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

Aliases & Classifications for Thalassemia

Summaries for Thalassemia

MedlinePlus : 42 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 thalassemias, is related to alpha-thalassemia/mental retardation syndrome, chromosome 16-related and beta-thalassemia, dominant inclusion body type, and has symptoms including angina pectoris, chest pain and edema. An important gene associated with Thalassemia is MIR144 (MicroRNA 144), 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 Metformin and Peginterferon alfa-2b have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, spleen and bone.

GARD : 20 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 : 36 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 : 74 Thalassemias are inherited blood disorders characterized by decreased hemoglobin production. Symptoms... more...

Related Diseases for Thalassemia

Diseases in the Thalassemia family:

Alpha-Thalassemia Beta-Thalassemia
Autosomal Dominant 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 843)
# Related Disease Score Top Affiliating Genes
1 alpha-thalassemia/mental retardation syndrome, chromosome 16-related 32.6 HBA2 HBA1
2 beta-thalassemia, dominant inclusion body type 32.6 LOC110006319 LOC106099062 HBB
3 beta-thalassemia major 32.5 LOC110006319 LOC106099062 HBB
4 alpha thalassemia-intellectual disability syndrome type 1 32.4 HBA2 HBA1 ATRX
5 hemoglobin e-beta-thalassemia syndrome 32.3 LOC106099062 HBB
6 thalassemia minor 32.3 HBB HBA2 GATA1
7 hydrops fetalis, nonimmune 32.3 HBA2 HBA1
8 thrombocytopenia with beta-thalassemia, x-linked 32.3 HBG1 GATA1
9 beta-thalassemia intermedia 32.2 LOC110006319 LOC106099062 HBB
10 hemoglobin lepore-beta-thalassemia syndrome 32.1 HBD HBB
11 fetal hemoglobin quantitative trait locus 1 31.8 LOC110006319 LOC109951029 LOC106099062 HBG1 HBD HBB
12 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome 31.8 HBG1 HBB
13 microcytic anemia 31.2 HBB HBA2 HBA1
14 splenomegaly 31.2 HBA2 HBA1
15 hypochromic microcytic anemia 31.2 HBB HBA2 HBA1
16 hemolytic anemia 30.9 LOC106099062 HBG1 HBB HBA2 HBA1
17 hemoglobin h disease 30.9 LOC106804613 LOC106804612 HBG1 HBD HBB HBA2
18 malaria 30.7 LOC110006319 LOC106099062 HBB HBA2 HBA1
19 hemoglobin d disease 30.6 LOC110006319 HBD HBB
20 hemoglobin e disease 30.6 LOC106099062 HBS1L HBD HBB BCL11A
21 methemoglobinemia 30.4 LOC106099062 HBB
22 hemoglobin c disease 30.3 LOC106099062 HBD HBB
23 acute erythroid leukemia 30.1 HBG1 HBB GATA1
24 hemoglobin zurich 30.0 LOC106804612 LOC106099062 HBB HBA2
25 hereditary spherocytosis 30.0 HBG1 HBB GATA1 BCL11A
26 deficiency anemia 30.0 LOC106099062 HBS1L HBG1 HBB HBA2 HBA1
27 immune hydrops fetalis 30.0 HBA2 HBA1
28 beta-thalassemia 29.9 LOC110006319 LOC109951029 LOC106099062 HBS1L HBG1 HBD
29 hemoglobin se disease 29.9 LOC110006319 LOC106099062 HBB
30 methemoglobinemia, beta type 29.9 LOC110006319 LOC106099062 HBB
31 histiocytosis-lymphadenopathy plus syndrome 29.6 HBB HBA2
32 erythrocytosis, familial, 6 29.5 LOC110006319 LOC106099062 HBB
33 sickle cell disease 29.5 MIR144 LOC110006319 LOC106099062 HBS1L HBG1 HBD
34 methemoglobinemia, beta-globin type 29.5 LOC110006319 LOC106099062 HBB HBA2 HBA1
35 heinz body anemias 29.4 LOC110006319 LOC106804613 LOC106099062 HBB HBA2 HBA1
36 alpha-thalassemia 29.3 LOC110006319 LOC106804613 LOC106804612 LOC106099062 HBS1L HBG1
37 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome 29.3 LOC110006319 LOC106099062 HBG1 HBB BCL11A
38 hemoglobinopathy 29.2 LOC110006319 LOC106099062 HBS1L HBG1 HBD HBB
39 sickle cell anemia 29.2 LOC110006319 LOC106099062 HBS1L HBG1 HBB HBA2
40 congenital hemolytic anemia 29.2 HBG1 HBD HBB HBA2 GATA1 BCL11A
41 alpha thalassemia-x-linked intellectual disability syndrome 11.7
42 sickle beta thalassemia 11.7
43 alpha-thalassemia/mental retardation syndrome, x-linked 11.7
44 alpha-thalassemia myelodysplasia syndrome 11.5
45 autosomal dominant beta thalassemia 11.4
46 hemoglobin c-beta-thalassemia syndrome 11.1
47 hemosiderosis 11.1
48 rare hereditary hemochromatosis 11.1
49 alpha-thalassemia and related diseases 11.1
50 alpha-thalassemia-abnormal morphogenesis 11.1

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, chest pain, edema

Drugs & Therapeutics for Thalassemia

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

(show top 50) (show all 224)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Metformin Approved Phase 4 657-24-9 14219 4091
Peginterferon alfa-2b Approved Phase 4 215647-85-1, 99210-65-8
Deferiprone Approved Phase 4 30652-11-0 2972
Zinc sulfate Approved, Investigational Phase 4 7733-02-0
Zinc Approved, Investigational Phase 4 7440-66-6 32051
Deferoxamine Approved, Investigational Phase 4 70-51-9 2973
Velpatasvir Approved, Investigational Phase 4 1377049-84-7 67683363
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
Peginterferon alfa-2a Approved, Investigational Phase 4 198153-51-4 5360545
Ribavirin Approved Phase 4 36791-04-5 37542
Methotrexate Approved Phase 4 1959-05-2, 59-05-2 126941
Basiliximab Approved, Investigational Phase 4 179045-86-4, 152923-56-3
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 6221 5280795
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
Calcifediol Approved, Nutraceutical Phase 4 19356-17-3 6433735 5283731
17 Hypoglycemic Agents Phase 4
18 Interferon alpha-2 Phase 4
19 Hormones Phase 4
20 Vitamins Phase 4
21 Calcium, Dietary Phase 4
22 Nutrients Phase 4
23 Micronutrients Phase 4
24 Trace Elements Phase 4
25 Calciferol Phase 4
26 Heptavalent Pneumococcal Conjugate Vaccine Phase 4
27 interferons Phase 4
28 Interferon-alpha Phase 4
29 Vitamin D2 Phase 4
30 Ergocalciferols Phase 4
31 Hydroxycholecalciferols Phase 4
32 Dermatologic Agents Phase 4
33 Phosphodiesterase Inhibitors Phase 4
34 Phosphodiesterase 5 Inhibitors Phase 4
35 Sildenafil Citrate Phase 4 171599-83-0
36 Vasodilator Agents Phase 4
37 Folic Acid Antagonists Phase 4
38 Cyclosporins Phase 4
Calcium Nutraceutical Phase 4 7440-70-2 271
Arginine Investigational, Nutraceutical Phase 4 74-79-3 6322
Sevoflurane Approved, Vet_approved Phase 2, Phase 3 28523-86-6 5206
Rocuronium Approved Phase 2, Phase 3 119302-91-9, 143558-00-3 441290
Propofol Approved, Investigational, Vet_approved Phase 2, Phase 3 2078-54-8 4943
44 Orange Approved Phase 3
Lenograstim Approved, Investigational Phase 2, Phase 3 135968-09-1
Sargramostim Approved, Investigational Phase 2, Phase 3 123774-72-1, 83869-56-1
Amlodipine Approved Phase 2, Phase 3 88150-42-9 2162
Metoprolol Approved, Investigational Phase 2, Phase 3 51384-51-1, 37350-58-6 4171
Ethanol Approved Phase 3 64-17-5 702
Vidarabine Approved, Investigational Phase 2, Phase 3 24356-66-9 32326 21704

Interventional clinical trials:

(show top 50) (show all 327)
# Name Status NCT ID Phase Drugs
1 The Effect of Vitamin D Supplementation on Calcium Excretion in Thalassemia: a Dose Response Study Unknown status NCT01323608 Phase 4 Vitamin D3;Placebo
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 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
4 The Potential Hepatoprotective Effect of Metformin in Patients With Beta Thalasemia Major Unknown status NCT02984475 Phase 4 Metformin
5 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
6 Investigation of Signal Pathway Induced by Colla Corri Asini Regulating Globin Level in Beta Thalassemia Patients With Pregnancy Anemia Unknown status NCT03392298 Phase 4 Colla corii asini
7 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) Unknown status NCT03374111 Phase 4 Colla corii asini;a Simulate Agent of Colla corii asini granule
8 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
9 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
10 Safety and Efficacy of Early-start Deferiprone Treatment in Infants and Young Children Newly Diagnosed With Transfusion-dependent Beta Thalassemia Completed NCT03591575 Phase 4 Deferiprone oral solution;Placebo
11 Zinc Supplementation on Cellular Immunity in Thalassemia Major Completed NCT03117192 Phase 4 Zinc Sulfate;Sucrose Syrup
12 An Epidemiological Study to Assess the Prevalence of Iron Overload Using MRI in Patients With Transfusional Siderosis (TIMES Study) Completed NCT01736540 Phase 4
13 Sofosbuvir/Ledipasvir for Hepatitis C Genotype 1-6 in Patients With Transfusion-Dependent Thalassemia: An Open Label Trial Completed NCT03032666 Phase 4 sofosbuvir/velpatasvir
14 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)
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 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]
18 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
19 Pneumococcal Vaccination for Splenectomised Thalassemia Major Patients in Indonesia Completed NCT03095326 Phase 4 Sucrose
20 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
21 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)
22 An Open Label, Multi-center, Efficacy and Safety Study of Deferasirox in Iron Overloaded Patients With Non-transfusion Dependent Thalassemia Completed NCT01709838 Phase 4 deferasirox
23 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
24 Pilot Pharmacokinetic Study In Patients With Inadequate Response To Deferasirox (Exjade) Completed NCT00749515 Phase 4 Deferoxamine;Deferasirox
25 Evaluating the Efficacy of Deferasirox in Transfusion Dependent Chronic Anaemias (Myelodysplastic Syndrome, Beta-thalassaemia Patients) With Chronic Iron Overload Completed NCT00564941 Phase 4 deferasirox
26 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)
27 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 Completed NCT03176849 Phase 4
28 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
29 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
30 Haploidentical Hematopoietic Stem Cell Transplantation for Patients With Thalassemia Major Recruiting NCT03171831 Phase 4 Busulfan;Cyclophosphamide;Fludarabine;Mycophenolate mofetil;Tacrolimus;Methotrexate;Thymoglobulin;Basiliximab
31 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
32 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
33 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
34 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
35 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
36 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
37 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
38 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
39 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
40 Efficacy and Safety Study of Sugammadex in Children 0-2 Years Old Unknown status NCT03728543 Phase 2, Phase 3 Sugammadex
41 Effect of L-type Calcium Channel Blocker (Amlodipine) on Myocardial Iron Deposition in Thalassemic Patients With Moderate to Severe Myocardial Iron Deposition: A Randomized Pilot Study Completed NCT02065492 Phase 2, Phase 3 Standard Chelation;Amlodipine
42 Amlodipine in the Prevention and Treatment of Iron Overload in Patients With Thalassemia Major: a Randomized, Controlled Trial Completed NCT01395199 Phase 3 Amlodipine
43 An Extension Study of Iron Chelation Therapy With Deferasirox (ICL670)in β-thalassemia Patients With Transfusional Iron Overload Completed NCT00171210 Phase 3 Deferasirox
44 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
45 A Randomized, Comparative, Open Label Phase III Trial on Efficacy & Safety of Long-term Treatment With ICL670 Compared to Deferoxamine in Beta-thalassemia Patients With Transfusional Hemosiderosis Completed NCT00061750 Phase 3 ICL670;deferoxamine
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 Amlodipine Use in the Prevention and Treatment of Iron Overload in Patients With Thalassemia Major Completed NCT01125254 Phase 2, Phase 3 Amlodipine
48 Effect of Zinc Supplementation on Glucose Homeostasis in Patients With β-Thalassemia Major Complicated With Diabetes Mellitus Completed NCT03851055 Phase 3 Zinc
49 Impact of Combination Therapy Between Hydroxy Urea, Omega 3, Nigella Sativa and Honey on Antioxidant-oxidant Status and Reduction of Iron Overload in Pediatric Major Thalassemia Completed NCT04292314 Phase 2, Phase 3 Omega 3;Nigella Sativa Oil;Hydroxyurea;Honey;Deferoxamine
50 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

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.

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:

Bone Marrow, Spleen, Bone, Liver, Heart, Spinal Cord, Endothelial

Publications for Thalassemia

Articles related to Thalassemia:

(show top 50) (show all 16860)
# Title Authors PMID Year
CRISPR-Cas9 Gene Editing for Sickle Cell Disease and β-Thalassemia. 42 61
33283989 2021
Promising Strategies for Sickle Cell Disease and β-Thalassemia. 42 61
33433564 2021
Denosumab versus zoledronic acid for patients with beta-thalassemia major-induced osteoporosis. 61 42
33371098 2020
Mir-144 selectively regulates embryonic alpha-hemoglobin synthesis during primitive erythropoiesis. 47 61
18941117 2009
Alpha-hemoglobin stabilizing protein (AHSP), a kinetic scheme of the action of a human mutant, AHSPV56G. 61 54
20371604 2010
Transferrin therapy ameliorates disease in beta-thalassemic mice. 54 61
20098432 2010
Production of beta-globin and adult hemoglobin following G418 treatment of erythroid precursor cells from homozygous beta(0)39 thalassemia patients. 54 61
19810011 2009
Association of α globin gene quadruplication and heterozygous β thalassemia in patients with thalassemia intermedia. 61 54
19794088 2009
Alpha and beta thalassemia. 61 54
19678601 2009
Nucleated red blood cells and soluble transferrin receptor in thalassemia syndromes: relationship with global and ineffective erythropoiesis. 61 54
19824799 2009
Human phenotypes associated with GATA-1 mutations. 61 54
18930124 2008
The role of oxidative stress in hemolytic anemia. 61 54
18991647 2008
Renal tubular dysfunction with nephrocalcinosis in a patient with beta thalassemia minor. 54 61
18974585 2008
Two nonsense mutations in the TMPRSS6 gene in a patient with microcytic anemia and iron deficiency. 61 54
18596229 2008
Mutations in the chromatin-associated protein ATRX. 54 61
18409179 2008
Long-range regulation of alpha globin gene expression during erythropoiesis. 61 54
18391781 2008
Autoimmune hemolytic anemia. 61 54
18537006 2008
Prevalence of beta-thalassemia trait and glucose-6-phosphate dehydrogenase deficiency in Iranian Jews. 54 61
18164966 2008
alpha/beta-Globin mRNA ratio determination by multiplex quantitative real-time reverse transcription-polymerase chain reaction as an indicator of globin gene function. 61 54
17920577 2007
Identification of two new synthetic histone deacetylase inhibitors that modulate globin gene expression in erythroid cells from healthy donors and patients with thalassemia. 54 61
17666592 2007
[Rapid development of anemia in a HIV-positive patient with alpha-thalassemia after zidovudine therapy]. 54 61
17933262 2007
Status of HFE mutation in thalassemia syndromes in north India. 54 61
17401564 2007
AHSP: a novel hemoglobin helper. 61 54
17607349 2007
[Neonatal screening of hemoglobinopathies and G6PD deficiency in Catalonia (Spain). Molecular study of sickle cell disease associated with alpha thalassemia and G6PD deficiency]. 54 61
17669331 2007
Distal renal tubular acidosis associated with anion exchanger 1 mutations in children in Thailand. 54 61
17533027 2007
[Erythrocyte polymorphism in Mali: epidemiology and resistance mechanisms against severe Plasmodium falciparum malaria]. 61 54
18225432 2007
Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria. 54 61
17148589 2007
Genome-wide linkage analysis of malaria infection intensity and mild disease. 54 61
17381244 2007
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. 54 61
17365010 2007
Plasma chitotriosidase in health and pathology. 61 54
17605408 2007
Combination erythropoietin-hydroxyurea therapy in sickle cell disease: experience from the National Institutes of Health and a literature review. 54 61
16885048 2006
[Increased haemoglobin A2 levels in pseudoxanthoma elasticum]. 54 61
17053732 2006
Chicken egg yolk antibodies specific for the gamma chain of human hemoglobin for diagnosis of thalassemia. 54 61
16787871 2006
Molecular detection of Spanish deltabeta-thalassemia associated with beta-thalassemia identified during prenatal diagnosis. 61 54
16480700 2006
[Phenotyping and genotyping studies in a family with the compound heterozygosity deltabeta Thalassemia/beta(IVSII-849) Thalassemia]. 61 54
16886779 2006
An increase of the cardiothoracic ratio leads to a diagnosis of Bart's hydrops. 61 54
16696397 2006
Loss of Atrx affects trophoblast development and the pattern of X-inactivation in extraembryonic tissues. 61 54
16628246 2006
Novel and Mediterranean beta thalassemia mutations in the indigenous Northern Ireland population. 54 61
16466947 2006
Stiffness of normal and pathological erythrocytes studied by means of atomic force microscopy. 61 54
16443279 2006
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. 54 61
16798643 2006
Hydroxamide derivatives of short-chain fatty acid have erythropoietic activity and induce gamma gene expression in vivo. 61 54
16338486 2005
Beta-globin cluster haplotypes in normal individuals and beta(0)39-thalassemia carriers from Sardinia, Italy. 61 54
16254903 2005
Effects of variant UDP-glucuronosyltransferase 1A1 gene, glucose-6-phosphate dehydrogenase deficiency and thalassemia on cholelithiasis. 61 54
16237771 2005
How malaria has affected the human genome and what human genetics can teach us about malaria. 54 61
16001361 2005
Two beta-globin cluster-linked polymorphic loci in thalassemia patients of variable levels of fetal hemoglobin. 61 54
15946310 2005
[Erythrocyte defects and parasitemia density in patients with Plasmodium falciparum malaria in Buenaventura, Colombia]. 61 54
16105323 2005
Genetic modifiers of beta-thalassemia. 61 54
15921380 2005
[Congenital hemolytic anemia]. 54 61
15773339 2005
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. 54 61
15768559 2005
Induction of fetal globin in beta-thalassemia: Cellular obstacles and molecular progress. 61 54
16339673 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 9.56 HBD HBB HBA2 HBA1
2 haptoglobin-hemoglobin complex GO:0031838 9.35 HBG1 HBD HBB HBA2 HBA1
3 endocytic vesicle lumen GO:0071682 9.33 HBB HBA2 HBA1
4 hemoglobin complex GO:0005833 9.1 HBG1 HBD HBB HBA2 HBA1 AHSP

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

# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.71 HBG1 HBD HBB GATA1
2 receptor-mediated endocytosis GO:0006898 9.61 HBB HBA2 HBA1
3 cellular oxidant detoxification GO:0098869 9.55 HBG1 HBD HBB HBA2 HBA1
4 response to hydrogen peroxide GO:0042542 9.54 HBB HBA2 HBA1
5 positive regulation of cell death GO:0010942 9.5 HBB HBA2 HBA1
6 bicarbonate transport GO:0015701 9.43 HBB HBA2 HBA1
7 hydrogen peroxide catabolic process GO:0042744 9.35 HBG1 HBD HBB HBA2 HBA1
8 oxygen transport GO:0015671 9.02 HBG1 HBD HBB HBA2 HBA1

Molecular functions related to Thalassemia 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 hemoglobin binding GO:0030492 9.43 HBB AHSP
7 organic acid binding GO:0043177 9.35 HBG1 HBD HBB HBA2 HBA1
8 haptoglobin binding GO:0031720 9.02 HBG1 HBD HBB HBA2 HBA1

Sources for Thalassemia

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
70 Tocris
72 UMLS via Orphanet
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