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B-THAL
MCID: BTT014
MIFTS: 71

Beta-Thalassemia (B-THAL)

Categories: Blood diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Immune diseases, Liver diseases, Nephrological diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Beta-Thalassemia

About this section

MalaCards integrated aliases for Beta-Thalassemia:

Name: Beta-Thalassemia 57 76 24 53 59 75 55 44 38
Beta Thalassemia 12 25 75 29 6 15 73
Mediterranean Anemia 24 53 25 59 75
Cooley's Anemia 24 53 75 3 73
Beta Thalassemia Intermedia 53 29 6 73
Thalassemia, Hispanic Gamma-Delta-Beta 57 53 13
Beta Thalassemia Major 53 29 6
Erythroblastic Anemia 53 25 75
Beta Thalassemia Minor 53 29
Thalassemia, Beta 57 40
Thalassemia Major 75 55
Thalassemia Minor 75 73
Beta-Thalassemia Intermedia 59
Microcytemia, Beta Type 25
Thalassemia, Beta Type 25
Beta-Thalassemia Major 59
Beta-Plus-Thalassemia 6
Thalassemias, Beta- 53
Beta^+^ Thalassemia 73
Cooley Anemia 59
B-Thal 75

Characteristics:

Orphanet epidemiological data:

59
beta-thalassemia
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Worldwide),1-9/1000000 (France),1-5/10000 (Europe); Age of onset: Childhood,Infancy; Age of death: adult;
beta-thalassemia intermedia
Inheritance: Autosomal recessive; Age of onset: Childhood;
beta-thalassemia major
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Immune diseases Blood diseases Nephrological diseases Endocrine diseases Liver diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare renal diseases
Rare endocrine diseases
Rare haematological diseases


Sources

Summaries for Beta-Thalassemia

About this section
NIH Rare Diseases : 53 Beta-thalassemia is a blood disorder that reduces the body's production of hemoglobin. Low levels of hemoglobin lead to a shortage of mature red blood cells and a lack of oxygen in the body. People with beta-thalassemia have anemia, which can cause paleness, weakness, fatigue, and more serious complications. There are two main forms of beta-thalassemia, classified based on the severity of symptoms:Thalassemia major (also called Cooley's anemia) - the more severe form, causing severe anemia and enlarged liver and spleen (hepatosplenomegaly). This form usually becomes apparent before 2 years of age. If not treated, it causes failure to thrive and a shortened life expectancy. Treatment involves regular transfusions and chelation therapy to reduce iron overload. Treatment allows for normal growth and development. Bone marrow transplantation or cord blood transplantation may eliminate the need for regular treatment.  Thalassemia intermedia - the less severe form, becoming apparent later and causing milder anemia that does not require regular blood transfusions. People with this form are also at risk for iron overload. Beta-thalassemia is caused by mutations in the HBB gene and is typically inherited in an autosomal recessive manner. This means that people with thalassemia major or thalassemia intermedia have a mutation in both of their copies of the HBB gene. People who have only one HBB gene mutation (carriers) typically are said to have thalassemia minor (or trait) and usually do not have symptoms, but may have some symptoms of anemia. In some cases, anemia is worsened if there is a nutritional deficiency such as with iron, folic acid or vitamin B12. Very rarely, the inheritance of beta-thalassemia may be dominant. In this case, a person has only one mutated HBB gene, but has signs and symptoms of beta-thalassemia major or beta-thalassemia intermedia. The exact treatment plan for beta-thalassemia depends on the symptoms and severity in each person.

MalaCards based summary : Beta-Thalassemia, also known as beta thalassemia, is related to hemoglobin lepore-beta-thalassemia syndrome and fetal hemoglobin quantitative trait locus 1. An important gene associated with Beta-Thalassemia is HBB (Hemoglobin Subunit Beta), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and HIF-1 signaling pathway. The drugs Basiliximab and Methotrexate have been mentioned in the context of this disorder. Affiliated tissues include bone, liver and bone marrow, and related phenotypes are genu valgum and depressivity

Disease Ontology : 12 A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin.

Genetics Home Reference : 25 Beta thalassemia is a blood disorder that reduces the production of hemoglobin. Hemoglobin is the iron-containing protein in red blood cells that carries oxygen to cells throughout the body.

OMIM : 57 Beta-thalassemia is characterized by a reduced production of hemoglobin A (HbA, alpha-2/beta-2), which results from the reduced synthesis of beta-globin chains relative to alpha-globin chains, thus causing an imbalance in globin chain production and hence abnormal erythropoiesis. The disorder is clinically heterogeneous (summary by Ottolenghi et al., 1975). Absence of beta globin causes beta-zero-thalassemia. Reduced amounts of detectable beta globin causes beta-plus-thalassemia. For clinical purposes, beta-thalassemia is divided into thalassemia major (transfusion dependent), thalassemia intermedia (of intermediate severity), and thalassemia minor (asymptomatic, carrier state). The molecular and clinical aspects of the beta-thalassemias were reviewed by Olivieri (1999). The remarkable phenotypic diversity of the beta-thalassemias reflects the heterogeneity of mutations at the HBB locus, the action of many secondary and tertiary modifiers, and a wide range of environmental factors (Weatherall, 2001). (613985)

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.

UniProtKB/Swiss-Prot : 75 Beta-thalassemia: A form of thalassemia. Thalassemias are common monogenic diseases occurring mostly in Mediterranean and Southeast Asian populations. The hallmark of beta-thalassemia is an imbalance in globin-chain production in the adult HbA molecule. Absence of beta chain causes beta(0)-thalassemia, while reduced amounts of detectable beta globin causes beta(+)-thalassemia. In the severe forms of beta-thalassemia, the excess alpha globin chains accumulate in the developing erythroid precursors in the marrow. Their deposition leads to a vast increase in erythroid apoptosis that in turn causes ineffective erythropoiesis and severe microcytic hypochromic anemia. Clinically, beta-thalassemia is divided into thalassemia major which is transfusion dependent, thalassemia intermedia (of intermediate severity), and thalassemia minor that is asymptomatic.

Wikipedia : 76 Beta thalassemias (β thalassemias) are a group of inherited blood disorders. They are forms of... more...

GeneReviews: NBK1426
Sources

Related Diseases for Beta-Thalassemia

About this section

Diseases in the Thalassemia family:

Alpha-Thalassemia Beta-Thalassemia

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

(show top 50) (show all 283)
# Related Disease Score Top Affiliating Genes
1 hemoglobin lepore-beta-thalassemia syndrome 34.1 HBB HBD
2 fetal hemoglobin quantitative trait locus 1 34.0 HBB HBD HBG1 HBG2
3 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome 33.7 HBB HBG1 HBG2 KLF1
4 thalassemia 31.5 AHSP BCL11A EPO GATA1 HBA2 HBB
5 hemoglobin e disease 31.2 HBB HBD HBE1 HBS1L
6 hemosiderosis 30.9 EPO HFE TF TFRC
7 iron metabolism disease 30.6 EPO HFE TF TFR2 TFRC
8 iron deficiency anemia 30.5 EPO HFE TF TFR2 TFRC
9 glucosephosphate dehydrogenase deficiency 30.5 HBB HBG2 UGT1A1
10 sickle cell anemia 30.4 BCL11A EPO HBA2 HBB HBG1 HBG2
11 hemolytic anemia 30.4 EPO HBA2 HBB HBG2
12 sickle cell disease 30.4 BCL11A EPO HBA2 HBB HBD HBG1
13 porphyria 30.2 GATA1 HFE TF
14 siderosis 30.2 HBB HFE TF TFRC
15 sea-blue histiocyte disease 30.2 HBB HBE1
16 alpha-thalassemia 30.2 EPO HBA2 HBB HBE1 HBG1 HBG2
17 porphyria cutanea tarda 30.2 HFE TF TFRC
18 microcytic anemia 30.1 EPO HBA2 TF TFRC
19 hemoglobin c disease 30.1 HBB HBD HBE1
20 hemoglobin zurich 30.0 HBA2 HBB
21 neonatal anemia 30.0 EPO HBA2 HBG1 KLF1
22 deficiency anemia 30.0 AHSP EPO GATA1 HBA2 HBB HBG2
23 hemochromatosis, type 1 30.0 HFE TF TFR2 TFRC
24 hemoglobinopathy 29.7 EPO HBA2 HBB HBD HBE1 HBG1
25 myelodysplastic syndrome 29.6 EPO GATA1 HFE TF TFRC
26 malaria 29.6 EPO HBA2 HBB TF TFRC
27 hemoglobin h disease 29.5 AHSP EPO HBA2 HBB HBD HBE1
28 hereditary spherocytosis 29.5 GATA1 HBB HBE1 HBG1 HFE KLF1
29 sickle beta thalassemia 12.9
30 beta-thalassemia, dominant inclusion body type 12.8
31 thrombocytopenia with beta-thalassemia, x-linked 12.7
32 hemoglobin e-beta-thalassemia syndrome 12.6
33 sickle delta beta thalassemia 12.4
34 hemoglobin c-beta-thalassemia syndrome 12.4
35 thalassemia, beta+, silent allele 12.2
36 hydrops fetalis, nonimmune 11.3
37 fetal hemoglobin quantitative trait locus 5 11.3
38 fetal hemoglobin quantitative trait locus 2 11.3
39 nephropathy with pretibial epidermolysis bullosa and deafness 11.3
40 fetal hemoglobin quantitative trait locus 6 10.5
41 hepatitis 10.4
42 osteoporosis 10.3
43 hypoparathyroidism 10.3
44 hepatitis c 10.3
45 hemoglobin d disease 10.3 HBB HBD
46 methemoglobinemia, beta-globin type 10.3 HBA2 HBB
47 malignant secondary hypertension 10.3 HBB HBD
48 glutathione peroxidase deficiency 10.3 HBA2 HBB
49 pseudoxanthoma elasticum 10.3
50 thrombosis 10.3

Graphical network of the top 20 diseases related to Beta-Thalassemia:



Diseases related to Beta-Thalassemia
Sources

Symptoms & Phenotypes for Beta-Thalassemia

About this section

Clinical features from OMIM:

613985

Human phenotypes related to Beta-Thalassemia:

59 32 (show top 50) (show all 62)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 genu valgum 59 32 frequent (33%) Frequent (79-30%) HP:0002857
2 depressivity 59 32 frequent (33%) Frequent (79-30%) HP:0000716
3 diabetes mellitus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000819
4 hypothyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000821
5 muscle weakness 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001324
6 respiratory insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0002093
7 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
8 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
9 splenomegaly 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001744
10 hepatomegaly 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%),Frequent (79-30%) HP:0002240
11 skeletal dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002652
12 depressed nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0005280
13 abnormality of the dentition 59 32 frequent (33%) Frequent (79-30%) HP:0000164
14 malabsorption 59 32 frequent (33%) Frequent (79-30%) HP:0002024
15 visual impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000505
16 delayed puberty 59 32 frequent (33%) Frequent (79-30%) HP:0000823
17 fever 59 32 frequent (33%) Frequent (79-30%) HP:0001945
18 osteoporosis 59 32 frequent (33%) Frequent (79-30%) HP:0000939
19 arthralgia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002829
20 hypertrophic cardiomyopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001639
21 dyspnea 59 32 frequent (33%) Frequent (79-30%) HP:0002094
22 arrhythmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0011675
23 hepatitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0012115
24 pallor 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000980
25 pulmonary arterial hypertension 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0002092
26 irritability 59 32 frequent (33%) Frequent (79-30%) HP:0000737
27 feeding difficulties 59 32 frequent (33%) Frequent (79-30%) HP:0011968
28 abnormality of the thorax 59 32 occasional (7.5%) Occasional (29-5%) HP:0000765
29 reduced bone mineral density 59 32 frequent (33%) Frequent (79-30%) HP:0004349
30 anxiety 59 32 frequent (33%) Frequent (79-30%) HP:0000739
31 cirrhosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001394
32 cardiomyopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001638
33 hypogonadotrophic hypogonadism 59 32 frequent (33%) Frequent (79-30%) HP:0000044
34 abnormality of the skeletal system 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000924
35 abnormality of the skull 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000929
36 cholelithiasis 59 32 frequent (33%) Occasional (29-5%),Frequent (79-30%),Frequent (79-30%) HP:0001081
37 thrombocytopenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001873
38 microcytic anemia 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0001935
39 abnormality of temperature regulation 59 32 frequent (33%) Frequent (79-30%) HP:0004370
40 venous thrombosis 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%),Occasional (29-5%) HP:0004936
41 abnormality of iron homeostasis 59 32 frequent (33%) Frequent (79-30%) HP:0011031
42 abnormal hemoglobin 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0011902
43 skin ulcer 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%),Occasional (29-5%) HP:0200042
44 jaundice 59 32 frequent (33%) Frequent (79-30%) HP:0000952
45 hypersplenism 59 32 hallmark (90%) Very frequent (99-80%) HP:0001971
46 nyctalopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000662
47 hypoparathyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000829
48 paresthesia 59 32 frequent (33%) Frequent (79-30%) HP:0003401
49 upslanted palpebral fissure 59 32 frequent (33%) Frequent (79-30%) HP:0000582
50 neutropenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001875
Sources

Drugs & Therapeutics for Beta-Thalassemia

About this section

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

(show top 50) (show all 190)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Basiliximab Approved, Investigational Phase 4 152923-56-3, 179045-86-4
2
Methotrexate Approved Phase 4 59-05-2, 1959-05-2 126941
3
Mycophenolic acid Approved Phase 4,Phase 1,Phase 2 24280-93-1 446541
4
leucovorin Approved Phase 4 58-05-9 6006 143
5
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 1,Phase 2 22916-47-8 4189
6
Iron Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 7439-89-6 23925
7
Deferoxamine Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 70-51-9 2973
8
Deferiprone Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 30652-11-0 2972
9
Peginterferon alfa-2a Approved, Investigational Phase 4 198153-51-4 5360545
10
Peginterferon alfa-2b Approved Phase 4 99210-65-8, 215647-85-1
11
Ribavirin Approved Phase 4 36791-04-5 37542
12
Deferasirox Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 201530-41-8 5493381
13
Zinc Approved, Investigational Phase 4,Phase 1,Phase 2,Not Applicable 7440-66-6
14
Zinc sulfate Approved, Investigational Phase 4 7733-02-0
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 1,Not Applicable 6055-19-2, 50-18-0 2907
17
Fludarabine Approved Phase 4,Phase 1,Phase 2,Early Phase 1,Not Applicable 75607-67-9, 21679-14-1 30751
18
Tacrolimus Approved, Investigational Phase 4,Phase 1,Phase 2 104987-11-3 445643 439492
19
Metformin Approved Phase 4 657-24-9 14219 4091
20
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
21
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
22
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 5280795 6221
23
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
24
Citric Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 1 77-92-9 311
25 Folate Phase 4
26 Antitubercular Agents Phase 4,Phase 1,Phase 2
27 Immunoglobulins Phase 4,Phase 2,Not Applicable
28 Immunologic Factors Phase 4,Phase 1,Phase 2,Not Applicable
29 Vitamin B9 Phase 4
30 Calcineurin Inhibitors Phase 4,Phase 1,Phase 2
31 Vitamin B Complex Phase 4
32 Immunosuppressive Agents Phase 4,Phase 1,Phase 2,Not Applicable
33 Antibodies, Monoclonal Phase 4
34 Cyclosporins Phase 4,Phase 1,Phase 2
35 Antimetabolites, Antineoplastic Phase 4,Phase 2,Phase 1,Not Applicable
36 Anti-Infective Agents Phase 4,Phase 1,Phase 2,Not Applicable
37 Antirheumatic Agents Phase 4,Phase 1,Phase 2,Not Applicable
38 Antifungal Agents Phase 4,Phase 1,Phase 2
39 Antimetabolites Phase 4,Phase 2,Phase 1,Not Applicable
40 Folic Acid Antagonists Phase 4
41 Anti-Bacterial Agents Phase 4,Phase 1,Phase 2
42 Antibiotics, Antitubercular Phase 4,Phase 1,Phase 2
43 Dermatologic Agents Phase 4,Phase 1,Phase 2
44 Antibodies Phase 4,Phase 2,Not Applicable
45 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
46 Iron Chelating Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
47 Chelating Agents Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1,Not Applicable
48 Heptavalent Pneumococcal Conjugate Vaccine Phase 4
49 Vaccines Phase 4,Early Phase 1
50 Calcium, Dietary Phase 4,Phase 2,Phase 3,Not Applicable

Interventional clinical trials:

(show top 50) (show all 205)
# Name Status NCT ID Phase Drugs
1 Efficacy of Basiliximab in the Prevention of Acute Graft-versus-host Disease in Unrelated Allogeneic Hematopoietic Stem Cell Transplantation Therapy for Thalassemia Major Unknown status NCT02342145 Phase 4 Basiliximab,;cyclosporine A;Methotrexate;Mycophenolate mofetil
2 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 The Effect of Vitamin D Supplementation on Calcium Excretion in Thalassemia: a Dose Response Study Unknown status NCT01323608 Phase 4 Vitamin D3;Placebo
5 Interferon and Ribavirin Treatment in Patients With Hemoglobinopathies Unknown status NCT00887081 Phase 4 PEG-IFN alpha2a or PEG-IFN alpha2b and Ribavirin
6 Evaluating the Efficacy of Deferasirox in Transfusion Dependent Chronic Anaemias (Myelodysplastic Syndrome, Beta-thalassaemia Patients) With Chronic Iron Overload Completed NCT00564941 Phase 4 deferasirox
7 Post Hematopoietic Stem Cell Transplantation Completed NCT01610297 Phase 4 ICL670
8 Efficacy Study of the Use of Sequential DFP-DFO Versus DFP Completed NCT00733811 Phase 4 Deferiprone (DFP) and Deferoxamine (DFO);Deferiprone (DFP)
9 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
10 Pneumococcal Vaccination for Splenectomised Thalassemia Major Patients in Indonesia Completed NCT03095326 Phase 4 Sucrose
11 Intensive Combined Chelation Therapy for Iron-Induced Cardiac Disease in Patients With Thalassemia Major Completed NCT00800761 Phase 4 Deferoxamine and Deferiprone;Deferoxamine
12 Zinc Supplementation on Cellular Immunity in Thalassemia Major Completed NCT03117192 Phase 4 Zinc Sulfate;Sucrose Syrup
13 Efficacy Study in Removing Excess Iron From the Heart Completed NCT00105495 Phase 4 Ferriprox (deferiprone);Desferal (deferoxamine)
14 Pilot Study for Patients With Poor Response to Deferasirox Completed NCT00749515 Phase 4 Deferoxamine;Deferasirox
15 An Epidemiological Study to Assess Iron Overload Using MRI in Patients With Transfusional Siderosis (TIMES Study) Completed NCT01736540 Phase 4
16 The Potential Hepatoprotective Effect of Metformin in Patients With Beta Thalassemia Major Recruiting NCT02984475 Phase 4 Metformin
17 Haploidentical Hematopoietic Stem Cell Transplantation for Patients With Thalassemia Major Recruiting NCT03171831 Phase 4 Busulfan;Cyclophosphamide;Fludarabine;Mycophenolate mofetil;Tacrolimus;Methotrexate;Thymoglobulin;Basiliximab
18 L-arginine Versus Sildenafil in Children With Beta Thalassemia Associated With Pulmonary Hypertension Recruiting NCT03402191 Phase 4 L-arginine;Sildenafil
19 Safety and Efficacy of Early Treatment With Deferiprone in Infants and Young Children Recruiting NCT03591575 Phase 4 Deferiprone oral solution;Placebo
20 Study on the Mechanism of Colla Corri Asini in the Treatment of Thalassemia Patients With Pregnancy Anemia Recruiting NCT03392298 Phase 4 Colla corii asini
21 Colla Corii Asini Treating Anemia in Pregnant Women With Thalassemia(Presenting the Syndrome of Blood Deficiency) Recruiting NCT03374111 Phase 4 Colla corii asini;a Simulate Agent of Colla corii asini granule
22 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
23 An Algorithm to Start Iron Chelation in Minimally Transfused Young Beta-thalassemia Major Patients Unknown status NCT02173951 Phase 2, Phase 3 Deferiprone
24 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
25 Therapeutic Effects of Silymarin in Patients With B-thalassemia Major Unknown status NCT00999349 Phase 2, Phase 3 Silymarin (LEGALON);Placebo
26 Therapeutic Effect and Safety of Combined Hydroxyurea With Recombinant Human Erythropoietin. Unknown status NCT01624038 Phase 2, Phase 3 Hydroxyurea ,Epiao;hydroxyurea, blood transfusion
27 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
28 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
29 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
30 An Extension Study of Iron Chelation Therapy With Deferasirox (ICL670) in β-thalassemia Patients With Transfusional Iron Overload Completed NCT00171210 Phase 3 Deferasirox
31 A Study of Long-term Treatment With Deferasirox in Patients With Beta-thalassemia and Transfusional Hemosiderosis Completed NCT00171171 Phase 3 deferasirox
32 Amlodipine Use in the Prevention and Treatment of Iron Overload in Patients With Thalassemia Major Completed NCT01125254 Phase 2, Phase 3 Amlodipine
33 Safety & Efficacy of ICL670 vs. Deferoxamine in Beta-thalassemia Patients With Iron Overload Due to Blood Transfusions Completed NCT00061750 Phase 3 ICL670;deferoxamine
34 Study to Evaluate Efficacy and Safety of S303 Treated Red Blood Cells (RBCs)in Subjects With Thalassemia Major Requiring Chronic RBC Transfusion Completed NCT01740531 Phase 3
35 Amlodipine in the Prevention and Treatment of Iron Overload in Patients With Thalassemia Major Completed NCT01395199 Phase 3 Amlodipine
36 Effect of Metoprolol on Thalassemia Cardiomyopathy Completed NCT01863173 Phase 2, Phase 3 metoprolol;placebo
37 Efficacy/Safety Study of Deferiprone Compared to Deferasirox in Paediatric Patients Completed NCT01825512 Phase 3 Deferiprone;Deferasirox
38 Efficacy and Safety of the Iron Chelator Deferiprone in Parkinson's Disease Completed NCT00943748 Phase 2, Phase 3 deferiprone;placebo
39 Safety and Efficacy of Deferasirox in Patients With Transfusion Dependent Iron Overload - a Non-comparative Extension Study Completed NCT01033747 Phase 2, Phase 3 Deferasirox;Deferasirox
40 Long-term Safety and Efficacy Follow-up of Subjects Treated With GSK2696277 for Transfusion Dependent Beta-thalassemia in San Raffaele Telethon Institute of Gene Therapy-Beta Thalassemia (TIGET-BTHAL) Study Recruiting NCT03275051 Phase 2, Phase 3
41 A Study Evaluating the Efficacy and Safety of the LentiGlobin® BB305 Drug Product in Subjects With Transfusion-Dependent β-Thalassemia, Who Have a β0/β0 Genotype Recruiting NCT03207009 Phase 3
42 A Study Evaluating the Efficacy and Safety of the LentiGlobin® BB305 Drug Product in Subjects With Transfusion-Dependent β-Thalassemia, Who do Not Have a β0/β0 Genotype Recruiting NCT02906202 Phase 3
43 Denosumab Versus Zoledronic Acid in Thalassemia-Induced Osteoporosis Recruiting NCT03040765 Phase 3 Denosumab 60 MG/ML Prefilled Syringe;Zoledronic Acid 5Mg/Bag 100Ml Inj
44 An Efficacy and Safety Study of Luspatercept (ACE-536) Versus Placebo in Adults Who Require Regular Red Blood Cell Transfusions Due to Beta (β) Thalassemia Active, not recruiting NCT02604433 Phase 3 Luspatercept
45 the Efficacy and Safety of Sugammadex in Children 0-2 Years Old Not yet recruiting NCT03728543 Phase 2, Phase 3 Sugammadex
46 Sperm DNA Damage in β-thalassemia Major: Is There a Role for Antioxidants? Unknown status NCT03014882 Phase 1, Phase 2 L-Carnitine and N-acetyl cysteine
47 Iron Balance Study of Deferasirox, Deferoxamine and the Combination of Both Unknown status NCT00738413 Phase 1, Phase 2 Deferoxamine;Deferasirox
48 Trial of HQK-1001 in Beta Thalassemia Intermedia in Lebanon Completed NCT01642758 Phase 2 Sodium 2,2 dimethylbutyrate
49 A Study Evaluating the Safety and Efficacy of the LentiGlobin® BB305 Drug Product in Beta-Thalassemia Major Subjects Completed NCT01745120 Phase 1, Phase 2
50 Study of SDMB (2,2 Dimethylbutyrate, Sodium Salt) in Beta Thalassemia Intermedia in Thailand Completed NCT01609595 Phase 2 sodium 2,2 dimethylbutyrate

Search NIH Clinical Center for Beta-Thalassemia

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: beta-thalassemia

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Genetic Tests for Beta-Thalassemia

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Genetic tests related to Beta-Thalassemia:

# Genetic test Affiliating Genes
1 Beta Thalassemia 29 HBB HBB-LCR
2 Beta Thalassemia Intermedia 29
3 Beta Thalassemia Major 29
4 Beta Thalassemia Minor 29
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Anatomical Context for Beta-Thalassemia

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MalaCards organs/tissues related to Beta-Thalassemia:

41
Bone, Liver, Bone Marrow, Spleen, Testes, Heart, Thyroid
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Publications for Beta-Thalassemia

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Articles related to Beta-Thalassemia:

(show top 50) (show all 1689)
# Title Authors Year
1
Detection of HCV genome in peripheral blood mononuclear cells of Iranian seropositive and HCV RNA negative in plasma of patients with beta-thalassemia major: Occult HCV infection. ( 30091793 )
2019
2
Vascular endothelial growth factor and pulmonary hypertension in children with beta thalassemia major. ( 29859904 )
2018
3
Efficacy and safety of resveratrol, an oral hemoglobin F-augmenting agent, in patients with beta-thalassemia intermedia. ( 29926158 )
2018
4
Moyamoya syndrome in hemoglobin E-beta thalassemia: A rare presentation and association. ( 29943740 )
2018
5
Evaluation of an educational intervention based on health belief model on beta thalassemia carrier and final suspects couples. ( 29963570 )
2018
6
Mediastinal extramedullary hematopoiesis in patient with beta-thalassemia major. ( 29887175 )
2018
7
Chronic Administration of Hydroxyurea (HU) Benefits Caucasian Patients with Sickle-Beta Thalassemia. ( 29495591 )
2018
8
Measurement bone mineral density (BMD) of patients with beta thalassemia. ( 29904717 )
2018
9
Polyneuropathy and myopathy in beta-thalassemia major patients. ( 29427184 )
2018
10
Fractures and Low Bone Mineral Density in Patients with Beta Thalassemia Major. ( 29398822 )
2018
11
The Correlation of Cardiac and Hepatic Hemosiderosis as Measured by T2*MRI Technique with Ferritin Levels and Hemochromatosis Gene Mutations in Iranian Patients with Beta Thalassemia Major. ( 29467999 )
2018
12
Serum Hepcidin Levels in Children with Beta Thalassemia Major. ( 29941702 )
2018
13
Quality of life among adolescents aged 14 to 18 years with Beta-Thalassemia Major (TM) in Qatar. ( 29451225 )
2018
14
Emphysematous osteomyelitis caused by <i>Salmonella typhi</i> in beta thalassemia major. ( 29882519 )
2018
15
Cutaneous manifestations in Egyptian children with beta-thalassemia major: Relationship with serum ferritin, thyroid profile, and treatment modalities. ( 29943859 )
2018
16
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
17
A prospective analysis for prevalence of complications in Thai nontransfusion-dependent Hb E/β-thalassemia and α-thalassemia (Hb H disease). ( 29359464 )
2018
18
Effect of Assorted Globin Haplotypes and α-Thalassemia on the Clinical Heterogeneity of Hb S-β-Thalassemia. ( 30486691 )
2018
19
Atrial fibrillation in β-thalassemia patients with a focus on the role of iron-overload and oxidative stress: A review. ( 30536543 )
2018
20
Atrial fibrillation in β-thalassemia Major Patients: Diagnosis, Management and Therapeutic Options. ( 30270686 )
2018
21
Reference intervals for HbA2 and HbF and cut-off value of HbA2 for β-thalassemia carrier screening in a Guizhou population of reproductive age. ( 30503531 )
2018
22
Global analysis of erythroid cells redox status reveals the involvement of Prdx1 and Prdx2 in the severity of beta thalassemia. ( 30521599 )
2018
23
Gene therapy for beta thalassemia. ( 30523322 )
2018
24
Cardioprotective Effects of Spirulina Therapy in Children With Beta-Thalassemia Major. ( 30531602 )
2018
25
Association between genotype and disease complications in Egyptian patients with beta thalassemia: A Cross-sectional study. ( 30531823 )
2018
26
Hematological and biochemical evaluation of β-thalassemia major (βTM) patients in Gaza Strip: A cross-sectional study. ( 30534039 )
2018
27
Relationship between uric acid levels and cardiometabolic findings in a large cohort of β-thalassemia major patients. ( 29569468 )
2018
28
Low-dose Synachten test with measurement of salivary cortisol in adult patients with β-thalassemia major. ( 29572711 )
2018
29
Late effects after hematopoietic stem cell transplantation for β-thalassemia major: the French national experience. ( 29599204 )
2018
30
A comparison of intrauterine hemopoietic cell transplantation and lentiviral gene transfer for the correction of severe β-thalassemia in a HbbTh3/+ murine model. ( 29605545 )
2018
31
Morphological and dimensional characteristics of dental arch in children with beta thalassemia major. ( 29607832 )
2018
32
A comprehensive review of the prevalence of beta globin gene variations and the co-inheritance of related gene variants in Saudi Arabians with beta-thalassemia. ( 29619482 )
2018
33
Contrasting co-inheritance of alpha and beta mutations in delta beta thalassemia and hereditary persistence of fetal hemoglobin: a study from India. ( 29621931 )
2018
34
Depression, Anxiety, and Perceived Social Support among Adults with Beta-Thalassemia Major: Cross-Sectional Study. ( 29629042 )
2018
35
Management of Children With β-Thalassemia Intermedia: Overview, Recent Advances, and Treatment Challenges. ( 29629992 )
2018
36
Blood rheology in children with the S/β+-thalassemia syndrome. ( 29630544 )
2018
37
Left Ventricular Diastolic Dysfunction in β-Thalassemia Major with Heart Failure. ( 29633668 )
2018
38
A pilot study on sperm DNA damage in β-thalassemia major: is there a role for antioxidants? ( 29633742 )
2018
39
The effect of iron chelation therapy on overall survival in sickle cell disease and β-thalassemia: A systematic review. ( 29635754 )
2018
40
Correction to: Recent Progress on Genetic Diagnosis and Therapy for β-Thalassemia in China and Around the World, by Zhang J, Yan J, and Zeng F. Hum Gene Ther 2018;29(2):197-203. DOI: 10.1089/hum.2017.228. ( 29641298 )
2018
41
Phylogenetic analysis of HTLV-1 in Iranian blood donors, HIV-1 positive patients and patients with beta thalassemia. ( 29663494 )
2018
42
Glucose Homeostasis Markers in Beta-Thalassemia. ( 29668553 )
2018
43
Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia. ( 29669226 )
2018
44
Gene Therapy as a Curative Option for β-Thalassemia. ( 29669229 )
2018
45
Renal safety under long-course deferasirox therapy in iron overloaded transfusion-dependent β-thalassemia and other anemias. ( 29675847 )
2018
46
Distribution of Hepatitis C Virus Genotypes in Patients with Major β-Thalassemia in Mashhad, Northeast Iran. ( 29682246 )
2018
47
Genotype-phenotype correlation among beta-thalassemia and beta-thalassemia/HbE disease in Thai children: predictable clinical spectrum using genotypic analysis. ( 29695942 )
2018
48
Successful pregnancy in a woman previously suffering from β-thalassemia following transplantation of ovarian tissue cryopreserved before puberty. ( 29696941 )
2018
49
Short-hairpin RNA against aberrant HBBIVSI-110(G>A) mRNA restores β-globin levels in a novel cell model and acts as mono- and combination therapy for β-thalassemia in primary hematopoietic stem cells. ( 29700171 )
2018
50
Better Renal Resistive Index Profile in Subjects with Beta Thalassemia Minor. ( 29723861 )
2018
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Variations for Beta-Thalassemia

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UniProtKB/Swiss-Prot genetic disease variations for Beta-Thalassemia:

75
# Symbol AA change Variation ID SNP ID
1 HBB p.Glu27Lys VAR_002907 rs33950507
2 HBB p.Ala116Asp VAR_003037 rs35485099
3 HBB p.Val127Gly VAR_003056 rs33925391
4 HBB p.Leu115Pro VAR_010145 rs36015961

ClinVar genetic disease variations for Beta-Thalassemia:

6 (show top 50) (show all 289)
# Gene Variation Type Significance SNP ID Assembly Location
1 HBB NM_000518.4(HBB): c.19G> A (p.Glu7Lys) single nucleotide variant Pathogenic rs33930165 GRCh37 Chromosome 11, 5248233: 5248233
2 HBB NM_000518.4(HBB): c.19G> A (p.Glu7Lys) single nucleotide variant Pathogenic rs33930165 GRCh38 Chromosome 11, 5227003: 5227003
3 HBB NM_000518.4(HBB): c.208G> A (p.Gly70Ser) single nucleotide variant Conflicting interpretations of pathogenicity, other rs33947415 GRCh37 Chromosome 11, 5247914: 5247914
4 HBB NM_000518.4(HBB): c.208G> A (p.Gly70Ser) single nucleotide variant Conflicting interpretations of pathogenicity, other rs33947415 GRCh38 Chromosome 11, 5226684: 5226684
5 HBB NM_000518.4(HBB): c.364G> C (p.Glu122Gln) single nucleotide variant Conflicting interpretations of pathogenicity, other rs33946267 GRCh37 Chromosome 11, 5246908: 5246908
6 HBB NM_000518.4(HBB): c.364G> C (p.Glu122Gln) single nucleotide variant Conflicting interpretations of pathogenicity, other rs33946267 GRCh38 Chromosome 11, 5225678: 5225678
7 HBB HBB, 2-BP INS, 25TA insertion Pathogenic
8 HBB HBB, 1-BP DEL, C deletion Pathogenic
9 HBB NM_000518.4(HBB): c.79G> A (p.Glu27Lys) single nucleotide variant Pathogenic rs33950507 GRCh37 Chromosome 11, 5248173: 5248173
10 HBB NM_000518.4(HBB): c.79G> A (p.Glu27Lys) single nucleotide variant Pathogenic rs33950507 GRCh38 Chromosome 11, 5226943: 5226943
11 HBB NM_000518.4(HBB): c.68A> C (p.Glu23Ala) single nucleotide variant Conflicting interpretations of pathogenicity, other rs33936254 GRCh37 Chromosome 11, 5248184: 5248184
12 HBB NM_000518.4(HBB): c.68A> C (p.Glu23Ala) single nucleotide variant Conflicting interpretations of pathogenicity, other rs33936254 GRCh38 Chromosome 11, 5226954: 5226954
13 HBB NM_000518.4(HBB): c.410G> A (p.Gly137Asp) single nucleotide variant Likely benign rs33949486 GRCh37 Chromosome 11, 5246862: 5246862
14 HBB NM_000518.4(HBB): c.410G> A (p.Gly137Asp) single nucleotide variant Likely benign rs33949486 GRCh38 Chromosome 11, 5225632: 5225632
15 HBB NM_000518.4(HBB): c.92G> C (p.Arg31Thr) single nucleotide variant Pathogenic rs33960103 GRCh37 Chromosome 11, 5248160: 5248160
16 HBB NM_000518.4(HBB): c.92G> C (p.Arg31Thr) single nucleotide variant Pathogenic rs33960103 GRCh38 Chromosome 11, 5226930: 5226930
17 HBB NM_000518.4(HBB): c.82G> T (p.Ala28Ser) single nucleotide variant Likely pathogenic rs35424040 GRCh37 Chromosome 11, 5248170: 5248170
18 HBB NM_000518.4(HBB): c.82G> T (p.Ala28Ser) single nucleotide variant Likely pathogenic rs35424040 GRCh38 Chromosome 11, 5226940: 5226940
19 HBB NM_000518.4(HBB): c.59A> G (p.Asn20Ser) single nucleotide variant Pathogenic rs33972047 GRCh37 Chromosome 11, 5248193: 5248193
20 HBB NM_000518.4(HBB): c.59A> G (p.Asn20Ser) single nucleotide variant Pathogenic rs33972047 GRCh38 Chromosome 11, 5226963: 5226963
21 HBB NM_000518.4(HBB): c.364G> A (p.Glu122Lys) single nucleotide variant Pathogenic rs33946267 GRCh37 Chromosome 11, 5246908: 5246908
22 HBB NM_000518.4(HBB): c.364G> A (p.Glu122Lys) single nucleotide variant Pathogenic rs33946267 GRCh38 Chromosome 11, 5225678: 5225678
23 HBB NM_000518.4(HBB): c.157G> A (p.Asp53Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs33961886 GRCh37 Chromosome 11, 5247965: 5247965
24 HBB NM_000518.4(HBB): c.157G> A (p.Asp53Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs33961886 GRCh38 Chromosome 11, 5226735: 5226735
25 HBB NM_000518.4(HBB): c.328G> A (p.Val110Met) single nucleotide variant Likely pathogenic rs33969677 GRCh37 Chromosome 11, 5246944: 5246944
26 HBB NM_000518.4(HBB): c.328G> A (p.Val110Met) single nucleotide variant Likely pathogenic rs33969677 GRCh38 Chromosome 11, 5225714: 5225714
27 HBB NM_000518.4(HBB): c.20A> T (p.Glu7Val) single nucleotide variant Pathogenic rs334 GRCh37 Chromosome 11, 5248232: 5248232
28 HBB NM_000518.4(HBB): c.20A> T (p.Glu7Val) single nucleotide variant Pathogenic rs334 GRCh38 Chromosome 11, 5227002: 5227002
29 HBB NM_000518.4(HBB): c.332T> C (p.Leu111Pro) single nucleotide variant Pathogenic rs35256489 GRCh37 Chromosome 11, 5246940: 5246940
30 HBB NM_000518.4(HBB): c.332T> C (p.Leu111Pro) single nucleotide variant Pathogenic rs35256489 GRCh38 Chromosome 11, 5225710: 5225710
31 HBB NM_000518.4(HBB): c.52A> T (p.Lys18Ter) single nucleotide variant Pathogenic rs33986703 GRCh37 Chromosome 11, 5248200: 5248200
32 HBB NM_000518.4(HBB): c.52A> T (p.Lys18Ter) single nucleotide variant Pathogenic rs33986703 GRCh38 Chromosome 11, 5226970: 5226970
33 HBB NM_000518.4(HBB): c.118C> T (p.Gln40Ter) single nucleotide variant Pathogenic rs11549407 GRCh37 Chromosome 11, 5248004: 5248004
34 HBB NM_000518.4(HBB): c.118C> T (p.Gln40Ter) single nucleotide variant Pathogenic rs11549407 GRCh38 Chromosome 11, 5226774: 5226774
35 HBB NM_000518.4(HBB): c.47G> A (p.Trp16Ter) single nucleotide variant Pathogenic rs63750783 GRCh37 Chromosome 11, 5248205: 5248205
36 HBB NM_000518.4(HBB): c.47G> A (p.Trp16Ter) single nucleotide variant Pathogenic rs63750783 GRCh38 Chromosome 11, 5226975: 5226975
37 HBB NM_000518.4(HBB): c.114G> A (p.Trp38Ter) single nucleotide variant Pathogenic/Likely pathogenic rs33974936 GRCh37 Chromosome 11, 5248008: 5248008
38 HBB NM_000518.4(HBB): c.114G> A (p.Trp38Ter) single nucleotide variant Pathogenic/Likely pathogenic rs33974936 GRCh38 Chromosome 11, 5226778: 5226778
39 HBB NM_000518.4(HBB): c.130G> T (p.Glu44Ter) single nucleotide variant Pathogenic rs33922842 GRCh37 Chromosome 11, 5247992: 5247992
40 HBB NM_000518.4(HBB): c.130G> T (p.Glu44Ter) single nucleotide variant Pathogenic rs33922842 GRCh38 Chromosome 11, 5226762: 5226762
41 HBB NM_000518.4(HBB): c.383_385delAGG (p.Gln128_Ala129delinsPro) deletion Pathogenic rs34502690 GRCh37 Chromosome 11, 5246887: 5246889
42 HBB NM_000518.4(HBB): c.383_385delAGG (p.Gln128_Ala129delinsPro) deletion Pathogenic rs34502690 GRCh38 Chromosome 11, 5225657: 5225659
43 HBB NM_000518.4(HBB): c.182T> A (p.Val61Glu) single nucleotide variant Pathogenic rs33931779 GRCh37 Chromosome 11, 5247940: 5247940
44 HBB NM_000518.4(HBB): c.182T> A (p.Val61Glu) single nucleotide variant Pathogenic rs33931779 GRCh38 Chromosome 11, 5226710: 5226710
45 HBB NM_000518.4(HBB): c.25_26delAA (p.Lys9Valfs) deletion Pathogenic rs35497102 GRCh37 Chromosome 11, 5248226: 5248227
46 HBB NM_000518.4(HBB): c.25_26delAA (p.Lys9Valfs) deletion Pathogenic rs35497102 GRCh38 Chromosome 11, 5226996: 5226997
47 HBB NM_000518.4(HBB): c.51delC (p.Lys18Argfs) deletion Pathogenic rs35662066 GRCh37 Chromosome 11, 5248201: 5248201
48 HBB NM_000518.4(HBB): c.51delC (p.Lys18Argfs) deletion Pathogenic rs35662066 GRCh38 Chromosome 11, 5226971: 5226971
49 HBB NM_000518.4(HBB): c.135delC (p.Phe46Leufs) deletion Pathogenic rs80356820 GRCh37 Chromosome 11, 5247987: 5247987
50 HBB NM_000518.4(HBB): c.135delC (p.Phe46Leufs) deletion Pathogenic rs80356820 GRCh38 Chromosome 11, 5226757: 5226757
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Expression for Beta-Thalassemia

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

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Pathways related to Beta-Thalassemia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Response to elevated platelet cytosolic Ca2+ 66
Show member pathways
 12.94 GATA1 HBB HBD HBE1 HBG1 HBG2
2
HIF-1 signaling pathway 37
11.54 EPO TF TFRC
3
Factors involved in megakaryocyte development and platelet production 66
11.3 GATA1 HBB HBD HBE1 HBG1 HBG2
4
HIF-1-alpha transcription factor network 1
11.25 EPO TF TFRC
5
Hematopoietic Stem Cell Differentiation 1
11.01 EPO GATA1 KLF1
6
Iron metabolism in placenta 1
10.21 TF TFR2 TFRC
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GO Terms for Beta-Thalassemia

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Cellular components related to Beta-Thalassemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 blood microparticle GO:0072562 9.7 HBA2 HBB HBD HBE1 HBG2 TF
2 recycling endosome GO:0055037 9.58 HFE TF TFRC
3 HFE-transferrin receptor complex GO:1990712 9.56 HFE TF TFR2 TFRC
4 haptoglobin-hemoglobin complex GO:0031838 9.43 HBA2 HBB HBD HBE1 HBG1 HBG2
5 endocytic vesicle lumen GO:0071682 9.37 HBA2 HBB
6 basal part of cell GO:0045178 9.32 HFE TF
7 hemoglobin complex GO:0005833 9.17 AHSP HBA2 HBB HBD HBE1 HBG1

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 receptor-mediated endocytosis GO:0006898 9.84 HBA2 HBB TFR2 TFRC
2 blood coagulation GO:0007596 9.8 GATA1 HBB HBD HBE1 HBG1 HBG2
3 cellular iron ion homeostasis GO:0006879 9.78 HFE TF TFR2 TFRC
4 erythrocyte differentiation GO:0030218 9.76 AHSP EPO GATA1 KLF1
5 cellular oxidant detoxification GO:0098869 9.73 HBA2 HBB HBD HBE1 HBG1 HBG2
6 acute-phase response GO:0006953 9.71 EPO HFE TFR2 UGT1A1
7 iron ion homeostasis GO:0055072 9.69 HFE TF TFR2
8 transferrin transport GO:0033572 9.67 HFE TF TFR2 TFRC
9 protein heterooligomerization GO:0051291 9.63 HBA2 HBB HBD HBE1 HBG1 HBG2
10 cellular response to iron ion GO:0071281 9.61 HFE TF TFR2
11 positive regulation of receptor-mediated endocytosis GO:0048260 9.58 HFE TF
12 response to iron ion GO:0010039 9.57 HFE TFR2
13 iron ion transport GO:0006826 9.56 TF TFR2
14 positive regulation of peptide hormone secretion GO:0090277 9.55 HFE TFR2
15 iron ion import GO:0097286 9.52 TFR2 TFRC
16 regulation of iron ion import GO:1900390 9.49 HFE TF
17 hydrogen peroxide catabolic process GO:0042744 9.43 HBA2 HBB HBD HBE1 HBG1 HBG2
18 oxygen transport GO:0015671 9.1 HBA2 HBB HBD HBE1 HBG1 HBG2

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 9.85 HBA2 HBB HBD HBE1 HBG1 HBG2
2 oxygen binding GO:0019825 9.8 HBA2 HBB HBD HBE1 HBG1 HBG2
3 peroxidase activity GO:0004601 9.73 HBA2 HBB HBD HBE1 HBG1 HBG2
4 oxygen carrier activity GO:0005344 9.63 HBA2 HBB HBD HBE1 HBG1 HBG2
5 hemoglobin alpha binding GO:0031721 9.58 HBB HBD HBE1
6 co-receptor binding GO:0039706 9.51 HFE TFR2
7 transferrin receptor binding GO:1990459 9.49 HFE TF
8 hemoglobin binding GO:0030492 9.48 AHSP HBB
9 transferrin receptor activity GO:0004998 9.46 TFR2 TFRC
10 transferrin transmembrane transporter activity GO:0033570 9.43 TFR2 TFRC
11 organic acid binding GO:0043177 9.43 HBA2 HBB HBD HBE1 HBG1 HBG2
12 haptoglobin binding GO:0031720 9.1 HBA2 HBB HBD HBE1 HBG1 HBG2
13 metal ion binding GO:0046872 10.22 BCL11A GATA1 HBA2 HBB HBD HBE1
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Sources for Beta-Thalassemia

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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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