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MCID: THL005
MIFTS: 64

Thalassemia

Categories: Rare diseases, Genetic diseases, Blood diseases, Immune diseases, Nephrological diseases, Endocrine 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 38 12 76 53 37 29 55 43 3 44 15 73
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
Anatomical: Blood diseases Immune diseases Nephrological diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 33


External Ids:

Disease Ontology 12 DOID:10241
ICD10 33 D56 D56.9
ICD9CM 35 282.4 282.40
MeSH 44 D013789
NCIt 50 C35069
KEGG 37 H00228
UMLS 73 C0039730
Sources

Summaries for Thalassemia

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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, chest pain and edema. An important gene associated with Thalassemia is MIR144 (MicroRNA 144
Precise transcriptional control of developmental stage-specific expression and switching of alpha- and beta-globin genes is significantly important to understand the general principles controlling gene expression and the pathogenesis of thalassemia. Although transcription factors regulating beta-globin genes have been identified, little is known about the microRNAs and trans-acting mechanism controlling alpha-globin genes transcription.Here, we show that an erythroid lineage-specific microRNA gene, miR-144, expressed at specific developmental stages during zebrafish embryogenesis, negatively regulates the embryonic alpha-globin, but not embryonic beta-globin genes expression, through physiologically targeting klfd, an erythroid-specific Kruppel-like transcription factor. Klfd selectively binds to the CACCC boxes in the promoters of both alpha-globin and miR-144 genes to activate their transcriptions, thus forming a negative feedback circuitry to fine-tune the expression of embryonic alpha-globin gene. The selective effect of miR-144-Klfd pathway on globin gene regulation may thereby constitute a novel therapeutic target for improving the clinical outcome of patients with thalassemia.), and among its related pathways/superpathways are Binding and Uptake of Ligands by Scavenger Receptors and HIF-1 signaling pathway. The drugs Deferiprone and Deferoxamine have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and liver, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

NIH Rare Diseases : 53 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 : 76 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 336)
# Related Disease Score Top Affiliating Genes
1 alpha-thalassemia/mental retardation syndrome, chromosome 16-related 34.9 HBA1 HBA2
2 hemoglobin lepore-beta-thalassemia syndrome 34.3 HBB HBD
3 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome 34.1 HBB HBG1
4 fetal hemoglobin quantitative trait locus 1 34.1 HBB HBD HBG1
5 hydrops fetalis, nonimmune 32.8 HBA1 HBA2
6 hydrops fetalis 32.0 HBA1 HBA2
7 malaria 31.0 EPO HBA1 HBA2 HBB TFRC
8 hemoglobin c disease 30.6 HBB HBD HBE1
9 alpha-thalassemia 30.5 ATRX EPO HBA1 HBA2 HBB HBE1
10 hemoglobin e disease 30.5 HBB HBD HBE1 HBS1L
11 hemochromatosis, type 1 30.3 HBB HFE TF TFRC
12 hemolytic anemia 30.2 EPO HBA1 HBA2 HBB
13 neonatal anemia 30.0 EPO HBA2
14 hypochromic microcytic anemia 29.6 HBA2 HBB TF
15 glucosephosphate dehydrogenase deficiency 29.5 HBB UGT1A1
16 hemoglobin h disease 29.3 AHSP ATRX EPO HBA1 HBA2 HBB
17 hemosiderosis 28.9 EPO HFE TF TFRC
18 iron metabolism disease 28.8 EPO HFE TF TFRC
19 siderosis 28.8 HBB HFE TF TFRC
20 iron deficiency anemia 28.7 EPO HFE TF TFRC
21 porphyria 28.7 GATA1 HFE TF
22 sickle cell disease 28.5 BCL11A EPO HBA2 HBB HBD HBG1
23 deficiency anemia 28.5 AHSP EPO GATA1 HBA2 HBB HFE
24 microcytic anemia 28.5 EPO HBA1 HBA2 TF TFRC
25 sickle cell anemia 28.5 BCL11A EPO HBA1 HBA2 HBB HBG1
26 hemoglobinopathy 28.4 EPO HBA1 HBA2 HBB HBD HBE1
27 hereditary spherocytosis 28.3 GATA1 HBB HBE1 HBG1 HFE UGT1A1
28 porphyria cutanea tarda 28.2 HFE TF TFRC
29 myelodysplastic syndrome 27.4 ATRX EPO GATA1 HFE TF TFRC
30 congenital hemolytic anemia 27.2 EPO HBA2 HBB HBD HBE1 HBG1
31 beta-thalassemia 26.0 AHSP BCL11A EPO GATA1 HBA1 HBA2
32 sickle beta thalassemia 12.5
33 alpha-thalassemia/mental retardation syndrome, x-linked 12.4
34 alpha thalassemia-x-linked intellectual disability syndrome 12.4
35 beta-thalassemia, dominant inclusion body type 12.4
36 alpha-thalassemia myelodysplasia syndrome 12.3
37 thrombocytopenia with beta-thalassemia, x-linked 12.2
38 alpha thalassemia-intellectual disability syndrome type 1 12.2
39 alpha-thalassemia-abnormal morphogenesis 12.1
40 hemoglobin e-beta-thalassemia syndrome 12.1
41 hemoglobin c-beta-thalassemia syndrome 11.9
42 thalassemia, beta+, silent allele 11.8
43 sickle delta beta thalassemia 11.8
44 mental retardation-hypotonic facies syndrome, x-linked, 1 11.3
45 congenital dyserythropoietic anemia 11.1
46 melioidosis 11.1
47 hemoglobin zurich 11.0 HBA2 HBB
48 hemoglobin d disease 10.9 HBB HBD
49 diabetes mellitus, insulin-dependent, 24 10.9 HBA1 HBA2
50 malignant secondary hypertension 10.8 HBB HBD

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, chest pain, edema

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

26 (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 265)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Deferiprone Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 30652-11-0 2972
2
Deferoxamine Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 70-51-9 2973
3
Iron Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 7439-89-6 23925
4
Peginterferon alfa-2a Approved, Investigational Phase 4,Phase 2 198153-51-4 5360545
5
Peginterferon alfa-2b Approved Phase 4 99210-65-8, 215647-85-1
6
Ribavirin Approved Phase 4,Phase 2 36791-04-5 37542
7
Deferasirox Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 201530-41-8 5493381
8
Zoledronic acid Approved Phase 4,Phase 2,Phase 3 118072-93-8 68740
9
Fludarabine Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 21679-14-1, 75607-67-9 30751
10
Zinc Approved, Investigational Phase 4,Phase 2,Phase 1,Not Applicable 7440-66-6 23994
11
Zinc sulfate Approved, Investigational Phase 4,Phase 2,Phase 1 7733-02-0
12
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 1,Not Applicable 22916-47-8 4189
13
Mycophenolate mofetil Approved, Investigational Phase 4,Phase 2,Phase 1,Not Applicable 128794-94-5 5281078
14
Mycophenolic acid Approved Phase 4,Phase 2,Phase 1,Not Applicable 24280-93-1 446541
15
Busulfan Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 55-98-1 2478
16
Cyclophosphamide Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 50-18-0, 6055-19-2 2907
17
Tacrolimus Approved, Investigational Phase 4,Phase 1,Phase 2 104987-11-3 445643 439492
18
Basiliximab Approved, Investigational Phase 4 152923-56-3, 179045-86-4
19
Methotrexate Approved Phase 4,Phase 1,Phase 2 1959-05-2, 59-05-2 126941
20
Ledipasvir Approved Phase 4 1256388-51-8 67505836
21
Sofosbuvir Approved Phase 4 1190307-88-0 45375808
22
Metformin Approved Phase 4,Early Phase 1 657-24-9 14219 4091
23
Ergocalciferol Approved, Nutraceutical Phase 4,Phase 2 50-14-6 5280793
24
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 2 1406-16-2
25
Vitamin D3 Approved, Nutraceutical Phase 4,Phase 2 67-97-0 6221 5280795
26
Citric Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 77-92-9 311
27
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Not Applicable 59-30-3 6037
28
leucovorin Approved, Nutraceutical Phase 4,Phase 2,Not Applicable 58-05-9 143 6006
29 Bone Density Conservation Agents Phase 4,Phase 2,Phase 3
30 Calcium, Dietary Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
31 Ergocalciferols Phase 4,Phase 2
32 Micronutrients Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
33 Trace Elements Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
34 Vitamins Phase 4,Phase 2,Phase 3,Not Applicable
35 Chelating Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
36 Iron Chelating Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
37 Heptavalent Pneumococcal Conjugate Vaccine Phase 4
38 Vaccines Phase 4,Early Phase 1
39 Anti-Infective Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
40 Antimetabolites Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
41 Antiviral Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
42 Interferon-alpha Phase 4,Phase 2
43 interferons Phase 4,Phase 2
44 Diphosphonates Phase 4,Phase 2,Phase 3
45 Liver Extracts Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
46 Antimetabolites, Antineoplastic Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
47 Immunosuppressive Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
48 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
49 Astringents Phase 4,Phase 2
50 Dermatologic Agents Phase 4,Phase 2,Phase 1,Not Applicable

Interventional clinical trials:

(show top 50) (show all 341)
# 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 Combined Chelation Treatment With Deferiprone and Deferoxamine in Thalassemia Major Unknown status NCT00103753 Phase 4 deferiprone
3 B Memory Cell Response to Vaccination With the 13-valent Pneumococcal Conjugate Vaccine in Asplenic Individuals Unknown status NCT01846923 Phase 4
4 Interferon and Ribavirin Treatment in Patients With Hemoglobinopathies Unknown status NCT00887081 Phase 4 PEG-IFN alpha2a or PEG-IFN alpha2b and Ribavirin
5 Evaluating the Efficacy of Deferasirox in Transfusion Dependent Chronic Anaemias (Myelodysplastic Syndrome, Beta-thalassaemia Patients) With Chronic Iron Overload Completed NCT00564941 Phase 4 deferasirox
6 Pneumococcal Vaccination for Splenectomised Thalassemia Major Patients in Indonesia Completed NCT03095326 Phase 4 Sucrose
7 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
8 Post Hematopoietic Stem Cell Transplantation Completed NCT01610297 Phase 4 ICL670
9 Zinc Supplementation on Cellular Immunity in Thalassemia Major Completed NCT03117192 Phase 4 Zinc Sulfate;Sucrose Syrup
10 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
11 Efficacy Study of the Use of Sequential DFP-DFO Versus DFP Completed NCT00733811 Phase 4 Deferiprone (DFP) and Deferoxamine (DFO);Deferiprone (DFP)
12 Combo Chelation Trial Completed NCT00901199 Phase 4 Combo Chelation with Deferasirox (Exjade) and Desferal (DFO)
13 Intensive Combined Chelation Therapy for Iron-Induced Cardiac Disease in Patients With Thalassemia Major Completed NCT00800761 Phase 4 Deferoxamine and Deferiprone;Deferoxamine
14 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
15 Efficacy Study in Removing Excess Iron From the Heart Completed NCT00105495 Phase 4 Ferriprox (deferiprone);Desferal (deferoxamine)
16 Pegasys® Plus Ribavirin in Thalassemic Patients With Hepatitis C Virus Infection Completed NCT00707850 Phase 4 PEGASYS® (Peginterferon Alfa-2a (40KD)) Plus COPEGUS® (Ribavirin)
17 An Epidemiological Study to Assess Iron Overload Using MRI in Patients With Transfusional Siderosis (TIMES Study) Completed NCT01736540 Phase 4
18 Pilot Study for Patients With Poor Response to Deferasirox Completed NCT00749515 Phase 4 Deferoxamine;Deferasirox
19 Magnetic Resonance Imaging (MRI) Assessments of the Heart and Liver Iron Load in Patients With Transfusion Induced Iron Overload Completed NCT00673608 Phase 4 deferasirox
20 L-arginine Versus Sildenafil in Children With Beta Thalassemia Associated With Pulmonary Hypertension Recruiting NCT03402191 Phase 4 L-arginine;Sildenafil
21 Efficacy of Basiliximab in the Prevention of Acute Graft-versus-host Disease in Unrelated Allogeneic Hematopoietic Stem Cell Transplantation Therapy for Thalassemia Major Recruiting NCT02342145 Phase 4 Basiliximab,;cyclosporine A;Methotrexate;Mycophenolate mofetil
22 Haploidentical Hematopoietic Stem Cell Transplantation for Patients With Thalassemia Major Recruiting NCT03171831 Phase 4 Busulfan;Cyclophosphamide;Fludarabine;Mycophenolate mofetil;Tacrolimus;Methotrexate;Thymoglobulin;Basiliximab
23 Study on the Mechanism of Colla Corri Asini in the Treatment of Thalassemia Patients With Pregnancy Anemia Recruiting NCT03392298 Phase 4 Colla corii asini
24 Sofosbuvir/Ledipasvir for Hepatitis C Genotype 1-6 in Patients With Transfusion-Dependent Thalassemia: An Open Label Trial Recruiting NCT03032666 Phase 4 sofosbuvir/velpatasvir
25 The Potential Hepatoprotective Effect of Metformin in Patients With Beta Thalassemia Major Recruiting NCT02984475 Phase 4 Metformin
26 Efficacy and Safety Study of Deferasirox in Patients With Non-transfusion Dependent Thalassemia Active, not recruiting NCT01709838 Phase 4 ICL670 deferasirox
27 Colla Corii Asini Treating Anemia in Pregnant Women With Thalassemia(Presenting the Syndrome of Blood Deficiency) Not yet recruiting NCT03374111 Phase 4 Colla corii asini;a Simulate Agent of Colla corii asini granule
28 A Randomized Phase IV Control Trial of Single High Dose Oral Vitamin D3 in Pediatric Patients Undergoing HSCT Not yet recruiting NCT03176849 Phase 4
29 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
30 Effect of Deferasirox on Endocrine Complications in Subjects With Transfusion Dependent Thalassemia Withdrawn NCT02069886 Phase 4 deferasirox
31 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
32 An Algorithm to Start Iron Chelation in Minimally Transfused Young Beta-thalassemia Major Patients Unknown status NCT02173951 Phase 2, Phase 3 Deferiprone
33 Therapeutic Effects of Silymarin in Patients With B-thalassemia Major Unknown status NCT00999349 Phase 2, Phase 3 Silymarin (LEGALON);Placebo
34 Therapeutic Effect and Safety of Combined Hydroxyurea With Recombinant Human Erythropoietin. Unknown status NCT01624038 Phase 2, Phase 3 Hydroxyurea ,Epiao;hydroxyurea, blood transfusion
35 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
36 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
37 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
38 Effect of Metoprolol on Thalassemia Cardiomyopathy Completed NCT01863173 Phase 2, Phase 3 metoprolol;placebo
39 Amlodipine Use in the Prevention and Treatment of Iron Overload in Patients With Thalassemia Major Completed NCT01125254 Phase 2, Phase 3 Amlodipine
40 Amlodipine in the Prevention and Treatment of Iron Overload in Patients With Thalassemia Major Completed NCT01395199 Phase 3 Amlodipine
41 Sildenafil to Improve Exercise Capacity in People With Thalassemia and Pulmonary Hypertension Completed NCT00872170 Phase 2, Phase 3 Sildenafil
42 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
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 Amlodipine for Myocardial Iron in Thalassemia Completed NCT02065492 Phase 2, Phase 3 Standard Chelation;Amlodipine
45 A Study of Long-term Treatment With Deferasirox in Patients With Beta-thalassemia and Transfusional Hemosiderosis Completed NCT00171171 Phase 3 deferasirox
46 Safety & Efficacy of ICL670 vs. Deferoxamine in Beta-thalassemia Patients With Iron Overload Due to Blood Transfusions Completed NCT00061750 Phase 3 ICL670;deferoxamine
47 Efficacy/Safety Study of Deferiprone Compared to Deferasirox in Paediatric Patients Completed NCT01825512 Phase 3 Deferiprone;Deferasirox
48 Expanded Access of Deferasirox to Patients With Congenital Disorders of Red Blood Cells and Chronic Iron Overload Completed NCT00235391 Phase 3 Deferasirox
49 Efficacy and Safety of the Iron Chelator Deferiprone in Parkinson's Disease Completed NCT00943748 Phase 2, Phase 3 deferiprone;placebo
50 A Trial of Hydroxyurea in Spinal Muscular Atrophy Completed NCT00485511 Phase 2, Phase 3 Hydroxyurea

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 29
Sources

Anatomical Context for Thalassemia

About this section

MalaCards organs/tissues related to Thalassemia:

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

Publications for Thalassemia

About this section

Articles related to Thalassemia:

(show top 50) (show all 2966)
# Title Authors Year
1
Inhibition of heme oxygenase ameliorates anemia and reduces iron overload in a I^-thalassemia mouse model. ( 29180398 )
2018
2
Hypertriglyceridemia thalassemia syndrome. ( 29902156 )
2018
3
Risk factors for heart disease in transfusion-dependent thalassemia: serum ferritin revisited. ( 29948832 )
2018
4
Vascular endothelial growth factor and pulmonary hypertension in children with beta thalassemia major. ( 29859904 )
2018
5
A Compound Heterozygous Asian Indian Inversion Deletion GI^(AI^I'I^)<sup>0</sup>with I^-Thalassemia in Central India: A Case Report. ( 29398830 )
2018
6
Identification of Three Types of I+-Thalassemia Deletion, -I+<sup>21.9</sup>, -I+<sup>2.4</sup>, and -a88-<sup>THAI</sup>, and Their Frequencies, in One Family in the Population of Southern Guangxi Zhuang Autonomous Region, People's Republic of China. ( 29447013 )
2018
7
The Frequency and Importance of Common I+-globin Gene Deletions Among I^-Thalassemia Carriers in an Iranian Population. ( 29849219 )
2018
8
Clinical utility of endocrine markers predicting myocardial siderosis in transfusion dependent thalassemia major. ( 29893484 )
2018
9
Hb Adana (HBA2 or HBA1: c.179GA &amp;gt;A A) and alpha thalassemia: Genotype-phenotype correlation. ( 29749692 )
2018
10
Under-recognized Hypoparathyroidism in Thalassemia. ( 29726397 )
2018
11
An investigation of the effects of curcumin on iron overload, hepcidin level, and liver function in I^-thalassemia major patients: A double-blind randomized controlled clinical trial. ( 29806132 )
2018
12
Safety and Efficacy of Sofosbuvir and Daclatasvir for Hepatitis C Virus Infection in Patients with I^-Thalassemia Major. ( 29743790 )
2018
13
The incidental detection of alpha thalassemia. ( 29576180 )
2018
14
Efficacy and safety of resveratrol, an oral hemoglobin F-augmenting agent, in patients with beta-thalassemia intermedia. ( 29926158 )
2018
15
No Association of Genetic Markers with Carotid Intimal Medial Thickness in I^-Thalassemia Major Patients. ( 29441217 )
2018
16
Moyamoya syndrome in hemoglobin E-beta thalassemia: A rare presentation and association. ( 29943740 )
2018
17
Coinheritance of Sicilian (I'I^)<sup>0</sup>-Thalassemia and Two Rare Hemoglobin Variants: A Complex Case of Hemoglobinopathy. ( 29651217 )
2018
18
Evaluation of an educational intervention based on health belief model on beta thalassemia carrier and final suspects couples. ( 29963570 )
2018
19
Genomewide DNA Methylation Responses in Patients with I^-Thalassemia Treated with Yisui Shengxue Granules (). ( 29761313 )
2018
20
Homozygous KLF1 mutation c.901C&amp;gt;T (p.Arg301Cys) resulting in mild thalassemia intermedia in an Indian: A next-generation sequencing diagnosis. ( 29980343 )
2018
21
Hemoglobin A<sub>2</sub>(HbA<sub>2</sub>) has a measure of unreliability in diagnosing I^-thalassemia trait (I^-TT). ( 29383950 )
2018
22
First Report of I^-Thalassemia Intermedia in a Patient Compound Heterozygous for -92 (C&amp;gt;T) and Codons 36/37 (-T) Mutations. ( 29893155 )
2018
23
Short-term administration of JAK2 inhibitors reduces splenomegaly in mouse models of I^-thalassemia intermedia and major. ( 29097498 )
2018
24
Renal iron deposition by magnetic resonance imaging in pediatric I^-thalassemia major patients: Relation to renal biomarkers, total body iron and chelation therapy. ( 29803388 )
2018
25
The prevalence of hepatitis C virus infection in thalassemia patients in Iran from 2000 to 2017: a systematic review and meta-analysis. ( 29411135 )
2018
26
The Zinc and Copper Levels in Thalassemia Major Patients, Receiving Iron Chelation Therapy. ( 29420373 )
2018
27
Mediastinal extramedullary hematopoiesis in patient with beta-thalassemia major. ( 29887175 )
2018
28
Clinical trial on the effects of thalidomide on hemoglobin synthesis in patients with moderate thalassemia intermedia. ( 29931453 )
2018
29
Risks of red blood cell alloimmunization in transfusion-dependent I^-thalassemia in Oman: a 25-year experience of a university tertiary care reference center and a literature review. ( 29399805 )
2018
30
[Analysis of genotype and hematological phenotype of 14 patients with coinheritance HKI+I+ and South-East deletion thalassemia]. ( 29343036 )
2018
31
Chronic Administration of Hydroxyurea (HU) Benefits Caucasian Patients with Sickle-Beta Thalassemia. ( 29495591 )
2018
32
Characterization of Hb Bart's Hydrops Fetalis Caused by -a88-<sup>SEA</sup> and a Large Novel I+<sup>0</sup>-Thalassemia Deletion. ( 29493331 )
2018
33
Hypogonadism in male thalassemia major patients: pathophysiology, diagnosis and treatment. ( 29451224 )
2018
34
An Observational Study of the Effect of Hemoglobinopathy, Alpha Thalassemia and Hemoglobin E on <i>P. Vivax</i> Parasitemia. ( 29531652 )
2018
35
Comparison of Deferiprone to Deferasirox and Deferoxamine to Cardiac and Hepatic T2* MRI in Thalassemia Patients: Evidence-based Case Report. ( 29950538 )
2018
36
Hypothyroidism and Hypoparathyroidism in Thalassemia Major Patients: A Study in Sistan and Baluchestan Province, Iran. ( 29868126 )
2018
37
Relationship of the Interaction Between Two Quantitative Trait Loci with I^-Globin Expression in I^-Thalassemia Intermedia Patients. ( 29745274 )
2018
38
The correlation between cardiac magnetic resonance T2* and left ventricular global longitudinal strain in people with I^-thalassemia. ( 29399871 )
2018
39
Measurement bone mineral density (BMD) of patients with beta thalassemia. ( 29904717 )
2018
40
Diagnosis of Compound Heterozygous Hb Tak/I^-Thalassemia and HbD-Punjab/I^-Thalassemia by HbA<sub>2</sub>Levels on Capillary Electrophoresis. ( 29398808 )
2018
41
Invasive prenatal diagnosis of I+-thalassemia to control Hb Bart's hydrops fetalis syndrome: 15A years of experience. ( 29948167 )
2018
42
Genetics of Iranian Alpha-Thalassemia Patients: A Comprehensive Original Study. ( 29627922 )
2018
43
Relationship between I^-Thalassemia minor and<i>Helicobacter pylori</i>infection. ( 29387320 )
2018
44
Final adult height and endocrine complications in young adults with I^-thalassemia major (TM) who received oral iron chelation (OIC) in comparison with those who did not use OIC. ( 29451226 )
2018
45
A persistent cough as atypical clinical presentation of intrathoracic extramedullary hematopoiesis (EMH) in a female with thalassemia intermedia. ( 29451228 )
2018
46
Increased levels of advanced glycation end products positively correlate with iron overload and oxidative stress markers in patients with I^-thalassemia major. ( 29318368 )
2018
47
Coheredity of a new silent mutation: c.-29G&amp;gt;T, with a severe I^-thal mutation in a patient with I^-thalassemia intermediate. ( 29405650 )
2018
48
A strategy for the clinical remission of acute lymphoblastic leukemia elicited by treatment of I^-thalassemia major: A case report. ( 29435306 )
2018
49
Polyneuropathy and myopathy in beta-thalassemia major patients. ( 29427184 )
2018
50
Fractures and Low Bone Mineral Density in Patients with Beta Thalassemia Major. ( 29398822 )
2018
Sources

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
Binding and Uptake of Ligands by Scavenger Receptors 66
Show member pathways
 11.63 HBA1 HBA2 HBB
2
HIF-1 signaling pathway 37
11.58 EPO TF TFRC
3
HIF-1-alpha transcription factor network 1
11.31 EPO TF TFRC
4
Factors involved in megakaryocyte development and platelet production 66
11.22 GATA1 HBB HBD HBE1 HBG1
5
Malaria 37
11.12 HBA1 HBA2 HBB
6
African trypanosomiasis 37
10.88 HBA1 HBA2 HBB
7
O2/CO2 exchange in erythrocytes 66
Show member pathways
 10.68 HBA1 HBA2 HBB
8
Iron metabolism in placenta 1
10.45 TF TFRC
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 extracellular space GO:0005615 9.97 EPO HBA1 HBA2 HBB HFE MIR144
2 recycling endosome GO:0055037 9.61 HFE TF TFRC
3 endocytic vesicle lumen GO:0071682 9.5 HBA1 HBA2 HBB
4 blood microparticle GO:0072562 9.5 HBA1 HBA2 HBB HBD HBE1 TF
5 HFE-transferrin receptor complex GO:1990712 9.43 HFE TF TFRC
6 basal part of cell GO:0045178 9.4 HFE TF
7 haptoglobin-hemoglobin complex GO:0031838 9.33 HBA1 HBA2 HBB
8 hemoglobin complex GO:0005833 9.23 AHSP HBA1 HBA2 HBB HBD HBE1

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 receptor-mediated endocytosis GO:0006898 9.84 HBA1 HBA2 HBB TFRC
2 cellular oxidant detoxification GO:0098869 9.72 HBA1 HBA2 HBB
3 cellular iron ion homeostasis GO:0006879 9.7 HFE TF TFRC
4 response to hydrogen peroxide GO:0042542 9.67 HBA1 HBA2 HBB
5 positive regulation of cell death GO:0010942 9.65 HBA1 HBA2 HBB
6 erythrocyte differentiation GO:0030218 9.63 AHSP EPO GATA1
7 bicarbonate transport GO:0015701 9.61 HBA1 HBA2 HBB
8 acute-phase response GO:0006953 9.58 EPO HFE UGT1A1
9 positive regulation of receptor-mediated endocytosis GO:0048260 9.57 HFE TF
10 erythrocyte maturation GO:0043249 9.56 EPO HBZ
11 blood coagulation GO:0007596 9.55 GATA1 HBB HBD HBE1 HBG1
12 transferrin transport GO:0033572 9.54 HFE TF TFRC
13 cellular response to iron ion GO:0071281 9.51 HFE TF
14 hydrogen peroxide catabolic process GO:0042744 9.43 HBA1 HBA2 HBB
15 regulation of iron ion import GO:1900390 9.32 HFE TF
16 protein heterooligomerization GO:0051291 9.26 HBA1 HBA2 HBB HBE1
17 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 iron ion binding GO:0005506 9.8 HBA1 HBA2 HBB HBD HBE1 HBG1
2 heme binding GO:0020037 9.7 HBA1 HBA2 HBB HBD HBE1 HBG1
3 peroxidase activity GO:0004601 9.54 HBA1 HBA2 HBB
4 haptoglobin binding GO:0031720 9.5 HBA1 HBA2 HBB
5 oxygen binding GO:0019825 9.5 HBA1 HBA2 HBB HBD HBE1 HBG1
6 transferrin receptor binding GO:1990459 9.43 HFE TF
7 hemoglobin binding GO:0030492 9.4 AHSP HBB
8 oxygen carrier activity GO:0005344 9.17 HBA1 HBA2 HBB HBD HBE1 HBG1
9 metal ion binding GO:0046872 10.2 ATRX BCL11A GATA1 HBA1 HBA2 HBB
Sources

Sources for Thalassemia

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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