MCID: THL005
MIFTS: 65

Thalassemia

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

Aliases & Classifications for Thalassemia

MalaCards integrated aliases for Thalassemia:

Name: Thalassemia 37 12 72 49 36 28 51 40 3 41 14 69
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:



External Ids:

Disease Ontology 12 DOID:10241
ICD10 32 D56 D56.9
ICD9CM 34 282.4 282.40
MeSH 41 D013789
NCIt 46 C35069
KEGG 36 H00228
UMLS 69 C0039730

Summaries for Thalassemia

MedlinePlus : 40 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 edema, chest pain and angina pectoris. An important gene associated with Thalassemia is ATRX (ATRX, Chromatin Remodeler), 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 : 49 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. Last updated: 1/1/2015

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

Wikipedia : 72 Thalassemias are inherited blood disorders characterized by abnormal hemoglobin production. Symptoms... more...

Related Diseases for Thalassemia

Diseases in the Thalassemia family:

Alpha-Thalassemia Beta-Thalassemia

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

(show top 50) (show all 351)
# Related Disease Score Top Affiliating Genes
1 alpha-thalassemia/mental retardation syndrome, chromosome 16-related 34.3 ATRX HBA1 HBA2
2 hemoglobin lepore-beta-thalassemia syndrome 33.7 HBB HBD
3 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome 33.6 HBB HBG1
4 fetal hemoglobin quantitative trait locus 1 33.6 HBB HBD HBG1
5 hydrops fetalis 32.4 HBA1 HBA2
6 hydrops fetalis, nonimmune 32.3 HBA1 HBA2
7 alpha-thalassemia 31.1 ATRX EPO HBA1 HBA2 HBB HBE1
8 hemochromatosis, type 1 31.0 HBB HFE TF TFRC
9 hemoglobin h disease 31.0 AHSP EPO HBA1 HBA2 HBB HBD
10 malaria 30.6 EPO HBA1 HBA2 HBB TF TFRC
11 hemoglobin e disease 30.3 HBB HBD HBE1 HBS1L
12 hemoglobin c disease 30.1 HBB HBD HBE1
13 deficiency anemia 30.0 AHSP EPO HBA2 HBB HFE TF
14 hypochromic microcytic anemia 29.9 HBA2 HBB TF
15 neonatal anemia 29.8 EPO HBA2 HBG1
16 hemosiderosis 29.6 EPO HFE TF TFRC
17 retinitis pigmentosa and erythrocytic microcytosis 29.6 EPO GATA1
18 iron metabolism disease 29.5 EPO HFE TF TFRC
19 hemoglobinopathy 29.5 EPO HBA1 HBA2 HBB HBD HBG1
20 myelodysplastic syndrome 29.4 ATRX EPO GATA1 TFRC
21 iron deficiency anemia 29.4 EPO HFE TF TFRC
22 polycythemia 29.4 EPO HBB TFRC
23 siderosis 29.4 HBB HFE TF TFRC
24 porphyria 29.2 GATA1 HFE TF
25 microcytic anemia 29.2 EPO HBA1 HBA2 TF TFRC
26 glucosephosphate dehydrogenase deficiency 29.1 HBB UGT1A1
27 sickle cell anemia 28.9 BCL11A EPO HBA1 HBA2 HBB HBG1
28 porphyria cutanea tarda 28.8 HFE TF TFRC
29 sickle cell disease 28.7 BCL11A EPO HBA2 HBB HBD HBG1
30 beta-thalassemia 28.7 AHSP BCL11A EPO GATA1 HBA1 HBA2
31 hereditary spherocytosis 28.5 GATA1 HBB HBE1 HBG1 HFE UGT1A1
32 congenital hemolytic anemia 28.1 EPO HBA2 HBB HBD HBE1 HBG1
33 sickle beta thalassemia 12.4
34 alpha thalassemia-x-linked intellectual disability syndrome 12.4
35 alpha-thalassemia/mental retardation syndrome, x-linked 12.4
36 beta-thalassemia, dominant inclusion body type 12.3
37 alpha-thalassemia myelodysplasia syndrome 12.3
38 alpha thalassemia-intellectual disability syndrome type 1 12.2
39 thrombocytopenia with beta-thalassemia, x-linked 12.2
40 alpha-thalassemia-abnormal morphogenesis 12.1
41 hemoglobin e-beta-thalassemia syndrome 12.0
42 sickle delta beta thalassemia 12.0
43 hemoglobin c-beta-thalassemia syndrome 12.0
44 thalassemia, beta+, silent allele 11.8
45 mental retardation-hypotonic facies syndrome, x-linked, 1 11.3
46 congenital dyserythropoietic anemia 11.1
47 melioidosis 11.1
48 anemia, congenital dyserythropoietic, type iii 10.8
49 fetal hemoglobin quantitative trait locus 5 10.8
50 fetal hemoglobin quantitative trait locus 2 10.8

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

Symptoms & Phenotypes for Thalassemia

UMLS symptoms related to Thalassemia:


edema, chest pain, angina pectoris

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

25 (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 HBE1 HBG1 HBA1 HBA2
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

Drugs & Therapeutics for Thalassemia

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

(show top 50) (show all 264)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Deferiprone Approved Phase 4,Phase 2,Phase 3,Phase 1 30652-11-0 2972
2
Deferoxamine Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 70-51-9 2973
3
Iron Approved Phase 4,Phase 2,Phase 3,Phase 1 7439-89-6 23925
4
Peginterferon alfa-2a Approved, Investigational Phase 4,Phase 2 198153-51-4 5360545
5
Peginterferon alfa-2b Approved Phase 4 215647-85-1, 99210-65-8
6
Ribavirin Approved Phase 4,Phase 2 36791-04-5 37542
7
Deferasirox Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 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,Early Phase 1 21679-14-1, 75607-67-9 30751
10
Zinc Approved, Investigational Phase 4,Phase 2,Phase 1 7440-66-6 32051 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 22916-47-8 4189
13
Mycophenolate mofetil Approved, Investigational Phase 4,Phase 2,Phase 1 128794-94-5 5281078
14
Mycophenolic acid Approved Phase 4,Phase 2,Phase 1 24280-93-1 446541
15
Busulfan Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 55-98-1 2478
16
Cyclophosphamide Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 50-18-0, 6055-19-2 2907
17
Basiliximab Approved, Investigational Phase 4 179045-86-4, 152923-56-3
18
Methotrexate Approved Phase 4,Phase 1,Phase 2 1959-05-2, 59-05-2 126941
19
Tacrolimus Approved, Investigational Phase 4,Phase 1,Phase 2 104987-11-3 445643 439492
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 4091 14219
23
Cholecalciferol Approved, Nutraceutical Phase 4,Phase 2 67-97-0 10883523 5280795 6221
24
Ergocalciferol Approved, Nutraceutical Phase 4,Phase 2 50-14-6 5280793
25
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 2 1406-16-2
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 59-30-3 6037
28
leucovorin Approved, Nutraceutical Phase 4,Phase 2 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
31 Ergocalciferols Phase 4,Phase 2
32 Micronutrients Phase 4,Phase 2,Phase 3,Phase 1
33 Trace Elements Phase 4,Phase 2,Phase 3,Phase 1
34 Vitamins Phase 4,Phase 2,Phase 3
35 Chelating Agents Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
36 Iron Chelating Agents Phase 4,Phase 2,Phase 3,Phase 1
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
40 Antimetabolites Phase 4,Phase 2,Phase 3,Phase 1
41 Antiviral Agents Phase 4,Phase 2,Phase 3,Phase 1
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
46 Antimetabolites, Antineoplastic Phase 4,Phase 2,Phase 3,Phase 1
47 Immunosuppressive Agents Phase 4,Phase 2,Phase 3,Phase 1
48 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
49 Astringents Phase 4,Phase 2
50 Dermatologic Agents Phase 4,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 332)

# 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 Zinc Supplementation on Cellular Immunity in Thalassemia Major Completed NCT03117192 Phase 4 Zinc Sulfate;Sucrose Syrup
9 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
10 Efficacy Study of the Use of Sequential DFP-DFO Versus DFP Completed NCT00733811 Phase 4 Deferiprone (DFP) and Deferoxamine (DFO);Deferiprone (DFP)
11 Post Hematopoietic Stem Cell Transplantation Completed NCT01610297 Phase 4 ICL670
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 Pilot Study for Patients With Poor Response to Deferasirox Completed NCT00749515 Phase 4 Deferoxamine;Deferasirox
18 An Epidemiological Study to Assess Iron Overload Using MRI in Patients With Transfusional Siderosis (TIMES Study) Completed NCT01736540 Phase 4
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 An Extension Study of Iron Chelation Therapy With Deferasirox (ICL670) in β-thalassemia Patients With Transfusional Iron Overload Completed NCT00171210 Phase 3 Deferasirox
43 Amlodipine for Myocardial Iron in Thalassemia Completed NCT02065492 Phase 2, Phase 3 Standard Chelation;Amlodipine
44 A Study of Long-term Treatment With Deferasirox in Patients With Beta-thalassemia and Transfusional Hemosiderosis Completed NCT00171171 Phase 3 deferasirox
45 Safety & Efficacy of ICL670 vs. Deferoxamine in Beta-thalassemia Patients With Iron Overload Due to Blood Transfusions Completed NCT00061750 Phase 3 ICL670;deferoxamine
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 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.

Cochrane evidence based reviews: thalassemia

Genetic Tests for Thalassemia

Genetic tests related to Thalassemia:

# Genetic test Affiliating Genes
1 Thalassemia 28

Anatomical Context for Thalassemia

MalaCards organs/tissues related to Thalassemia:

38
Bone, Bone Marrow, Liver, Heart, Spleen, Skin, Testes

Publications for Thalassemia

Articles related to Thalassemia:

(show top 50) (show all 2626)
# Title Authors Year
1
No Association of Genetic Markers with Carotid Intimal Medial Thickness in I^-Thalassemia Major Patients. ( 29441217 )
2018
2
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
3
A strategy for the clinical remission of acute lymphoblastic leukemia elicited by treatment of I^-thalassemia major: A case report. ( 29435306 )
2018
4
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
5
Short-term administration of JAK2 inhibitors reduces splenomegaly in mouse models of I^-thalassemia intermedia and major. ( 29097498 )
2018
6
The prevalence of hepatitis C virus infection in thalassemia patients in Iran from 2000 to 2017: a systematic review and meta-analysis. ( 29411135 )
2018
7
Systematic assessment of the performance of whole-genome amplification for SNP/CNV detection and I^-thalassemia genotyping. ( 29440707 )
2018
8
Fractures and Low Bone Mineral Density in Patients with Beta Thalassemia Major. ( 29398822 )
2018
9
A KLF1 gene mutation causes I^-thalassemia minor in a Chinese family. ( 29393578 )
2018
10
The Zinc and Copper Levels in Thalassemia Major Patients, Receiving Iron Chelation Therapy. ( 29420373 )
2018
11
Statural Growth and Prevalence of Endocrinopathies in Relation to Liver Iron Content (LIC) in Adult Patients with Beta Thalassemia Major (BTM) and Sickle Cell Disease (SCD). ( 29451227 )
2018
12
Molecular Basis of I+-Thalassemia in Iran ( 29115104 )
2018
13
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
14
The correlation between cardiac magnetic resonance T2* and left ventricular global longitudinal strain in people with I^-thalassemia. ( 29399871 )
2018
15
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
16
Pathogenesis of chronic rhinosinusitis in patients affected by I^-thalassemia major and sickle cell anaemia post allogenic bone marrow transplant. ( 29447888 )
2018
17
Hemoglobin A<sub>2</sub>(HbA<sub>2</sub>) has a measure of unreliability in diagnosing I^-thalassemia trait (I^-TT). ( 29383950 )
2018
18
A prospective analysis for prevalence of complications in Thai nontransfusion-dependent Hb E/I^-thalassemia and I+-thalassemia (Hb H disease). ( 29359464 )
2018
19
Hypogonadism in male thalassemia major patients: pathophysiology, diagnosis and treatment. ( 29451224 )
2018
20
Coheredity of a new silent mutation: c.-29G>T, with a severe I^-thal mutation in a patient with I^-thalassemia intermediate. ( 29405650 )
2018
21
Quantitative assessment of metal dysregulation in I^-thalassemia patients in comparison with healthy controls by ICP-MS and chemometric analyses. ( 29388244 )
2018
22
Polyneuropathy and myopathy in beta-thalassemia major patients. ( 29427184 )
2018
23
Diagnosis of Compound Heterozygous Hb Tak/I^-Thalassemia and HbD-Punjab/I^-Thalassemia by HbA<sub>2</sub>Levels on Capillary Electrophoresis. ( 29398808 )
2018
24
Relationship between I^-Thalassemia minor and<i>Helicobacter pylori</i>infection. ( 29387320 )
2018
25
Quality of life among adolescents aged 14 to 18 years with Beta-Thalassemia Major (TM) in Qatar. ( 29451225 )
2018
26
A persistent cough as atypical clinical presentation of intrathoracic extramedullary hematopoiesis (EMH) in a female with thalassemia intermedia. ( 29451228 )
2018
27
Do Alpha Thalassemia, Fetal Hemoglobin, and the UGT1A1 Polymorphism have an Influence on Serum Bilirubin Levels and Cholelithiasis in Patients with Sickle Cell Disease? ( 28567595 )
2017
28
A Case of Non-Traumatic Avascular Necrosis of Femur in Case of Transfusion-Dependent Thalassemia. ( 29051877 )
2017
29
Genetic diagnosis of polycystic kidney disease, Alport syndrome, and thalassemia minor in a large Chinese family. ( 28827396 )
2017
30
Combination of Hb Heze [I^144(HC1)Lysa89Arg; HBB: c.434A>G] and I^(0)-Thalassemia in a Chinese Patient with I^-Thalassemia Intermedia. ( 28366026 )
2017
31
Molecular basis of I+-thalassemia. ( 29032940 )
2017
32
Correlation of Pancreatic Iron Overload Measured by T2*-Weighted Magnetic Resonance Imaging in Diabetic Patients with I^-Thalassemia Major. ( 28762844 )
2017
33
Sickle cell trait with I^-thalassemia, elliptocytosis, and thrombocytosis. ( 28882837 )
2017
34
Comparison of iron chelation effects of deferoxamine, deferasirox, and combination of deferoxamine and deferiprone on liver and cardiac T2* MRI in thalassemia maior. ( 28932366 )
2017
35
Diagnosis and treatment of neoplastic post-transplant lymphoproliferative disorder following hematopoietic stem cell transplant in I^-thalassemia: A pediatric case report. ( 29384898 )
2017
36
Cut-Off Values of Hematologic Parameters to Predict the Number of Alpha Genes Deleted in Subjects with Deletional Alpha Thalassemia. ( 29236053 )
2017
37
Efficacy and Safety of Deferasirox in Pediatric Patients of Thalassemia at a Tertiary Care Teaching Hospital. ( 28900315 )
2017
38
Comparison of Quality of Life in Patients with I^-Thalassemia Intermedia and I^-Thalassemia Major in Southern Iran. ( 28741988 )
2017
39
Thalassemia major: Transfusion and chelation or transplantation. ( 28651066 )
2017
40
Cytomegalovirus infection in a splenectomized with I^-thalassemia major: immunocompetent or immunosuppressed? ( 28680595 )
2017
41
Pregnancy in I^-thalassemia intermedia at two tertiary care centers in Lebanon and Italy: A follow-up report on fetal and maternal outcomes. ( 28247418 )
2017
42
Critical appraisal of discriminant formulas for distinguishing thalassemia from iron deficiency in patients with microcytic anemia. ( 28182576 )
2017
43
Soluble fms-Like Tyrosine Kinase 1 as a Link Between Angiogenesis and Endothelial Dysfunction in Pediatric Patients With I^-Thalassemia Intermedia. ( 28301910 )
2017
44
Serum ferritin values between 300 and 800 ng/ml in non-transfusion-dependent thalassemia: A probability curve to guide clinical decision making when MRI is unavailable. ( 28052365 )
2017
45
An age dependent response to hydroxyurea in pediatric sickle cell anemia patients with alpha thalassemia trait. ( 28783617 )
2017
46
Characterization of a novel I^-globin gene cluster deletion causing ((A) I^I'I^)(0) -thalassemia by next-generation sequencing. ( 27997753 )
2017
47
Bone quality in beta-thalassemia intermedia: relationships with bone quantity and endocrine and hematologic variables. ( 28321531 )
2017
48
Simultaneous Genotyping of I+-Thalassemia Deletional and Nondeletional Mutations by Real-Time PCR-Based Multicolor Melting Curve Analysis. ( 28506685 )
2017
49
Depleted nitric oxide and prostaglandin E2 levels are correlated with endothelial dysfunction in I^-thalassemia/HbE patients. ( 28474291 )
2017
50
Association of pancreatic MRI R2* with blood glucose and cardiac MRI R2* among thalassemia major patients in Indonesia. ( 28707395 )
2017

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 recycling endosome GO:0055037 9.58 HFE TF TFRC
2 endocytic vesicle lumen GO:0071682 9.5 HBA1 HBA2 HBB
3 blood microparticle GO:0072562 9.5 HBA1 HBA2 HBB HBD HBE1 TF
4 HFE-transferrin receptor complex GO:1990712 9.43 HFE TF TFRC
5 basal part of cell GO:0045178 9.37 HFE TF
6 haptoglobin-hemoglobin complex GO:0031838 9.33 HBA1 HBA2 HBB
7 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 9.61 AHSP EPO GATA1
7 bicarbonate transport GO:0015701 9.58 HBA1 HBA2 HBB
8 positive regulation of receptor-mediated endocytosis GO:0048260 9.57 HFE TF
9 erythrocyte maturation GO:0043249 9.56 EPO HBZ
10 blood coagulation GO:0007596 9.55 GATA1 HBB HBD HBE1 HBG1
11 acute-phase response GO:0006953 9.54 EPO HFE UGT1A1
12 cellular response to iron ion GO:0071281 9.51 HFE TF
13 transferrin transport GO:0033572 9.5 HFE TF TFRC
14 hydrogen peroxide catabolic process GO:0042744 9.43 HBA1 HBA2 HBB
15 protein heterooligomerization GO:0051291 9.26 HBA1 HBA2 HBB HBE1
16 oxygen transport GO:0015671 9.17 HBA1 HBA2 HBB HBD HBE1 HBG1
17 transport GO:0006810 10.11 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 for Thalassemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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