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MCID: THL005
MIFTS: 65

Thalassemia

Categories: Blood diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Immune diseases, Liver diseases, Nephrological diseases, Rare diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Thalassemia

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MalaCards integrated aliases for Thalassemia:

Name: Thalassemia 39 12 77 54 38 30 56 44 3 45 15 17 74
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

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases Fetal diseases
Anatomical: Immune diseases Blood diseases Nephrological diseases Endocrine diseases Liver diseases
See all MalaCards categories (disease lists)
ICD10: 34


External Ids:

Disease Ontology 12 DOID:10241
KEGG 38 H00228
ICD9CM 36 282.4 282.40
MeSH 45 D013789
NCIt 51 C35069
SNOMED-CT 69 40108008 84188003
ICD10 34 D56 D56.9
UMLS 74 C0039730
Sources

Summaries for Thalassemia

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MedlinePlus : 44 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 Mycophenolic acid and Basiliximab have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, testes and spleen, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

NIH Rare Diseases : 54 Thalassemia is an inheritedblood 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. 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.

Wikipedia : 77 Thalassemias are inherited blood disorders characterized by abnormal hemoglobin production. Symptoms... more...

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Related Diseases for Thalassemia

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Diseases in the Thalassemia family:

Alpha-Thalassemia Beta-Thalassemia

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

(show top 50) (show all 487)
# Related Disease Score Top Affiliating Genes
1 alpha-thalassemia/mental retardation syndrome, chromosome 16-related 34.3 HBA1 HBA2
2 hemoglobin lepore-beta-thalassemia syndrome 33.8 HBB HBD
3 fetal hemoglobin quantitative trait locus 1 33.8 HBB HBD HBG1
4 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome 33.7 HBB HBG1
5 alpha thalassemia-intellectual disability syndrome type 1 33.6 ATRX BCL11A HBA1 HBA2 HBB HBD
6 hydrops fetalis, nonimmune 32.9 HBA1 HBA2
7 hydrops fetalis 32.7 HBA1 HBA2
8 alpha-thalassemia 31.9 ATRX EPO G6PD HBA1 HBA2 HBB
9 hemoglobin h disease 31.7 AHSP ATRX EPO G6PD HBA1 HBA2
10 malaria 31.3 EPO G6PD HBA1 HBA2 HBB TFRC
11 hemoglobin e disease 31.2 HBB HBD HBE1 HBS1L
12 hemosiderosis 30.9 EPO HFE TFRC
13 iron metabolism disease 30.7 EPO HFE TFRC
14 deficiency anemia 30.7 AHSP EPO G6PD GATA1 HBA2 HBB
15 hemoglobinopathy 30.7 EPO HBA1 HBA2 HBB HBD HBE1
16 hemoglobin zurich 30.6 HBA2 HBB
17 iron deficiency anemia 30.5 EPO HFE TFRC
18 beta-thalassemia 30.5 AHSP BCL11A EPO G6PD GATA1 HBA1
19 hemoglobin d disease 30.4 HBB HBD
20 hemoglobin c disease 30.4 HBB HBD HBE1
21 heinz body anemias 30.3 HBA1 HBA2 HBB
22 siderosis 30.3 HBB HFE TFRC
23 methemoglobinemia, beta-globin type 30.2 HBA1 HBA2 HBB
24 microcytic anemia 30.1 EPO HBA1 HBA2 TFRC
25 neonatal anemia 30.0 EPO HBA2 HBG1
26 hemolytic anemia 29.9 EPO G6PD HBA1 HBA2 HBB
27 hypochromic microcytic anemia 29.9 HBA2 HBB
28 glucosephosphate dehydrogenase deficiency 29.9 G6PD HBB UGT1A1
29 sea-blue histiocyte disease 29.8 HBB HBE1
30 myelodysplastic syndrome 29.7 ATRX EPO GATA1 HFE TFRC
31 sickle cell disease 29.4 BCL11A EPO G6PD HBA2 HBB HBD
32 sickle cell anemia 29.2 BCL11A EPO G6PD HBA1 HBA2 HBB
33 congenital hemolytic anemia 28.6 EPO G6PD HBA2 HBB HBD HBE1
34 hereditary spherocytosis 28.3 G6PD GATA1 HBB HBE1 HBG1 HFE
35 sickle beta thalassemia 12.6
36 alpha-thalassemia/mental retardation syndrome, x-linked 12.6
37 alpha thalassemia-x-linked intellectual disability syndrome 12.6
38 beta-thalassemia, dominant inclusion body type 12.6
39 thrombocytopenia with beta-thalassemia, x-linked 12.5
40 alpha-thalassemia myelodysplasia syndrome 12.5
41 hemoglobin e-beta-thalassemia syndrome 12.3
42 sickle delta beta thalassemia 12.1
43 hemoglobin c-beta-thalassemia syndrome 12.1
44 alpha-thalassemia-abnormal morphogenesis 12.0
45 thalassemia, beta+, silent allele 12.0
46 mental retardation-hypotonic facies syndrome, x-linked, 1 11.5
47 hemochromatosis, type 1 11.4
48 congenital dyserythropoietic anemia 11.3
49 melioidosis 11.3
50 anemia, congenital dyserythropoietic, type iii 11.0

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


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

Graphical network of the top 20 diseases related to Thalassemia:



Diseases related to Thalassemia
Sources

Symptoms & Phenotypes for Thalassemia

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UMLS symptoms related to Thalassemia:


angina pectoris, edema, chest pain

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

27 (show all 13)
# 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
Sources

Drugs & Therapeutics for Thalassemia

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

(show top 50) (show all 298)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mycophenolic acid Approved Phase 4,Phase 2,Phase 1,Not Applicable 24280-93-1 446541
2
Basiliximab Approved, Investigational Phase 4 179045-86-4, 152923-56-3
3
Methotrexate Approved Phase 4,Phase 1,Phase 2 1959-05-2, 59-05-2 126941
4
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 1,Not Applicable 22916-47-8 4189
5
leucovorin Approved Phase 4,Phase 2,Not Applicable 58-05-9 143 6006
6
Deferiprone Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 30652-11-0 2972
7
Deferoxamine Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 70-51-9 2973
8
Iron Approved, Experimental Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 7439-89-6, 15438-31-0 27284 23925
9
Peginterferon alfa-2b Approved Phase 4 215647-85-1, 99210-65-8
10
Ribavirin Approved Phase 4,Phase 2 36791-04-5 37542
11
Peginterferon alfa-2a Approved, Investigational Phase 4,Phase 2 198153-51-4 5360545
12
Deferasirox Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 201530-41-8 5493381
13
Zoledronic Acid Approved Phase 4,Phase 2,Phase 3 118072-93-8 68740
14
Ledipasvir Approved Phase 4 1256388-51-8 67505836
15
Sofosbuvir Approved Phase 4 1190307-88-0 45375808
16
Velpatasvir Approved, Investigational Phase 4 1377049-84-7 67683363
17
Zinc sulfate Approved, Investigational Phase 4,Phase 2,Phase 1 7733-02-0
18
Zinc Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 7440-66-6 32051
19
Sodium Citrate Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 68-04-2
20
Busulfan Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 55-98-1 2478
21
Fludarabine Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 75607-67-9, 21679-14-1 30751
22
Cyclophosphamide Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 50-18-0, 6055-19-2 2907
23
Tacrolimus Approved, Investigational Phase 4,Phase 2,Phase 1 104987-11-3 6473866 445643 439492
24
Metformin Approved Phase 4,Early Phase 1 657-24-9 14219 4091
25
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Not Applicable 59-30-3 6037
26
Calcium Approved, Nutraceutical Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 7440-70-2 271
27
Vitamin D3 Approved, Nutraceutical Phase 4,Phase 2,Not Applicable 67-97-0 5280795 6221
28
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Not Applicable 1406-16-2
29
Ergocalciferol Approved, Nutraceutical Phase 4,Phase 2,Not Applicable 50-14-6 5280793
30
Citric Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 77-92-9 311
31
Calcifediol Approved, Nutraceutical Phase 4 19356-17-3 5283731 6433735
32 Anti-Bacterial Agents Phase 4,Phase 2,Phase 1,Not Applicable
33 Antimetabolites Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
34 Vitamin B Complex Phase 4,Phase 2,Not Applicable
35 Anti-Infective Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
36 Immunosuppressive Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
37 Antimetabolites, Antineoplastic Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
38 Immunologic Factors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
39 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
40 Antibiotics, Antitubercular Phase 4,Phase 2,Phase 1,Not Applicable
41 Antitubercular Agents Phase 4,Phase 2,Phase 1,Not Applicable
42 Vitamin B9 Phase 4,Phase 2,Not Applicable
43 Folate Phase 4,Phase 2,Not Applicable
44 Cyclosporins Phase 4,Phase 2,Phase 1,Not Applicable
45 Antifungal Agents Phase 4,Phase 2,Phase 1,Not Applicable
46 Dermatologic Agents Phase 4,Phase 2,Phase 1,Not Applicable
47 Antirheumatic Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
48 Folic Acid Antagonists Phase 4,Phase 2
49 Calcineurin Inhibitors Phase 4,Phase 2,Phase 1,Not Applicable
50 Calcium, Dietary Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable

Interventional clinical trials:

(show top 50) (show all 383)
# Name Status NCT ID Phase Drugs
1 Efficacy of Basiliximab in the Prevention of Acute Graft-versus-host Disease in Unrelated Allogeneic Hematopoietic Stem Cell Transplantation Therapy for Thalassemia Major Unknown status NCT02342145 Phase 4 Basiliximab,;cyclosporine A;Methotrexate;Mycophenolate mofetil
2 The Effect of Vitamin D Supplementation on Calcium Excretion in Thalassemia: a Dose Response Study Unknown status NCT01323608 Phase 4 Vitamin D3;Placebo
3 Combined Chelation Treatment With Deferiprone and Deferoxamine in Thalassemia Major Unknown status NCT00103753 Phase 4 deferiprone
4 B Memory Cell Response to Vaccination With the 13-valent Pneumococcal Conjugate Vaccine in Asplenic Individuals Unknown status NCT01846923 Phase 4
5 Interferon and Ribavirin Treatment in Patients With Hemoglobinopathies Unknown status NCT00887081 Phase 4 PEG-IFN alpha2a or PEG-IFN alpha2b and Ribavirin
6 Efficacy and Safety Study of Deferasirox in Patients With Non-transfusion Dependent Thalassemia Completed NCT01709838 Phase 4 ICL670 deferasirox
7 Evaluating the Efficacy of Deferasirox in Transfusion Dependent Chronic Anaemias (Myelodysplastic Syndrome, Beta-thalassaemia Patients) With Chronic Iron Overload Completed NCT00564941 Phase 4 deferasirox
8 Sofosbuvir/Ledipasvir for Hepatitis C Genotype 1-6 in Patients With Transfusion-Dependent Thalassemia: An Open Label Trial Completed NCT03032666 Phase 4 sofosbuvir/velpatasvir
9 Pneumococcal Vaccination for Splenectomised Thalassemia Major Patients in Indonesia Completed NCT03095326 Phase 4 Sucrose
10 Evaluation of Efficacy of Zoledronic Acid in Patients With Haemoglobin Syndromes (Thalassemia and Sicle Cell Anaemia) and Risk of Skeletal Events Completed NCT00346242 Phase 4 Zoledronic Acid
11 Post Hematopoietic Stem Cell Transplantation Completed NCT01610297 Phase 4 ICL670
12 Zinc Supplementation on Cellular Immunity in Thalassemia Major Completed NCT03117192 Phase 4 Zinc Sulfate;Sucrose Syrup
13 This Study Will Evaluate Efficacy and Safety of Deferasirox in Patients With Myelodysplastic Syndromes (MDS), Thalassemia and Rare Anemia Types Having Transfusion-induced Iron Overload. Completed NCT01250951 Phase 4 Deferasirox
14 Efficacy Study of the Use of Sequential DFP-DFO Versus DFP Completed NCT00733811 Phase 4 Deferiprone (DFP) and Deferoxamine (DFO);Deferiprone (DFP)
15 Combo Chelation Trial Completed NCT00901199 Phase 4 Combo Chelation with Deferasirox (Exjade) and Desferal (DFO)
16 Intensive Combined Chelation Therapy for Iron-Induced Cardiac Disease in Patients With Thalassemia Major Completed NCT00800761 Phase 4 Deferoxamine and Deferiprone;Deferoxamine
17 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 Deferasirox
18 Hyalornic Acid Level in β-Thalassemic Children Treated for Hepatitis C Virus Completed NCT03961828 Phase 4 Ledipasvir 90 MG / Sofosbuvir 400 MG [Harvoni]
19 Efficacy Study in Removing Excess Iron From the Heart Completed NCT00105495 Phase 4 Ferriprox (deferiprone);Desferal (deferoxamine)
20 Pegasys® Plus Ribavirin in Thalassemic Patients With Hepatitis C Virus Infection Completed NCT00707850 Phase 4 PEGASYS® (Peginterferon Alfa-2a (40KD)) Plus COPEGUS® (Ribavirin)
21 An Epidemiological Study to Assess Iron Overload Using MRI in Patients With Transfusional Siderosis (TIMES Study) Completed NCT01736540 Phase 4
22 Pilot Study for Patients With Poor Response to Deferasirox Completed NCT00749515 Phase 4 Deferoxamine;Deferasirox
23 Magnetic Resonance Imaging (MRI) Assessments of the Heart and Liver Iron Load in Patients With Transfusion Induced Iron Overload Completed NCT00673608 Phase 4 deferasirox
24 L-arginine Versus Sildenafil in Children With Beta Thalassemia Associated With Pulmonary Hypertension Recruiting NCT03402191 Phase 4 L-arginine;Sildenafil
25 Colla Corii Asini Treating 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
26 Haploidentical Hematopoietic Stem Cell Transplantation for Patients With Thalassemia Major Recruiting NCT03171831 Phase 4 Busulfan;Cyclophosphamide;Fludarabine;Mycophenolate mofetil;Tacrolimus;Methotrexate;Thymoglobulin;Basiliximab
27 Study on the Mechanism of Colla Corri Asini in the Treatment of Thalassemia Patients With Pregnancy Anemia Recruiting NCT03392298 Phase 4 Colla corii asini
28 The Potential Hepatoprotective Effect of Metformin in Patients With Beta Thalassemia Major Recruiting NCT02984475 Phase 4 Metformin
29 Safety and Efficacy of Early Treatment With Deferiprone in Infants and Young Children Recruiting NCT03591575 Phase 4 Deferiprone oral solution;Placebo
30 A Randomized Phase IV Control Trial of Single High Dose Oral Vitamin D3 in Pediatric Patients Undergoing HSCT Enrolling by invitation NCT03176849 Phase 4
31 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
32 Effect of Deferasirox on Endocrine Complications in Subjects With Transfusion Dependent Thalassemia Withdrawn NCT02069886 Phase 4 deferasirox
33 Zoledronic Acid for the Prevention of Bone Loss Post-bone Marrow Transplantation for Thalassemia Major Patients Unknown status NCT01016093 Phase 2, Phase 3 Zoledronic acid;Placebo
34 An Algorithm to Start Iron Chelation in Minimally Transfused Young Beta-thalassemia Major Patients Unknown status NCT02173951 Phase 2, Phase 3 Deferiprone
35 Therapeutic Effects of Silymarin in Patients With B-thalassemia Major Unknown status NCT00999349 Phase 2, Phase 3 Silymarin (LEGALON);Placebo
36 Therapeutic Effect and Safety of Combined Hydroxyurea With Recombinant Human Erythropoietin. Unknown status NCT01624038 Phase 2, Phase 3 Hydroxyurea ,Epiao;hydroxyurea, blood transfusion
37 Role of Vitamin C to Augment Iron Chelation With DFP or DFX Unknown status NCT02083575 Phase 2, Phase 3 Vitamin C, Defriprone, deferisarox;deferiprone , deferesarox
38 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 DFP (ferriprox) and deferasirox (ICL 670);DFP, DFO
39 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
40 Zinc Supplementation in Patients With β-Thalassemia Major Complicated With Diabetes Mellitus Completed NCT03851055 Phase 3 Zinc
41 Effect of Metoprolol on Thalassemia Cardiomyopathy Completed NCT01863173 Phase 2, Phase 3 metoprolol;placebo
42 Amlodipine Use in the Prevention and Treatment of Iron Overload in Patients With Thalassemia Major Completed NCT01125254 Phase 2, Phase 3 Amlodipine
43 Amlodipine in the Prevention and Treatment of Iron Overload in Patients With Thalassemia Major Completed NCT01395199 Phase 3 Amlodipine
44 Sildenafil to Improve Exercise Capacity in People With Thalassemia and Pulmonary Hypertension Completed NCT00872170 Phase 2, Phase 3 Sildenafil
45 Study to Evaluate Efficacy and Safety of S303 Treated Red Blood Cells (RBCs)in Subjects With Thalassemia Major Requiring Chronic RBC Transfusion Completed NCT01740531 Phase 3
46 A Phase III Safety and Efficacy Study of L-Glutamine to Treat Sickle Cell Disease or Sickle βo-thalassemia Completed NCT01179217 Phase 3 L-glutamine;Placebo
47 An Extension Study of Iron Chelation Therapy With Deferasirox (ICL670) in β-thalassemia Patients With Transfusional Iron Overload Completed NCT00171210 Phase 3 Deferasirox
48 Amlodipine for Myocardial Iron in Thalassemia Completed NCT02065492 Phase 2, Phase 3 Standard Chelation;Amlodipine
49 A Study of Long-term Treatment With Deferasirox in Patients With Beta-thalassemia and Transfusional Hemosiderosis Completed NCT00171171 Phase 3 deferasirox
50 Safety & Efficacy of ICL670 vs. Deferoxamine in Beta-thalassemia Patients With Iron Overload Due to Blood Transfusions Completed NCT00061750 Phase 3 ICL670;deferoxamine

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.
Stem-cell-based therapeutic approaches for Thalassemia:
Hematopoietic stem cell transplantation for the treatment of genetic blood cell-related diseases
Embryonic/Adult Cultured Cells Related to Thalassemia:
Umbilical cord blood-derived hematopoietic stem cells (family)
Bone marrow-derived hematopoietic stem cells (family)

Cochrane evidence based reviews: thalassemia

Sources

Genetic Tests for Thalassemia

About this section

Genetic tests related to Thalassemia:

# Genetic test Affiliating Genes
1 Thalassemia 30
Sources

Anatomical Context for Thalassemia

About this section

MalaCards organs/tissues related to Thalassemia:

42
Bone Marrow, Testes, Spleen, Skin, Kidney, Bone, Thyroid
Sources

Publications for Thalassemia

About this section

Articles related to Thalassemia:

(show top 50) (show all 6128)
# Title Authors Year
1
Successful Treatment of Acute Chest Syndrome with Manual Exchange Transfusion in a Patient with Sickle Beta+-thalassemia. ( 30713307 )
2019
2
Influence of alpha thalassemia on clinical and laboratory parameters among nigerian children with sickle cell anemia. ( 30129219 )
2019
3
Borderline hemoglobin A2 levels in northern Thai population: HBB genotypes and effects of coinherited alpha-thalassemia. ( 30309760 )
2019
4
The population dynamics of hemoglobins A, A2, F and S in the context of the hemoglobinopathies HbS and α-thalassemia in Kenyan infants. ( 30467202 )
2019
5
Novel nonsense mutation in the α1-globin gene [HBA1:C.49A>T] is responsible for non-deletion α-thalassemia. ( 30595158 )
2019
6
Co-inheritance of alpha thalassemia dramatically decreases the risk of acute splenic sequestration in a large cohort of newborns with hemoglobin SC. ( 30630972 )
2019
7
X-linked α-thalassemia with mental retardation is downstream of protein kinase A in the meiotic cell cycle signaling cascade in Xenopus oocytes and is dynamically regulated in response to DNA damage†. ( 30649195 )
2019
8
The best cutoff value of middle cerebral artery peak systolic velocity for the diagnosis of fetal homozygous alpha thalassemia-1 disease. ( 30650188 )
2019
9
Severe hemolytic anemia due to combined α thalassemia and de novo Hemoglobin Sabine. ( 30673812 )
2019
10
First Report of Association Between Rare α-Thalassemia Mutation (HBA1: c.298A>T) and Hb Fontainebleau (HBA2: c.64G>C). ( 30728682 )
2019
11
A diagnosis of discernment: Identifying a novel ATRX mutation in myelodysplastic syndrome with acquired α-thalassemia. ( 30803555 )
2019
12
First Report on the Coinheritance of α-Thalassemia and a Rare β-Thalassemia Compound Heterozygosity for the IVS-I-I(G>A)/IVS-II-705(T>G) Mutations in a Syrian Family. ( 30843739 )
2019
13
Prenatal Ultrasound Presentations in Late Pregnancies Affected With Alpha Thalassemia Major. ( 30922164 )
2019
14
Authors' Response: Prenatal Ultrasound Presentations in Late Pregnancies Affected With Alpha Thalassemia Major. ( 30922165 )
2019
15
Increased endothelial activation in α-thalassemia disease. ( 30953084 )
2019
16
Alpha-Thalassemia in North Morocco: Prevalence and Molecular Spectrum. ( 31001551 )
2019
17
Molecular analysis of a large novel deletion causing α+-thalassemia. ( 31060505 )
2019
18
Compound Heterozygote for a Novel Elongated C-Terminal β-Globin Variant (HBB: c.364delG) and Hb E (HBB: c.79G>A) with Heterozygous α-Thalassemia-2. ( 31106603 )
2019
19
Polymorphisms of α-Globin Genes Compromise Polymerase Chain Reaction-Based α-Thalassemia Genotyping in Three Chinese Families. ( 31111755 )
2019
20
Atrial fibrillation in β-thalassemia patients with a focus on the role of iron-overload and oxidative stress: A review. ( 30536543 )
2019
21
The improvement of pulmonary artery pressure after bosentan therapy in patients with β-thalassemia and Doppler-defined pulmonary arterial hypertension. ( 30588128 )
2019
22
Results of Coexistence of β-Thalassemia Minor in Hb H Disease Patients. ( 30614310 )
2019
23
Luspatercept improves hemoglobin levels and blood transfusion requirements in a study of patients with beta-thalassemia. ( 30617198 )
2019
24
β-Thalassemia Mutations in Jamaica: Geographic Variation in Small Communities. ( 30626236 )
2019
25
An ICET-A survey on occult and emerging endocrine complications in patients with β-thalassemia major: Conclusions and recommendations. ( 30657116 )
2019
26
Differentially expressed plasma proteins of β-thalassemia/hemoglobin E patients in response to curcuminoids/vitamin E antioxidant cocktails. ( 30661467 )
2019
27
Long non-coding RNAs MALAT1, MIAT and ANRIL gene expression profiles in beta-thalassemia patients: a cross-sectional analysis. ( 30665334 )
2019
28
Haplotype Analysis of Three Common β-Thalassemia Mutations in Syrian Patients. ( 30669902 )
2019
29
Bone Mineral Density and Vitamin D Receptor Genetic Variants in Egyptian Children with Beta Thalassemia Major on Vitamin D Supplementation. ( 30671219 )
2019
30
Quality of Life and Depression in Turkish Patients with β-Thalassemia Major: A Cross-Sectional Study. ( 30672351 )
2019
31
Can Couples With MCV≥80, MCH<26, HbA2<3.2, HbF<3 be Classified as Low-risk β-Thalassemia Group? ( 30676434 )
2019
32
Antibody persistence 5 years after a 13-valent pneumococcal conjugate vaccine in asplenic patients with β-thalassemia: assessing the need for booster. ( 30683996 )
2019
33
The effect of splenectomy on complement regulatory proteins in erythrocytes in β-thalassemia major. ( 30697270 )
2019
34
Blood transfusion therapy for β-thalassemia major and hemoglobin E β-thalassemia: Adequacy, trends, and determinants in Sri Lanka. ( 30697927 )
2019
35
Innovative Curative Treatment of Beta Thalassemia: Cost-Efficacy Analysis of Gene Therapy Versus Allogenic Hematopoietic Stem-Cell Transplantation. ( 30700149 )
2019
36
Quality of Life of Pakistani Children with β-Thalassemia Major. ( 30700180 )
2019
37
Editing aberrant splice sites efficiently restores β-globin expression in β-thalassemia. ( 30704988 )
2019
38
Phenotypic heterogeneity of delta-beta thalassemia. ( 30706898 )
2019
39
Refugee children with beta-thalassemia in Turkey: Overview of demographic, socioeconomic, and medical characteristics. ( 30706992 )
2019
40
Cardiac complications and iron overload in beta thalassemia major patients-a systematic review and meta-analysis. ( 30729283 )
2019
41
Clinical and economic burden of regularly transfused adult patients with β-thalassemia in the United States: A retrospective cohort study using payer claims. ( 30734350 )
2019
42
N-terminal-pro-b-type natriuretic peptide levels and cardiac hemosiderosis in adolescent β-thalassemia major patients. ( 30745767 )
2019
43
Krüppel-Like Factor 1 Gene Mutations in Thalassemia Patients from North Iran: Report of a New Mutation Associated with β-Thalassemia Intermedia. ( 30747024 )
2019
44
Defective cytokine production from monocytes/macrophages of E-beta thalassemia patients in response to Pythium insidiosum infection. ( 30765134 )
2019
45
Reflection of treatment proficiency of hydroxyurea treated β-thalassemia serum samples through nuclear magnetic resonance based metabonomics. ( 30765825 )
2019
46
Occult hepatitis C virus infection in patients with beta-thalassemia major: Is it a neglected and unexplained phenomenon? ( 30775813 )
2019
47
Hb Knossos (HBB: c.82G > T), β-globin CD 5 (-CT) (HBB: c.17_18delCT) and δ-globin CD 59 (-a) (HBD: c.179delA) mutations in a Syrian patient with β-thalassemia intermedia. ( 30777047 )
2019
48
Pulmonary functions in Egyptian children with transfusion-dependent β-thalassemia. ( 30779248 )
2019
49
New thiazolidinones reduce iron overload in mouse models of hereditary hemochromatosis and β-thalassemia. ( 30792208 )
2019
50
Validation of Microarray for the Simultaneous Detection of Common α- and β-Thalassemia Gene Mutations. ( 30806653 )
2019
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Variations for Thalassemia

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Expression for Thalassemia

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Search GEO for disease gene expression data for Thalassemia.
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Pathways for Thalassemia

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Pathways related to Thalassemia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Glucose / Energy Metabolism 4
12.16 G6PD HBB HBG1 UGT1A1
2
Binding and Uptake of Ligands by Scavenger Receptors 67
Show member pathways
 11.51 HBA1 HBA2 HBB
3
Factors involved in megakaryocyte development and platelet production 67
11.22 GATA1 HBB HBD HBE1 HBG1
4
Malaria 38
11.12 HBA1 HBA2 HBB
5
African trypanosomiasis 38
10.9 HBA1 HBA2 HBB
6
Erythrocytes take up carbon dioxide and release oxygen 67
Show member pathways
 10.68 HBA1 HBA2 HBB
Sources

GO Terms for Thalassemia

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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 HBA1 HBA2 HBB HBD HBE1 TFRC
2 hemoglobin complex GO:0005833 9.56 AHSP HBA1 HBA2 HBB HBD HBE1
3 endocytic vesicle lumen GO:0071682 9.43 HBA1 HBA2 HBB
4 HFE-transferrin receptor complex GO:1990712 9.32 HFE TFRC
5 haptoglobin-hemoglobin complex GO:0031838 9.17 HBA1 HBA2 HBB HBD HBE1 HBG1

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

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 HBA1 HBA2 HBB HBD HBE1 HBG1
2 oxygen binding GO:0019825 9.87 HBA1 HBA2 HBB HBD HBE1 HBG1
3 peroxidase activity GO:0004601 9.8 HBA1 HBA2 HBB HBD HBE1 HBG1
4 haptoglobin binding GO:0031720 9.7 HBA1 HBA2 HBB HBD HBE1 HBG1
5 iron ion binding GO:0005506 9.63 HBA1 HBA2 HBZ
6 hemoglobin alpha binding GO:0031721 9.58 HBB HBD HBE1
7 organic acid binding GO:0043177 9.5 HBA1 HBA2 HBB HBD HBE1 HBG1
8 hemoglobin binding GO:0030492 9.43 AHSP HBB
9 oxygen carrier activity GO:0005344 9.17 HBA1 HBA2 HBB HBD HBE1 HBG1
10 metal ion binding GO:0046872 10.18 ATRX BCL11A GATA1 HBA1 HBA2 HBB
Sources

Sources for Thalassemia

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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