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B-THAL
MCID: BTT014
MIFTS: 72

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 58 77 25 54 60 76 56 45 39
Beta Thalassemia 12 26 76 30 6 15 74
Mediterranean Anemia 25 54 26 60 76
Cooley's Anemia 25 54 76 3 74
Beta Thalassemia Intermedia 54 30 6 74
Thalassemia, Hispanic Gamma-Delta-Beta 58 54 13
Beta Thalassemia Major 54 30 6
Erythroblastic Anemia 54 26 76
Beta Thalassemia Minor 54 30
Thalassemia, Beta 58 41
Thalassemia Major 76 56
Thalassemia Minor 76 74
Beta-Thalassemia Intermedia 60
Microcytemia, Beta Type 26
Thalassemia, Beta Type 26
Beta-Thalassemia Major 60
Beta-Plus-Thalassemia 6
Thalassemias, Beta- 54
Beta^+^ Thalassemia 74
Cooley Anemia 60
B-Thal 76

Characteristics:

Orphanet epidemiological data:

60
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: 34 35
Orphanet: 60  
Rare renal diseases
Rare endocrine diseases
Rare haematological diseases


Sources

Summaries for Beta-Thalassemia

About this section
NIH Rare Diseases : 54 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 Glucose / Energy Metabolism. The drugs Mycophenolic acid and Basiliximab have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and liver, and related phenotypes are splenomegaly and pallor

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

Genetics Home Reference : 26 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 : 58 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 : 76 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 : 77 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 367)
# Related Disease Score Top Affiliating Genes
1 hemoglobin lepore-beta-thalassemia syndrome 34.4 HBB HBD
2 fetal hemoglobin quantitative trait locus 1 34.2 HBB HBD HBG1 HBG2
3 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome 33.9 HBB HBG1 HBG2 KLF1
4 hemoglobin e disease 31.6 HBB HBD HBE1 HBS1L
5 thalassemia 31.0 AHSP BCL11A EPO GATA1 HBA2 HBB
6 hemosiderosis 31.0 EPO HFE TF TFRC
7 hemoglobin zurich 30.7 HBA2 HBB
8 methemoglobinemia, beta-globin type 30.7 HBA2 HBB
9 heinz body anemias 30.6 HBA2 HBB
10 hemoglobin d disease 30.5 HBB HBD
11 iron metabolism disease 30.5 EPO HFE TF TFR2 TFRC
12 iron deficiency anemia 30.3 EPO HFE TF TFR2 TFRC
13 splenomegaly 30.3 CHIT1 EPO HBA2
14 hemochromatosis, type 1 30.3 HFE TF TFR2 TFRC
15 sea-blue histiocyte disease 30.3 HBB HBE1
16 hemoglobin c disease 30.3 HBB HBD HBE1
17 glucosephosphate dehydrogenase deficiency 30.2 G6PD HBB HBG2 UGT1A1
18 porphyria 30.2 GATA1 HFE TF
19 neonatal anemia 30.1 EPO HBA2 HBG1 KLF1
20 siderosis 30.1 HBB HFE TF TFRC
21 hemolytic anemia 30.1 EPO G6PD HBA2 HBB HBG2
22 sickle cell anemia 30.1 BCL11A EPO G6PD HBA2 HBB HBG1
23 porphyria cutanea tarda 30.1 HFE TF TFRC
24 methemoglobinemia 30.0 G6PD HBB HBG2
25 sickle cell disease 30.0 BCL11A EPO G6PD HBA2 HBB HBD
26 microcytic anemia 30.0 EPO HBA2 TF TFRC
27 myelodysplastic syndrome 29.6 EPO GATA1 HFE TF TFRC
28 alpha-thalassemia 29.5 EPO G6PD HBA2 HBB HBE1 HBG1
29 hemoglobinopathy 29.3 EPO HBA2 HBB HBD HBE1 HBG1
30 malaria 29.2 CHIT1 EPO G6PD HBA2 HBB TF
31 deficiency anemia 29.2 AHSP EPO G6PD GATA1 HBA2 HBB
32 hereditary spherocytosis 28.9 G6PD GATA1 HBB HBE1 HBG1 HFE
33 hemoglobin h disease 28.8 AHSP EPO G6PD HBA2 HBB HBD
34 sickle beta thalassemia 13.0
35 beta-thalassemia, dominant inclusion body type 12.9
36 thrombocytopenia with beta-thalassemia, x-linked 12.7
37 hemoglobin e-beta-thalassemia syndrome 12.6
38 sickle delta beta thalassemia 12.5
39 hemoglobin c-beta-thalassemia syndrome 12.4
40 thalassemia, beta+, silent allele 12.2
41 fetal hemoglobin quantitative trait locus 5 11.3
42 fetal hemoglobin quantitative trait locus 2 11.3
43 nephropathy with pretibial epidermolysis bullosa and deafness 11.3
44 hydrops fetalis, nonimmune 11.3
45 hepatitis 10.6
46 fetal hemoglobin quantitative trait locus 6 10.5
47 hepatitis c 10.5
48 malignant secondary hypertension 10.4 HBB HBD
49 glutathione peroxidase deficiency 10.4 HBA2 HBB
50 juvenile hereditary hemochromatosis 10.4

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

Human phenotypes related to Beta-Thalassemia:

60 33 (show top 50) (show all 61)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001744
2 pallor 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000980
3 abnormality of the skeletal system 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000924
4 microcytic anemia 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0001935
5 abnormal hemoglobin 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0011902
6 hypersplenism 60 33 hallmark (90%) Very frequent (99-80%) HP:0001971
7 genu valgum 60 33 frequent (33%) Frequent (79-30%) HP:0002857
8 depressivity 60 33 frequent (33%) Frequent (79-30%) HP:0000716
9 muscle weakness 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001324
10 respiratory insufficiency 60 33 frequent (33%) Frequent (79-30%) HP:0002093
11 hepatomegaly 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%),Frequent (79-30%) HP:0002240
12 depressed nasal bridge 60 33 frequent (33%) Frequent (79-30%) HP:0005280
13 abnormality of the dentition 60 33 frequent (33%) Frequent (79-30%) HP:0000164
14 malabsorption 60 33 frequent (33%) Frequent (79-30%) HP:0002024
15 delayed puberty 60 33 frequent (33%) Frequent (79-30%) HP:0000823
16 fever 60 33 frequent (33%) Frequent (79-30%) HP:0001945
17 osteoporosis 60 33 frequent (33%) Frequent (79-30%) HP:0000939
18 dyspnea 60 33 frequent (33%) Frequent (79-30%) HP:0002094
19 irritability 60 33 frequent (33%) Frequent (79-30%) HP:0000737
20 feeding difficulties 60 33 frequent (33%) Frequent (79-30%) HP:0011968
21 reduced bone mineral density 60 33 frequent (33%) Frequent (79-30%) HP:0004349
22 anxiety 60 33 frequent (33%) Frequent (79-30%) HP:0000739
23 hypogonadotrophic hypogonadism 60 33 frequent (33%) Frequent (79-30%) HP:0000044
24 abnormality of the skull 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000929
25 cholelithiasis 60 33 frequent (33%) Occasional (29-5%),Frequent (79-30%),Frequent (79-30%) HP:0001081
26 abnormality of temperature regulation 60 33 frequent (33%) Frequent (79-30%) HP:0004370
27 abnormality of iron homeostasis 60 33 frequent (33%) Frequent (79-30%) HP:0011031
28 jaundice 60 33 frequent (33%) Frequent (79-30%) HP:0000952
29 paresthesia 60 33 frequent (33%) Frequent (79-30%) HP:0003401
30 upslanted palpebral fissure 60 33 frequent (33%) Frequent (79-30%) HP:0000582
31 increased serum ferritin 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0003281
32 malar prominence 60 33 frequent (33%) Frequent (79-30%) HP:0010620
33 diabetes mellitus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000819
34 hypothyroidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000821
35 hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000365
36 cataract 60 33 occasional (7.5%) Occasional (29-5%) HP:0000518
37 skeletal dysplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002652
38 visual impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000505
39 arthralgia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002829
40 hypertrophic cardiomyopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0001639
41 arrhythmia 60 33 occasional (7.5%) Occasional (29-5%) HP:0011675
42 hepatitis 60 33 occasional (7.5%) Occasional (29-5%) HP:0012115
43 pulmonary arterial hypertension 60 33 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0002092
44 abnormality of the thorax 60 33 occasional (7.5%) Occasional (29-5%) HP:0000765
45 elevated hepatic transaminase 60 33 occasional (7.5%) Occasional (29-5%) HP:0002910
46 cirrhosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001394
47 cardiomyopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0001638
48 thrombocytopenia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001873
49 venous thrombosis 60 33 occasional (7.5%) Occasional (29-5%),Occasional (29-5%),Occasional (29-5%) HP:0004936
50 skin ulcer 60 33 occasional (7.5%) Occasional (29-5%),Occasional (29-5%),Occasional (29-5%) HP:0200042

Clinical features from OMIM:

613985

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance GR00327-A 8.92 EPO G6PD HBD HBG2

MGI Mouse Phenotypes related to Beta-Thalassemia:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.32 BCL11A EPO G6PD GATA1 HBS1L HFE
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 208)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mycophenolic acid Approved Phase 4,Phase 2,Phase 1 24280-93-1 446541
2
Basiliximab Approved, Investigational Phase 4 179045-86-4, 152923-56-3
3
Methotrexate Approved Phase 4 1959-05-2, 59-05-2 126941
4
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 1 22916-47-8 4189
5
leucovorin Approved Phase 4 58-05-9 143 6006
6
Deferiprone Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 30652-11-0 2972
7
Deferoxamine Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 70-51-9 2973
8
Iron Approved, Experimental Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 7439-89-6, 15438-31-0 27284 23925
9
Peginterferon alfa-2b Approved Phase 4 215647-85-1, 99210-65-8
10
Ribavirin Approved Phase 4 36791-04-5 37542
11
Peginterferon alfa-2a Approved, Investigational Phase 4 198153-51-4 5360545
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 3,Phase 1,Phase 2,Not Applicable 7440-66-6 32051
14
Zinc sulfate Approved, Investigational Phase 4 7733-02-0
15
Fludarabine Approved Phase 4,Phase 2,Phase 1,Early Phase 1,Not Applicable 75607-67-9, 21679-14-1 30751
16
Cyclophosphamide Approved, Investigational Phase 4,Phase 2,Phase 1,Not Applicable 50-18-0, 6055-19-2 2907
17
Tacrolimus Approved, Investigational Phase 4,Phase 2,Phase 1 104987-11-3 6473866 445643 439492
18
Busulfan Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 55-98-1 2478
19
Sodium Citrate Approved, Investigational Phase 4,Phase 1 68-04-2
20
Metformin Approved Phase 4 657-24-9 14219 4091
21
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
22
Calcium Approved, Nutraceutical Phase 4,Phase 2,Phase 3,Not Applicable 7440-70-2 271
23
Vitamin D3 Approved, Nutraceutical Phase 4,Not Applicable 67-97-0 5280795 6221
24
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Not Applicable 1406-16-2
25
Ergocalciferol Approved, Nutraceutical Phase 4,Not Applicable 50-14-6 5280793
26
Citric Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 1 77-92-9 311
27 Anti-Bacterial Agents Phase 4,Phase 2,Phase 1
28 Antimetabolites Phase 4,Phase 2,Phase 1,Not Applicable
29 Vitamin B Complex Phase 4
30 Anti-Infective Agents Phase 4,Phase 1,Phase 2,Not Applicable
31 Immunosuppressive Agents Phase 4,Phase 2,Phase 1,Not Applicable
32 Antimetabolites, Antineoplastic Phase 4,Phase 2,Phase 1,Not Applicable
33 Immunologic Factors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
34 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
35 Antibiotics, Antitubercular Phase 4,Phase 2,Phase 1
36 Antitubercular Agents Phase 4,Phase 2,Phase 1
37 Vitamin B9 Phase 4
38 Folate Phase 4
39 Cyclosporins Phase 4,Phase 2,Phase 1
40 Antifungal Agents Phase 4,Phase 2,Phase 1
41 Dermatologic Agents Phase 4,Phase 2,Phase 1
42 Antirheumatic Agents Phase 4,Phase 2,Phase 1,Not Applicable
43 Folic Acid Antagonists Phase 4
44 Calcineurin Inhibitors Phase 4,Phase 2,Phase 1
45 Siderophores Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
46 Chelating Agents Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1,Not Applicable
47 Iron Chelating Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
48 Vaccines Phase 4,Early Phase 1
49 Heptavalent Pneumococcal Conjugate Vaccine Phase 4
50 Micronutrients Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable

Interventional clinical trials:

(show top 50) (show all 220)
# 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 Hyalornic Acid Level in β-Thalassemic Children Treated for Hepatitis C Virus Completed NCT03961828 Phase 4 Ledipasvir 90 MG / Sofosbuvir 400 MG [Harvoni]
14 Efficacy Study in Removing Excess Iron From the Heart Completed NCT00105495 Phase 4 Ferriprox (deferiprone);Desferal (deferoxamine)
15 Pilot Study for Patients With Poor Response to Deferasirox Completed NCT00749515 Phase 4 Deferoxamine;Deferasirox
16 An Epidemiological Study to Assess Iron Overload Using MRI in Patients With Transfusional Siderosis (TIMES Study) Completed NCT01736540 Phase 4
17 The Potential Hepatoprotective Effect of Metformin in Patients With Beta Thalassemia Major Recruiting NCT02984475 Phase 4 Metformin
18 Haploidentical Hematopoietic Stem Cell Transplantation for Patients With Thalassemia Major Recruiting NCT03171831 Phase 4 Busulfan;Cyclophosphamide;Fludarabine;Mycophenolate mofetil;Tacrolimus;Methotrexate;Thymoglobulin;Basiliximab
19 L-arginine Versus Sildenafil in Children With Beta Thalassemia Associated With Pulmonary Hypertension Recruiting NCT03402191 Phase 4 L-arginine;Sildenafil
20 Safety and Efficacy of Early Treatment With Deferiprone in Infants and Young Children Recruiting NCT03591575 Phase 4 Deferiprone oral solution;Placebo
21 Study on the Mechanism of Colla Corri Asini in the Treatment of Thalassemia Patients With Pregnancy Anemia Recruiting NCT03392298 Phase 4 Colla corii asini
22 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
23 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
24 An Algorithm to Start Iron Chelation in Minimally Transfused Young Beta-thalassemia Major Patients Unknown status NCT02173951 Phase 2, Phase 3 Deferiprone
25 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
26 Therapeutic Effects of Silymarin in Patients With B-thalassemia Major Unknown status NCT00999349 Phase 2, Phase 3 Silymarin (LEGALON);Placebo
27 Therapeutic Effect and Safety of Combined Hydroxyurea With Recombinant Human Erythropoietin. Unknown status NCT01624038 Phase 2, Phase 3 Hydroxyurea ,Epiao;hydroxyurea, blood transfusion
28 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
29 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
30 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
31 Zinc Supplementation in Patients With β-Thalassemia Major Complicated With Diabetes Mellitus Completed NCT03851055 Phase 3 Zinc
32 An Extension Study of Iron Chelation Therapy With Deferasirox (ICL670) in β-thalassemia Patients With Transfusional Iron Overload Completed NCT00171210 Phase 3 Deferasirox
33 A Study of Long-term Treatment With Deferasirox in Patients With Beta-thalassemia and Transfusional Hemosiderosis Completed NCT00171171 Phase 3 deferasirox
34 Amlodipine Use in the Prevention and Treatment of Iron Overload in Patients With Thalassemia Major Completed NCT01125254 Phase 2, Phase 3 Amlodipine
35 Safety & Efficacy of ICL670 vs. Deferoxamine in Beta-thalassemia Patients With Iron Overload Due to Blood Transfusions Completed NCT00061750 Phase 3 ICL670;deferoxamine
36 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
37 Amlodipine in the Prevention and Treatment of Iron Overload in Patients With Thalassemia Major Completed NCT01395199 Phase 3 Amlodipine
38 Effect of Metoprolol on Thalassemia Cardiomyopathy Completed NCT01863173 Phase 2, Phase 3 metoprolol;placebo
39 Efficacy/Safety Study of Deferiprone Compared to Deferasirox in Paediatric Patients Completed NCT01825512 Phase 3 Deferiprone;Deferasirox
40 Efficacy and Safety of the Iron Chelator Deferiprone in Parkinson's Disease Completed NCT00943748 Phase 2, Phase 3 deferiprone;placebo
41 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
42 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
43 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
44 Denosumab Versus Zoledronic Acid in Thalassemia-Induced Osteoporosis Recruiting NCT03040765 Phase 3 Denosumab 60 MG/ML Prefilled Syringe;Zoledronic Acid 5Mg/Bag 100Ml Inj
45 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
46 the Efficacy and Safety of Sugammadex in Children 0-2 Years Old Not yet recruiting NCT03728543 Phase 2, Phase 3 Sugammadex
47 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
48 Iron Balance Study of Deferasirox, Deferoxamine and the Combination of Both Unknown status NCT00738413 Phase 1, Phase 2 Deferoxamine;Deferasirox
49 Trial of HQK-1001 in Beta Thalassemia Intermedia in Lebanon Completed NCT01642758 Phase 2 Sodium 2,2 dimethylbutyrate
50 A Study Evaluating the Safety and Efficacy of the LentiGlobin BB305 Drug Product in β-Thalassemia Major Participants Completed NCT01745120 Phase 1, Phase 2

Search NIH Clinical Center for Beta-Thalassemia

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Cochrane evidence based reviews: beta-thalassemia

Sources

Genetic Tests for Beta-Thalassemia

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Genetic tests related to Beta-Thalassemia:

# Genetic test Affiliating Genes
1 Beta Thalassemia 30 HBB HBB-LCR
2 Beta Thalassemia Minor 30
3 Beta Thalassemia Major 30
4 Beta Thalassemia Intermedia 30
Sources

Anatomical Context for Beta-Thalassemia

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MalaCards organs/tissues related to Beta-Thalassemia:

42
Bone, Bone Marrow, Liver, Heart, Testes, Spleen, Thyroid
Sources

Publications for Beta-Thalassemia

About this section

Articles related to Beta-Thalassemia:

(show top 50) (show all 3438)
# Title Authors Year
1
Successful Treatment of Acute Chest Syndrome with Manual Exchange Transfusion in a Patient with Sickle Beta+-thalassemia. ( 30713307 )
2019
2
First Report on the Coinheritance of α-Thalassemia and a Rare β-Thalassemia Compound Heterozygosity for the IVS-I-I(G>A)/IVS-II-705(T>G) Mutations in a Syrian Family. ( 30843739 )
2019
3
Atrial fibrillation in β-thalassemia patients with a focus on the role of iron-overload and oxidative stress: A review. ( 30536543 )
2019
4
The improvement of pulmonary artery pressure after bosentan therapy in patients with β-thalassemia and Doppler-defined pulmonary arterial hypertension. ( 30588128 )
2019
5
Results of Coexistence of β-Thalassemia Minor in Hb H Disease Patients. ( 30614310 )
2019
6
Luspatercept improves hemoglobin levels and blood transfusion requirements in a study of patients with beta-thalassemia. ( 30617198 )
2019
7
β-Thalassemia Mutations in Jamaica: Geographic Variation in Small Communities. ( 30626236 )
2019
8
An ICET-A survey on occult and emerging endocrine complications in patients with β-thalassemia major: Conclusions and recommendations. ( 30657116 )
2019
9
Differentially expressed plasma proteins of β-thalassemia/hemoglobin E patients in response to curcuminoids/vitamin E antioxidant cocktails. ( 30661467 )
2019
10
Long non-coding RNAs MALAT1, MIAT and ANRIL gene expression profiles in beta-thalassemia patients: a cross-sectional analysis. ( 30665334 )
2019
11
Haplotype Analysis of Three Common β-Thalassemia Mutations in Syrian Patients. ( 30669902 )
2019
12
Bone Mineral Density and Vitamin D Receptor Genetic Variants in Egyptian Children with Beta Thalassemia Major on Vitamin D Supplementation. ( 30671219 )
2019
13
Quality of Life and Depression in Turkish Patients with β-Thalassemia Major: A Cross-Sectional Study. ( 30672351 )
2019
14
Can Couples With MCV≥80, MCH<26, HbA2<3.2, HbF<3 be Classified as Low-risk β-Thalassemia Group? ( 30676434 )
2019
15
Antibody persistence 5 years after a 13-valent pneumococcal conjugate vaccine in asplenic patients with β-thalassemia: assessing the need for booster. ( 30683996 )
2019
16
The effect of splenectomy on complement regulatory proteins in erythrocytes in β-thalassemia major. ( 30697270 )
2019
17
Blood transfusion therapy for β-thalassemia major and hemoglobin E β-thalassemia: Adequacy, trends, and determinants in Sri Lanka. ( 30697927 )
2019
18
Innovative Curative Treatment of Beta Thalassemia: Cost-Efficacy Analysis of Gene Therapy Versus Allogenic Hematopoietic Stem-Cell Transplantation. ( 30700149 )
2019
19
Quality of Life of Pakistani Children with β-Thalassemia Major. ( 30700180 )
2019
20
Editing aberrant splice sites efficiently restores β-globin expression in β-thalassemia. ( 30704988 )
2019
21
Phenotypic heterogeneity of delta-beta thalassemia. ( 30706898 )
2019
22
Refugee children with beta-thalassemia in Turkey: Overview of demographic, socioeconomic, and medical characteristics. ( 30706992 )
2019
23
Cardiac complications and iron overload in beta thalassemia major patients-a systematic review and meta-analysis. ( 30729283 )
2019
24
Clinical and economic burden of regularly transfused adult patients with β-thalassemia in the United States: A retrospective cohort study using payer claims. ( 30734350 )
2019
25
N-terminal-pro-b-type natriuretic peptide levels and cardiac hemosiderosis in adolescent β-thalassemia major patients. ( 30745767 )
2019
26
Krüppel-Like Factor 1 Gene Mutations in Thalassemia Patients from North Iran: Report of a New Mutation Associated with β-Thalassemia Intermedia. ( 30747024 )
2019
27
Defective cytokine production from monocytes/macrophages of E-beta thalassemia patients in response to Pythium insidiosum infection. ( 30765134 )
2019
28
Reflection of treatment proficiency of hydroxyurea treated β-thalassemia serum samples through nuclear magnetic resonance based metabonomics. ( 30765825 )
2019
29
Occult hepatitis C virus infection in patients with beta-thalassemia major: Is it a neglected and unexplained phenomenon? ( 30775813 )
2019
30
Hb Knossos (HBB: c.82G > T), β-globin CD 5 (-CT) (HBB: c.17_18delCT) and δ-globin CD 59 (-a) (HBD: c.179delA) mutations in a Syrian patient with β-thalassemia intermedia. ( 30777047 )
2019
31
Pulmonary functions in Egyptian children with transfusion-dependent β-thalassemia. ( 30779248 )
2019
32
New thiazolidinones reduce iron overload in mouse models of hereditary hemochromatosis and β-thalassemia. ( 30792208 )
2019
33
Validation of Microarray for the Simultaneous Detection of Common α- and β-Thalassemia Gene Mutations. ( 30806653 )
2019
34
Intraocular pressure in subjects with beta-thalassemia minor. ( 30810618 )
2019
35
Comparative Proteome-Wide Analysis of Bone Marrow Microenvironment of β-Thalassemia/Hemoglobin E. ( 30813444 )
2019
36
Diagnostic Value of Non-Invasive Prenatal Screening of Β-Thalassemia by Cell Free Fetal DNA and Fetal NRBC. ( 30813874 )
2019
37
Genetic loss of Tmprss6 alters terminal erythroid differentiation in a mouse model of β-thalassemia intermedia. ( 30819909 )
2019
38
Molecular characterization of β-thalassemia intermedia in the West Bank, Palestine. ( 30820323 )
2019
39
Elevated HbF Labelled as LA1C/cHb1 on BioRad D10 HPLC: Missed Diagnosis of Homozygous Beta Thalassemia. ( 30828179 )
2019
40
Bone marrow stromal cells from β-thalassemia patients have impaired hematopoietic supportive capacity. ( 30830876 )
2019
41
Neurocognitive Function and Its Related Potentials in Children with Beta Thalassemia Major: An Egyptian Study. ( 30833995 )
2019
42
Impact of β-thalassemia trait carrier state on inflammatory status in patients with newly diagnosed hypertension. ( 30865135 )
2019
43
Effect of heterozygous beta thalassemia on HbA1c levels in individuals without diabetes mellitus: A cross sectional study. ( 30878538 )
2019
44
Assessment of thiol/disulfide balance as an oxidative stress marker in children with β-thalassemia major. ( 30881416 )
2019
45
A new form of thalassemia intermedia: Compound heterozygous beta thalassemia and hemoglobin Zurich. ( 30900795 )
2019
46
Beta-thalassemia: renal complications and mechanisms: a narrative review. ( 30947625 )
2019
47
Unrelated Donor Peripheral Blood Stem Cell Transplantation for Patients with β-Thalassemia Major Based on a Novel Conditioning Regimen. ( 30951841 )
2019
48
Non-transfusion-dependent β-Thalassemia Because of a Single β-Thalassemia Mutation and Coinherited α-Globin Gene Triplication: Need for Increased Awareness to Prevent Incorrect and Delayed Diagnosis. ( 30969263 )
2019
49
Impact of Genotype of Beta Globin Gene on Hepatic and Myocardial Iron Content in Egyptian Patients with Beta Thalassemia. ( 30988565 )
2019
50
Epidemiological, clinico-biological, therapeutic and evolutionary aspects of β-thalassemia in Morocco. ( 30998197 )
2019
Sources

Variations for Beta-Thalassemia

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

76
# 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 293)
# Gene Variation Type Significance SNP ID Assembly Location
1 HBB NM_000518.5(HBB): c.79G> A (p.Glu27Lys) single nucleotide variant Pathogenic rs33950507 GRCh37 Chromosome 11, 5248173: 5248173
2 HBB HBB, 1-BP DEL, C deletion Pathogenic
3 HBB NM_000518.4(HBB): c.19G> A (p.Glu7Lys) single nucleotide variant Pathogenic rs33930165 GRCh37 Chromosome 11, 5248233: 5248233
4 HBB NM_000518.4(HBB): c.19G> A (p.Glu7Lys) single nucleotide variant Pathogenic rs33930165 GRCh38 Chromosome 11, 5227003: 5227003
5 HBB NM_000518.4(HBB): c.208G> A (p.Gly70Ser) single nucleotide variant Conflicting interpretations of pathogenicity, other rs33947415 GRCh37 Chromosome 11, 5247914: 5247914
6 HBB NM_000518.4(HBB): c.208G> A (p.Gly70Ser) single nucleotide variant Conflicting interpretations of pathogenicity, other rs33947415 GRCh38 Chromosome 11, 5226684: 5226684
7 HBB NM_000518.4(HBB): c.364G> C (p.Glu122Gln) single nucleotide variant Conflicting interpretations of pathogenicity, other rs33946267 GRCh37 Chromosome 11, 5246908: 5246908
8 HBB NM_000518.4(HBB): c.364G> C (p.Glu122Gln) single nucleotide variant Conflicting interpretations of pathogenicity, other rs33946267 GRCh38 Chromosome 11, 5225678: 5225678
9 HBB HBB, 2-BP INS, 25TA insertion Pathogenic
10 HBB NM_000518.5(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_000518.5(HBB): c.82G> T (p.Ala28Ser) single nucleotide variant Pathogenic/Likely pathogenic rs35424040 GRCh37 Chromosome 11, 5248170: 5248170
18 HBB NM_000518.5(HBB): c.82G> T (p.Ala28Ser) single nucleotide variant Pathogenic/Likely pathogenic rs35424040 GRCh38 Chromosome 11, 5226940: 5226940
19 HBB NM_000518.5(HBB): c.59A> G (p.Asn20Ser) single nucleotide variant Pathogenic rs33972047 GRCh37 Chromosome 11, 5248193: 5248193
20 HBB NM_000518.5(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_000518.5(HBB): c.20A> T (p.Glu7Val) single nucleotide variant Pathogenic rs334 GRCh37 Chromosome 11, 5248232: 5248232
26 HBB NM_000518.5(HBB): c.20A> T (p.Glu7Val) single nucleotide variant Pathogenic rs334 GRCh38 Chromosome 11, 5227002: 5227002
27 HBB NM_000518.5(HBB): c.328G> A (p.Val110Met) single nucleotide variant Pathogenic/Likely pathogenic rs33969677 GRCh37 Chromosome 11, 5246944: 5246944
28 HBB NM_000518.5(HBB): c.328G> A (p.Val110Met) single nucleotide variant Pathogenic/Likely pathogenic rs33969677 GRCh38 Chromosome 11, 5225714: 5225714
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_000518.5(HBB): c.52A> T (p.Lys18Ter) single nucleotide variant Pathogenic rs33986703 GRCh37 Chromosome 11, 5248200: 5248200
32 HBB NM_000518.5(HBB): c.52A> T (p.Lys18Ter) single nucleotide variant Pathogenic rs33986703 GRCh38 Chromosome 11, 5226970: 5226970
33 HBB NM_000518.5(HBB): c.118C> T (p.Gln40Ter) single nucleotide variant Pathogenic rs11549407 GRCh37 Chromosome 11, 5248004: 5248004
34 HBB NM_000518.5(HBB): c.118C> T (p.Gln40Ter) single nucleotide variant Pathogenic rs11549407 GRCh38 Chromosome 11, 5226774: 5226774
35 HBB NM_000518.5(HBB): c.47G> A (p.Trp16Ter) single nucleotide variant Pathogenic rs63750783 GRCh37 Chromosome 11, 5248205: 5248205
36 HBB NM_000518.5(HBB): c.47G> A (p.Trp16Ter) single nucleotide variant Pathogenic rs63750783 GRCh38 Chromosome 11, 5226975: 5226975
37 HBB NM_000518.5(HBB): c.114G> A (p.Trp38Ter) single nucleotide variant Pathogenic/Likely pathogenic rs33974936 GRCh37 Chromosome 11, 5248008: 5248008
38 HBB NM_000518.5(HBB): c.114G> A (p.Trp38Ter) single nucleotide variant Pathogenic/Likely pathogenic rs33974936 GRCh38 Chromosome 11, 5226778: 5226778
39 HBB NM_000518.5(HBB): c.130G> T (p.Glu44Ter) single nucleotide variant Pathogenic rs33922842 GRCh37 Chromosome 11, 5247992: 5247992
40 HBB NM_000518.5(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
Sources

Expression for Beta-Thalassemia

About this section
Search GEO for disease gene expression data for Beta-Thalassemia.
Sources

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+ 67
Show member pathways
 12.94 GATA1 HBB HBD HBE1 HBG1 HBG2
2
Glucose / Energy Metabolism 4
12.2 G6PD HBB HBG1 UGT1A1
3
HIF-1 signaling pathway 38
11.54 EPO TF TFRC
4
Factors involved in megakaryocyte development and platelet production 67
11.3 GATA1 HBB HBD HBE1 HBG1 HBG2
5
HIF-1-alpha transcription factor network 1
11.25 EPO TF TFRC
6
Hematopoietic Stem Cell Differentiation 1
11.01 EPO GATA1 KLF1
7
Iron metabolism in placenta 1
10.21 TF TFR2 TFRC
Sources

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 9.81 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 response to organic cyclic compound GO:0014070 9.75 G6PD HBE1 UGT1A1
6 cellular oxidant detoxification GO:0098869 9.73 HBA2 HBB HBD HBE1 HBG1 HBG2
7 acute-phase response GO:0006953 9.71 EPO HFE TFR2 UGT1A1
8 iron ion homeostasis GO:0055072 9.67 HFE TF TFR2
9 transferrin transport GO:0033572 9.67 HFE TF TFR2 TFRC
10 protein heterooligomerization GO:0051291 9.63 HBA2 HBB HBD HBE1 HBG1 HBG2
11 cellular response to iron ion GO:0071281 9.61 HFE TF TFR2
12 positive regulation of receptor-mediated endocytosis GO:0048260 9.57 HFE TF
13 response to iron ion GO:0010039 9.56 HFE TFR2
14 iron ion transport GO:0006826 9.55 TF TFR2
15 erythrocyte maturation GO:0043249 9.54 EPO G6PD
16 positive regulation of peptide hormone secretion GO:0090277 9.52 HFE TFR2
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 14)
# 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 protein binding GO:0005515 10.43 AHSP EPO G6PD GATA1 HBA2 HBB
14 metal ion binding GO:0046872 10.24 BCL11A GATA1 HBA2 HBB HBD HBE1
Sources

Sources for Beta-Thalassemia

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