MCID: THL005
MIFTS: 64

Thalassemia malady

Categories: Rare diseases, Genetic diseases, Blood diseases

Aliases & Classifications for Thalassemia

Aliases & Descriptions for Thalassemia:

Name: Thalassemia 38 12 50 52 41 3 42 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
Α-Thalassemia 29

Classifications:



External Ids:

Disease Ontology 12 DOID:10241
ICD10 33 D56 D56.9
ICD9CM 35 282.4 282.40
MeSH 42 D013789
NCIt 47 C35069
UMLS 69 C0039730

Summaries for Thalassemia

MedlinePlus : 41 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 fetal hemoglobin quantitative trait locus 1 and thalassemia-beta, dominant inclusion-body, and has symptoms including angina pectoris, chest pain and edema. An important gene associated with Thalassemia is ATRX (ATRX, Chromatin Remodeler), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Glucose / Energy Metabolism. The drugs Deferiprone and Deferoxamine have been mentioned in the context of this disorder. Affiliated tissues include bone, spleen and liver, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and hematopoietic system

NIH Rare Diseases : 50 thalassemia is an inherited blood disorder that reduces the production of functional hemoglobin (the protein in red blood cells that carries oxygen). this causes a shortage of red blood cells and low levels of oxygen in the bloodstream, leading to a variety of health problems. there are two main types of thalassemia, alpha thalassemia and beta thalassemia. signs and symptoms vary but may include mild to severe anemia, paleness, fatigue, yellow discoloration of skin (jaundice), and bone problems. beta thalassemia is caused by changes (mutations) in the hbb gene while alpha thalassemia is caused by mutations in the hba1 and/or hba2 genes. both are inherited in an autosomal recessive manner. treatment depends on the type and severity of the condition but may include blood transfusions and/or folic acid supplements. 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 : 71 Thalassemias are inherited blood disorders characterized by abnormal hemoglobin production. Symptoms... more...

Related Diseases for Thalassemia

Diseases in the Thalassemia family:

Delta-Thalassemia

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

(show top 50) (show all 296)
id Related Disease Score Top Affiliating Genes
1 fetal hemoglobin quantitative trait locus 1 31.4 BCL11A EPO G6PD HBA1 HBA2 HBB
2 thalassemia-beta, dominant inclusion-body 31.3 AHSP BCL11A EPO GATA1 HBA1 HBA2
3 hepatitis b 29.4 EPO G6PD HBA2 HBB
4 thalassemias, alpha- 12.4
5 thalassemia, hispanic gamma-delta-beta 12.4
6 sickle beta thalassemia 12.3
7 alpha thalassemia-x-linked intellectual disability syndrome 12.3
8 alpha-thalassemia/mental retardation syndrome 12.2
9 alpha thalassemia-intellectual disability syndrome type 1 12.1
10 thrombocytopenia with beta-thalassemia, x-linked 12.0
11 alpha-thalassemia myelodysplasia syndrome, somatic 12.0
12 thalassemia minor 12.0
13 alpha-thalassemia-abnormal morphogenesis 12.0
14 thalassemia major 12.0
15 thalassemia intermedia 12.0
16 delta-thalassemia 11.9
17 alpha-thalassemia/mental retardation syndrome, chromosome 16-related 11.8
18 hemoglobin s beta-thalassemia 11.8
19 hemoglobin e-beta-thalassemia syndrome 11.7
20 hemoglobin c-beta-thalassemia syndrome 11.7
21 hemoglobin lepore-beta-thalassemia syndrome 11.7
22 hemoglobin h disease, nondeletional 11.7
23 gata1-related thrombocytopenia with beta-thalassemia 11.7
24 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome 11.7
25 sickle delta beta thalassemia 11.6
26 hydrops fetalis, nonimmune 11.4
27 hemoglobinopathy 11.1
28 deficiency anemia 11.1
29 hemochromatosis 11.1
30 hydrops fetalis 11.1
31 malaria 11.1
32 congenital dyserythropoietic anemia 11.0
33 melioidosis 11.0
34 mental retardation-hypotonic facies syndrome, x-linked 10.8
35 fetal hemoglobin quantitative trait locus 2 10.7
36 nephropathy with pretibial epidermolysis bullosa and deafness 10.7
37 hypersensitivity pneumonitis, familial 10.4 HBA1 HBA2
38 adult-onset multiple mitochondrial dna deletion syndrome due to dguok deficiency 10.4 HBB HBD
39 ichthyosis, congenital, autosomal recessive 8 10.3 HBA1 HBA2
40 middle ear adenoma 10.3 HBB HBD
41 hydrocephalus due to congenital stenosis of aqueduct of sylvius 10.3 HBA1 HBA2
42 distal spinal muscular atrophy 4 10.3 GATA1 HBD
43 michelin tire baby syndrome 10.3 HBA1 HBA2 HBB
44 surfactant metabolism dysfunction, pulmonary, 3 10.3 HBA1 HBA2 HBB
45 alzheimer's disease 11 10.3 ATRX HBA1 HBA2
46 chronic laryngitis 10.3 HBA1 HBB
47 sickle cell anemia 10.3
48 paroxysmal nonkinesigenic dyskinesia 2 10.3 HBA1 HBA2
49 pyloric stenosis, infantile hypertrophic, 4 10.2 EPO GATA1
50 costello syndrome 10.2 HBB HBD HBG1 HBG2

Graphical network of the top 20 diseases related to Thalassemia:



Diseases related to Thalassemia

Symptoms & Phenotypes for Thalassemia

UMLS symptoms related to Thalassemia:


angina pectoris, chest pain, edema

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

26
id 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 HBA2 HBA1
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 HBA2 HBA1
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 HBA2 HBE1 HBG1 HBA1
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

MGI Mouse Phenotypes related to Thalassemia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.32 HBZ HFE KLF1 TF TFRC BCL11A

Drugs & Therapeutics for Thalassemia

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

(show top 50) (show all 268)
id 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 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 201530-41-8 5493381
8
Zoledronic acid Approved Phase 4,Phase 2,Phase 3 118072-93-8 68740
9
Zinc Approved Phase 4,Phase 2,Phase 1 7440-66-6 32051 23994
10 Zinc sulfate Approved Phase 4,Phase 2,Phase 1 7733-02-0
11
Cyclosporine Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 1 79217-60-0, 59865-13-3 5284373 6435893
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
Basiliximab Approved, Investigational Phase 4 152923-56-3, 179045-86-4
16
Methotrexate Approved Phase 4,Phase 1,Phase 2 1959-05-2, 59-05-2 126941
17
Ledipasvir Approved Phase 4 1256388-51-8 67505836
18
Sofosbuvir Approved Phase 4 1190307-88-0 45375808
19
Metformin Approved Phase 4,Early Phase 1 657-24-9 14219 4091
20
Cholecalciferol Approved, Nutraceutical Phase 4,Phase 2 67-97-0 6221 10883523 5280795
21
Ergocalciferol Approved, Nutraceutical Phase 4,Phase 2 50-14-6 5280793
22
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2 59-30-3 6037
23
leucovorin Approved, Nutraceutical Phase 4,Phase 2 58-05-9 54575, 6560146 143
24 Chelating Agents Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
25 Iron Chelating Agents Phase 4,Phase 2,Phase 3,Phase 1
26 Bone Density Conservation Agents Phase 4,Phase 2,Phase 3
27 Calcium, Dietary Phase 4,Phase 2,Phase 3,Phase 1
28 Ergocalciferols Phase 4,Phase 2
29 Micronutrients Phase 4,Phase 2,Phase 3,Phase 1
30 Trace Elements Phase 4,Phase 2,Phase 3,Phase 1
31 vitamin d Phase 4,Phase 2
32 Vitamins Phase 4,Phase 2,Phase 3
33 Heptavalent Pneumococcal Conjugate Vaccine Phase 4
34 Vaccines Phase 4
35 Anti-Infective Agents Phase 4,Phase 2,Phase 3,Phase 1
36 Antimetabolites Phase 4,Phase 2,Phase 3,Phase 1
37 Antiviral Agents Phase 4,Phase 2,Phase 3,Phase 1
38 Interferon-alpha Phase 4,Phase 2
39 interferons Phase 4,Phase 2
40 Diphosphonates Phase 4,Phase 2,Phase 3
41 Liver Extracts Phase 4,Phase 2,Phase 3,Phase 1
42 Antimetabolites, Antineoplastic Phase 4,Phase 2,Phase 3,Phase 1
43 Immunosuppressive Agents Phase 4,Phase 2,Phase 3,Phase 1
44 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
45 Astringents Phase 4,Phase 2
46 Dermatologic Agents Phase 4,Phase 2,Phase 1
47 Anti-Bacterial Agents Phase 4,Phase 2,Phase 1
48 Antibiotics, Antitubercular Phase 4,Phase 2,Phase 1
49 Antifungal Agents Phase 4,Phase 2,Phase 1
50 Antirheumatic Agents Phase 4,Phase 2,Phase 3,Phase 1

Interventional clinical trials:

(show top 50) (show all 307)
id Name Status NCT ID Phase
1 Combined Chelation Treatment With Deferiprone and Deferoxamine in Thalassemia Major Unknown status NCT00103753 Phase 4
2 The Effect of Vitamin D Supplementation on Calcium Excretion in Thalassemia: a Dose Response Study Unknown status NCT01323608 Phase 4
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
5 Evaluating the Efficacy of Deferasirox in Transfusion Dependent Chronic Anaemias (Myelodysplastic Syndrome, Beta-thalassaemia Patients) With Chronic Iron Overload Completed NCT00564941 Phase 4
6 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
7 Pneumococcal Vaccination for Splenectomised Thalassemia Major Patients in Indonesia Completed NCT03095326 Phase 4
8 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
9 Zinc Supplementation on Cellular Immunity in Thalassemia Major Completed NCT03117192 Phase 4
10 Efficacy Study of the Use of Sequential DFP-DFO Versus DFP Completed NCT00733811 Phase 4
11 Post Hematopoietic Stem Cell Transplantation Completed NCT01610297 Phase 4
12 Combo Chelation Trial Completed NCT00901199 Phase 4
13 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
14 Intensive Combined Chelation Therapy for Iron-Induced Cardiac Disease in Patients With Thalassemia Major Completed NCT00800761 Phase 4
15 Efficacy Study in Removing Excess Iron From the Heart Completed NCT00105495 Phase 4
16 Pegasys® Plus Ribavirin in Thalassemic Patients With Hepatitis C Virus Infection Completed NCT00707850 Phase 4
17 Pilot Study for Patients With Poor Response to Deferasirox Completed NCT00749515 Phase 4
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
20 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
21 Haploidentical Hematopoietic Stem Cell Transplantation for Patients With Thalassemia Major Recruiting NCT03171831 Phase 4
22 Sofosbuvir/Ledipasvir for Hepatitis C Genotype 1-6 in Patients With Transfusion-Dependent Thalassemia: An Open Label Trial Recruiting NCT03032666 Phase 4
23 Efficacy and Safety Study of Deferasirox in Patients With Non-transfusion Dependent Thalassemia Active, not recruiting NCT01709838 Phase 4
24 the Potential Immunomodulatory Effects of Spirulina on Thalassemic Children Active, not recruiting NCT02674607 Phase 4
25 Observational Study of Deferiprone (Ferriprox®) in the Treatment of Superficial Siderosis Active, not recruiting NCT01284127 Phase 4
26 The Potential Hepatoprotective Effect of Metformin in Patients With Beta Thalassemia Major Not yet recruiting NCT02984475 Phase 4
27 A Randomized Phase IV Control Trial of Single High Dose Oral Vitamin D3 in Pediatric Patients Undergoing HSCT Not yet recruiting NCT03176849 Phase 4
28 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
29 Effect of Deferasirox on Endocrine Complications in Subjects With Transfusion Dependent Thalassemia Withdrawn NCT02069886 Phase 4
30 Zoledronic Acid for the Prevention of Bone Loss Post-bone Marrow Transplantation for Thalassemia Major Patients Unknown status NCT01016093 Phase 2, Phase 3
31 An Algorithm to Start Iron Chelation in Minimally Transfused Young Beta-thalassemia Major Patients Unknown status NCT02173951 Phase 2, Phase 3
32 Therapeutic Effects of Silymarin in Patients With B-thalassemia Major Unknown status NCT00999349 Phase 2, Phase 3
33 Therapeutic Effect and Safety of Combined Hydroxyurea With Recombinant Human Erythropoietin. Unknown status NCT01624038 Phase 2, Phase 3
34 Role of Vitamin C to Augment Iron Chelation With DFP or DFX Unknown status NCT02083575 Phase 2, Phase 3
35 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
36 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
37 Amlodipine Use in the Prevention and Treatment of Iron Overload in Patients With Thalassemia Major Completed NCT01125254 Phase 2, Phase 3
38 Effect of Metoprolol on Thalassemia Cardiomyopathy Completed NCT01863173 Phase 2, Phase 3
39 Sildenafil to Improve Exercise Capacity in People With Thalassemia and Pulmonary Hypertension Completed NCT00872170 Phase 2, Phase 3
40 An Extension Study of Iron Chelation Therapy With Deferasirox (ICL670) in β-thalassemia Patients With Transfusional Iron Overload Completed NCT00171210 Phase 3
41 Amlodipine in the Prevention and Treatment of Iron Overload in Patients With Thalassemia Major Completed NCT01395199 Phase 3
42 Safety & Efficacy of ICL670 vs. Deferoxamine in Beta-thalassemia Patients With Iron Overload Due to Blood Transfusions Completed NCT00061750 Phase 3
43 A Study of Long-term Treatment With Deferasirox in Patients With Beta-thalassemia and Transfusional Hemosiderosis Completed NCT00171171 Phase 3
44 Amlodipine for Myocardial Iron in Thalassemia Completed NCT02065492 Phase 2, Phase 3
45 A Phase III Safety and Efficacy Study of L-Glutamine to Treat Sickle Cell Disease or Sickle βo-thalassemia Completed NCT01179217 Phase 3
46 Expanded Access of Deferasirox to Patients With Congenital Disorders of Red Blood Cells and Chronic Iron Overload Completed NCT00235391 Phase 3
47 A Trial of Hydroxyurea in Spinal Muscular Atrophy Completed NCT00485511 Phase 2, Phase 3
48 Efficacy and Safety of the Iron Chelator Deferiprone in Parkinson's Disease Completed NCT00943748 Phase 2, Phase 3
49 Safety and Efficacy of Deferasirox in Patients With Transfusion Dependent Iron Overload - a Non-comparative Extension Study Completed NCT01033747 Phase 2, Phase 3
50 Study With Deferiprone and/or Desferrioxamine in Iron Overloaded Patients Completed NCT00350662 Phase 3

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:

id Genetic test Affiliating Genes
1 Thalassemia 29

Anatomical Context for Thalassemia

MalaCards organs/tissues related to Thalassemia:

39
Bone, Spleen, Liver, Skin, Testes, Bone Marrow, Heart

Publications for Thalassemia

Articles related to Thalassemia:

(show top 50) (show all 2504)
id Title Authors Year
1
Prevalence of diabetes, impaired fasting glucose and impaired glucose tolerance in patients with thalassemia major in Iran: A meta-analysis study. ( 28503277 )
2017
2
Incomplete paraplegia caused by extramedullary hematopoiesis in a patient with thalassemia intermedia. ( 28503326 )
2017
3
Myocardial deformation in iron overload cardiomyopathy: speckle tracking imaging in a beta-thalassemia major population. ( 28456904 )
2017
4
Assessing posterior ocular structures in I^-thalassemia minor. ( 28054212 )
2017
5
Alpha thalassemia deletions found in suspected cases of beta thalassemia major in Pakistani population. ( 28523047 )
2017
6
Current Results and Future Research Priorities in Late Effects after Hematopoietic Stem Cell Transplantation (HCT) for Children with Sickle Cell Disease and Thalassemia: a Consensus Statement From the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects after Pediatric HCT. ( 28065838 )
2017
7
Skin Disorders in Egyptian Children with I^-Thalassemia Major. ( 28510704 )
2017
8
Complex Interaction of Hb Q-Thailand with I+(0)- and I^(0)-Thalassemia in a Chinese Family. ( 28475397 )
2017
9
Atrial fibrillation in beta thalassemia major: how to perform effective screening and early detection. ( 28084158 )
2017
10
Conjugate and 23-valent pneumococcal polysaccharide booster vaccination in asplenic patients with thalassemia major: A randomized clinical trial study. ( 28503278 )
2017
11
Breathless: beta thalassemia major. ( 28502814 )
2017
12
Cardiac complications in beta-thalassemia: From mice to men. ( 28485683 )
2017
13
Papillary Fibroelastoma as a Cause of Cardiogenic Embolic Stroke in a I^-Thalassemia Patient: Case Report and Literature Review. ( 28458927 )
2017
14
Reply to Management of hepatocellular carcinoma in thalassemia and importance of the human factor. ( 28085185 )
2017
15
Thalassemia and hemoglobinopathies in an ethnic minority group in Central Vietnam: implications to health burden and relationship between two ethnic minority groups. ( 28497434 )
2017
16
A Novel Frameshift Mutation at Codons 138/139 (HBB: c.417_418insT) on the I^-Globin Gene Leads to I^-Thalassemia. ( 28460555 )
2017
17
IVS-II-648/649 (-T) (HBB: c.316-202del) Triggers a Novel I^-Thalassemia Phenotype. ( 28475449 )
2017
18
Thalassemia review: features, dental considerations and management. ( 28461877 )
2017
19
Septicemic Melioidosis with Ruptured Splenic Abscess in a Patient with Thalassemia Intermedia. ( 28250624 )
2017
20
Gaucher disease and I^-thalassemia: A rare coinheritance. ( 28458077 )
2017
21
Variation in Transfusion Requirements Among Children With Thalassemia on Regular Transfusion Programs: Which Formula Closely Predicts the Actual Requirements? ( 28060132 )
2017
22
Evaluation of hepatitis C, hepatitis B, and HIV virus Serology pandemic in thalassemia patients of Shahid Mohammadi Hospital of Bandar Abbas, Iran. ( 28461879 )
2017
23
Effects of stem cell transplantation on bone mineral density and vitamin D status in children with thalassemia major. ( 28078791 )
2017
24
Management of hepatocellular carcinoma in thalassemia and importance of the human factor. ( 28085196 )
2017
25
Simultaneous Genotyping of I+-Thalassemia Deletional and Nondeletional Mutations by Real-Time PCR-Based Multicolor Melting Curve Analysis. ( 28506685 )
2017
26
Depleted nitric oxide and prostaglandin E2 levels are correlated with endothelial dysfunction in I^-thalassemia/HbE patients. ( 28474291 )
2017
27
Hereditary Xerocytosis due to Mutations in PIEZO1 Gene Associated with Heterozygous Pyruvate Kinase Deficiency and Beta-Thalassemia Trait in Two Unrelated Families. ( 28367341 )
2017
28
Characterization of a novel I^-globin gene cluster deletion causing ((A) I^I'I^)(0) -thalassemia by next-generation sequencing. ( 27997753 )
2017
29
Co-inheritance of I+(0) -thalassemia elevates Hb A2 level in homozygous Hb E: Diagnostic implications. ( 28497611 )
2017
30
A role for thiazide diuretic therapy in preventing bone loss, fracture, and nephrolithiasis in individuals with thalassemia and hypercalciuria? ( 28194474 )
2017
31
The Sickle I^-Thalassemia Phenotype. ( 28060121 )
2017
32
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
33
Response to: A role for thiazide diuretic therapy in preventing bone loss, fracture and nephrolithiasis in individuals with thalassemia and hypercalciuria? ( 28194475 )
2017
34
Investigation of OPG/RANK/RANKL Genes as a Genetic Marker for Cardiac abnormalities in Thalassemia Major Patients. ( 28244588 )
2017
35
Association between vitamin D levels and left ventricular function and NT-proBNP levels among thalassemia major children with iron overload. ( 27212846 )
2016
36
Molecular Characterization of I^-Thalassemia Intermedia in Southeast Iran. ( 27117567 )
2016
37
Prosthetic hip infection with Edwardsiella tarda in sickle cell beta thalassemia disease: A case report. ( 28018092 )
2016
38
Surgical outcome of spelenectomy in Thalassemia major in children. ( 27182228 )
2016
39
Molecular Characterization of I'-Thalassemia in Iran. ( 26754299 )
2016
40
Effect of the Hemochromatosis Mutations on Iron Overload among the Indian I^ Thalassemia Carriers. ( 27561698 )
2016
41
Comparison of Tissue Elastography With Magnetic Resonance Imaging T2star and Serum Ferritin Quantification in Detecting Liver Iron Overload in Patients With in Thalassemia Major. ( 27650324 )
2016
42
The ICET-A Recommendations for the Diagnosis and Management of Disturbances of Glucose Homeostasis in Thalassemia Major Patients. ( 27872738 )
2016
43
A novel missense mutation in ATRX uncovered in a Yemeni family leads to alpha-thalassemia/mental retardation syndrome without alpha-thalassemia. ( 26860117 )
2016
44
Regulatory B cells (CD19(+)CD38(hi)CD24(hi)) in alloimmunized and non-alloimmunized children with I^-thalassemia major. ( 26852663 )
2016
45
The role of the atrial electromechanical delay in predicting atrial fibrillation in beta-thalassemia major patients. ( 27878421 )
2016
46
Frequency of Hereditary Hemochromatosis (HFE) Gene Mutations in Egyptian Beta Thalassemia Patients and its Relation to Iron Overload. ( 27335591 )
2016
47
Longitudinal MRI and Ferritin Monitoring of Iron Overload in Chronically Transfused and Chelated Children With Sickle Cell Anemia and Thalassemia Major. ( 27548334 )
2016
48
Economic Burden of Thalassemia Major in Iran, 2015. ( 27840337 )
2016
49
Favorable outcomes after in utero transfusion in fetuses with alpha thalassemia major: a case series and review of the literature. ( 27862048 )
2016
50
Myelolipoma among patients with thalassemia major and rare anemia with iron loading: A not so rare entity. ( 28006846 )
2016

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:

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.98 EPO HBA1 HBA2 HBB HFE TF
2 recycling endosome GO:0055037 9.58 HFE TF TFRC
3 blood microparticle GO:0072562 9.56 HBA1 HBA2 HBB HBD HBE1 HBG2
4 endocytic vesicle lumen GO:0071682 9.5 HBA1 HBA2 HBB
5 HFE-transferrin receptor complex GO:1990712 9.43 HFE TF TFRC
6 basal part of cell GO:0045178 9.37 HFE TF
7 haptoglobin-hemoglobin complex GO:0031838 9.33 HBA1 HBA2 HBB
8 hemoglobin complex GO:0005833 9.28 AHSP HBA1 HBA2 HBB HBD HBE1

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

(show all 17)
id Name GO ID Score Top Affiliating Genes
1 receptor-mediated endocytosis GO:0006898 9.85 HBA1 HBA2 HBB TFRC
2 cellular oxidant detoxification GO:0098869 9.73 HBA1 HBA2 HBB
3 response to hydrogen peroxide GO:0042542 9.7 HBA1 HBA2 HBB
4 cellular iron ion homeostasis GO:0006879 9.69 HFE TF TFRC
5 bicarbonate transport GO:0015701 9.67 HBA1 HBA2 HBB
6 positive regulation of cell death GO:0010942 9.65 HBA1 HBA2 HBB
7 acute-phase response GO:0006953 9.63 EPO HFE UGT1A1
8 protein heterooligomerization GO:0051291 9.62 HBA1 HBA2 HBB HBE1
9 transferrin transport GO:0033572 9.61 HFE TF TFRC
10 positive regulation of receptor-mediated endocytosis GO:0048260 9.57 HFE TF
11 cellular response to iron ion GO:0071281 9.54 HFE TF
12 hydrogen peroxide catabolic process GO:0042744 9.54 HBA1 HBA2 HBB
13 erythrocyte differentiation GO:0030218 9.46 AHSP EPO GATA1 KLF1
14 erythrocyte maturation GO:0043249 9.43 EPO G6PD HBZ
15 blood coagulation GO:0007596 9.43 GATA1 HBB HBD HBE1 HBG1 HBG2
16 oxygen transport GO:0015671 9.23 HBA1 HBA2 HBB HBD HBE1 HBG1
17 transport GO:0006810 10.1 HBA1 HBA2 HBB HBD HBE1 HBG1

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

id Name GO ID Score Top Affiliating Genes
1 iron ion binding GO:0005506 9.86 HBA1 HBA2 HBB HBD HBE1 HBG1
2 heme binding GO:0020037 9.76 HBA1 HBA2 HBB HBD HBE1 HBG1
3 peroxidase activity GO:0004601 9.58 HBA1 HBA2 HBB
4 oxygen binding GO:0019825 9.56 HBA1 HBA2 HBB HBD HBE1 HBG1
5 haptoglobin binding GO:0031720 9.5 HBA1 HBA2 HBB
6 transferrin receptor binding GO:1990459 9.46 HFE TF
7 hemoglobin binding GO:0030492 9.43 AHSP HBB
8 oxygen transporter activity GO:0005344 9.23 HBA1 HBA2 HBB HBD HBE1 HBG1
9 metal ion binding GO:0046872 10.18 ATRX BCL11A GATA1 HBA1 HBA2 HBB

Sources for Thalassemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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