia

Search GEO for disease gene expression data for Thalassemia.

Pathways for Thalassemia

GO Terms for Thalassemia

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

# Name GO ID Score Top Affiliating Genes
1 blood microparticle GO:0072562 9.63 TFRC HBE1 HBD HBB HBA2 HBA1
2 haptoglobin-hemoglobin complex GO:0031838 9.5 HBZ HBG1 HBE1 HBD HBB HBA2
3 endocytic vesicle lumen GO:0071682 9.43 HBB HBA2 HBA1
4 HFE-transferrin receptor complex GO:1990712 9.32 TFRC HFE
5 hemoglobin complex GO:0005833 9.23 HBZ HBG1 HBE1 HBD HBB HBA2

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 receptor-mediated endocytosis GO:0006898 9.81 TFRC HBB HBA2 HBA1
2 cellular oxidant detoxification GO:0098869 9.8 HBZ HBG1 HBE1 HBD HBB HBA2
3 blood coagulation GO:0007596 9.77 HBG1 HBE1 HBD HBB GATA1
4 response to organic cyclic compound GO:0014070 9.7 UGT1A1 HBE1 G6PD
5 response to hydrogen peroxide GO:0042542 9.67 HBB HBA2 HBA1
6 positive regulation of cell death GO:0010942 9.65 HBB HBA2 HBA1
7 erythrocyte differentiation GO:0030218 9.63 GATA1 EPO AHSP
8 bicarbonate transport GO:0015701 9.61 HBB HBA2 HBA1
9 acute-phase response GO:0006953 9.58 UGT1A1 HFE EPO
10 erythrocyte maturation GO:0043249 9.5 HBZ G6PD EPO
11 hydrogen peroxide catabolic process GO:0042744 9.5 HBZ HBG1 HBE1 HBD HBB HBA2
12 protein heterooligomerization GO:0051291 9.46 HBE1 HBB HBA2 HBA1
13 oxygen transport GO:0015671 9.17 HBZ HBG1 HBE1 HBD HBB HBA2

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

# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 9.91 HBZ HBG1 HBE1 HBD HBB HBA2
2 oxygen binding GO:0019825 9.87 HBZ HBG1 HBE1 HBD HBB HBA2
3 peroxidase activity GO:0004601 9.8 HBZ HBG1 HBE1 HBD HBB HBA2
4 oxygen carrier activity GO:0005344 9.7 HBZ HBG1 HBE1 HBD HBB HBA2
5 iron ion binding GO:0005506 9.63 HBZ HBA2 HBA1
6 hemoglobin alpha binding GO:0031721 9.58 HBE1 HBD HBB
7 organic acid binding GO:0043177 9.5 HBZ HBG1 HBE1 HBD HBB HBA2
8 hemoglobin binding GO:0030492 9.43 HBB AHSP
9 haptoglobin binding GO:0031720 9.17 HBZ HBG1 HBE1 HBD HBB HBA2
10 metal ion binding GO:0046872 10.18 HBZ HBG1 HBE1 HBD HBB HBA2

Sources for Thalassemia

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