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B-THAL
MCID: BTT014
MIFTS: 74

Beta-Thalassemia (B-THAL)

Categories: Blood diseases, Endocrine diseases, Genetic diseases, Immune 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 56 74 24 52 58 73 54 43 37
Beta Thalassemia 12 25 73 29 6 15 71
Mediterranean Anemia 24 52 25 58 73
Cooley's Anemia 24 52 73 3 71
Beta Thalassemia Intermedia 52 29 6 71
Thalassemia, Hispanic Gamma-Delta-Beta 56 52 13
Beta Thalassemia Major 52 29 6
Erythroblastic Anemia 52 25 73
Beta Thalassemia Minor 52 29
Thalassemia, Beta 56 39
Thalassemia Major 73 54
Thalassemia Minor 73 71
Beta-Thalassemia Intermedia 58
Microcytemia, Beta Type 25
Thalassemia, Beta Type 25
Beta-Thalassemia Major 58
Beta-Plus-Thalassemia 6
Thalassemias, Beta- 52
Beta^+^ Thalassemia 71
Cooley Anemia 58
B-Thal 73

Characteristics:

Orphanet epidemiological data:

58
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
Anatomical: Immune diseases Blood diseases Nephrological diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare renal diseases
Rare endocrine diseases
Rare haematological diseases


Sources

Summaries for Beta-Thalassemia

About this section
NIH Rare Diseases : 52 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 thrombocytopenia with beta-thalassemia, x-linked and hemoglobin lepore-beta-thalassemia syndrome. 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 Peginterferon alfa-2a and Ribavirin have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and liver, and related phenotypes are splenomegaly and osteoporosis

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. In people with beta thalassemia, low levels of hemoglobin lead to a lack of oxygen in many parts of the body. Affected individuals also have a shortage of red blood cells (anemia), which can cause pale skin, weakness, fatigue, and more serious complications. People with beta thalassemia are at an increased risk of developing abnormal blood clots. Beta thalassemia is classified into two types depending on the severity of symptoms: thalassemia major (also known as Cooley's anemia) and thalassemia intermedia. Of the two types, thalassemia major is more severe. The signs and symptoms of thalassemia major appear within the first 2 years of life. Children develop life-threatening anemia. They do not gain weight and grow at the expected rate (failure to thrive) and may develop yellowing of the skin and whites of the eyes (jaundice). Affected individuals may have an enlarged spleen, liver, and heart, and their bones may be misshapen. Some adolescents with thalassemia major experience delayed puberty. Many people with thalassemia major have such severe symptoms that they need frequent blood transfusions to replenish their red blood cell supply. Over time, an influx of iron-containing hemoglobin from chronic blood transfusions can lead to a buildup of iron in the body, resulting in liver, heart, and hormone problems. Thalassemia intermedia is milder than thalassemia major. The signs and symptoms of thalassemia intermedia appear in early childhood or later in life. Affected individuals have mild to moderate anemia and may also have slow growth and bone abnormalities.

OMIM : 56 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. When there isn't enough hemoglobin, the body's red blood cells don't function properly and they last shorter periods of time, so there are fewer healthy red blood cells traveling in the bloodstream. Red blood cells carry oxygen to all the cells of the body. Oxygen is a sort of food that cells use to function. When there are not enough healthy red blood cells, there is also not enough oxygen delivered to all the other cells of the body, which may cause a person to feel tired, weak or short of breath. This is a condition called anemia. People with thalassemia may have mild or severe anemia. Severe anemia can damage organs and lead to death.

UniProtKB/Swiss-Prot : 73 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 : 74 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
Beta-Thalassemia and Related Diseases Alpha-Thalassemia and Related Diseases

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

(show top 50) (show all 646)
# Related Disease Score Top Affiliating Genes
1 thrombocytopenia with beta-thalassemia, x-linked 35.1 KLF1 HBG2 GATA1 BCL11A
2 hemoglobin lepore-beta-thalassemia syndrome 34.9 HBD HBB
3 fetal hemoglobin quantitative trait locus 1 34.8 HBG2 HBG1 HBD HBB
4 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome 34.6 KLF1 HBG2 HBG1 HBB
5 anemia, congenital dyserythropoietic, type iii 32.8 KLF1 GATA1
6 hemoglobin e disease 32.3 HBE1 HBD HBB
7 hemosiderosis 32.2 TFRC TFR2 TF HFE EPO
8 thalassemia 32.0 UGT1A1 TFRC TFR2 TF KLF1 HFE
9 splenomegaly 32.0 HBA2 EPO CHIT1
10 siderosis 31.6 TFRC TFR2 TF HFE HBB
11 sickle cell disease 31.5 HBS1L HBG2 HBG1 HBD HBB HBA2
12 hydrops fetalis, nonimmune 31.5 HBB HBA2
13 sickle cell anemia 31.5 UGT1A1 HBS1L HBG2 HBG1 HBB HBA2
14 iron metabolism disease 31.4 TFRC TFR2 TF HFE HBB HBA2
15 hypochromic microcytic anemia 31.4 TFRC TFR2 TF HBB HBA2
16 iron deficiency anemia 31.3 TFRC TFR2 TF HFE HBG2 G6PD
17 hemoglobin d disease 31.3 HBE1 HBD HBB
18 neutropenia 31.3 UGT1A1 TFRC GATA1 EPO
19 splenic sequestration 31.2 HBB EPO
20 bilirubin metabolic disorder 31.2 UGT1A1 HBG2 G6PD
21 hemochromatosis, type 1 31.2 TFRC TFR2 TF HFE HBS1L HBB
22 polycythemia 31.2 TFRC HBB HBA2 EPO
23 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 31.2 TFRC TFR2 TF HFE HBB HBA2
24 hemoglobin zurich 31.1 HBB HBA2
25 deficiency anemia 31.1 TFRC TFR2 TF HFE HBS1L HBG2
26 microcytic anemia 31.1 TFRC TFR2 TF HFE HBB HBA2
27 erythroleukemia, familial 31.1 KLF1 HBG1 HBB GATA1 EPO
28 glucosephosphate dehydrogenase deficiency 31.1 UGT1A1 HBG2 HBE1 HBB G6PD
29 hemolytic anemia 31.1 UGT1A1 TFRC TF KLF1 HBG2 HBG1
30 acute chest syndrome 31.0 HBB HBA2 G6PD BCL11A
31 hereditary elliptocytosis 31.0 HBE1 HBB G6PD
32 methemoglobinemia, beta-globin type 31.0 HBB HBA2
33 hemoglobin c disease 31.0 HBE1 HBD HBB
34 neonatal anemia 30.9 KLF1 HBA2 EPO
35 congenital dyserythropoietic anemia 30.9 TFRC KLF1 HFE GATA1 EPO
36 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome 30.9 KLF1 HBG2 HBG1 HBB BCL11A
37 anemia, congenital dyserythropoietic, type ia 30.9 TFRC KLF1 GATA1 EPO
38 hemoglobinopathy 30.8 UGT1A1 TFRC TFR2 TF KLF1 HFE
39 sideroblastic anemia 30.7 TFRC TFR2 HFE
40 alpha-thalassemia 30.7 UGT1A1 TFRC KLF1 HFE HBS1L HBG2
41 porphyria cutanea tarda 30.7 TFRC TFR2 TF HFE EPO
42 hemochromatosis, type 3 30.6 TFRC TFR2 HFE
43 porphyria 30.6 TFRC TFR2 TF HFE GATA1 EPO
44 methemoglobinemia 30.6 HBG2 HBB G6PD
45 hemoglobin h disease 30.5 TFRC TF HBG2 HBE1 HBD HBB
46 plasmodium falciparum malaria 30.5 HBB G6PD CHIT1
47 hemochromatosis type 2 30.4 TFRC TFR2 HFE
48 wilson disease 30.4 TFRC TF HFE
49 red cell aplasia 30.4 TF EPO
50 hereditary spherocytosis 30.4 UGT1A1 TFRC KLF1 HFE HBG2 HBG1

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:

58 31 (show top 50) (show all 83)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 58 31 occasional (7.5%) Very frequent (99-80%),Occasional (29-5%) HP:0001744
2 osteoporosis 58 31 frequent (33%) Frequent (79-30%),Very frequent (99-80%) HP:0000939
3 pallor 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Frequent (79-30%) HP:0000980
4 microcytic anemia 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001935
5 abnormal hemoglobin 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0011902
6 hypersplenism 58 31 hallmark (90%) Very frequent (99-80%) HP:0001971
7 persistence of hemoglobin f 58 31 hallmark (90%) Very frequent (99-80%) HP:0011904
8 anemia of inadequate production 58 31 hallmark (90%) Very frequent (99-80%) HP:0010972
9 decreased mean corpuscular volume 58 31 hallmark (90%) Very frequent (99-80%) HP:0025066
10 hepatomegaly 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%),Occasional (29-5%) HP:0002240
11 depressed nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0005280
12 abnormality of the dentition 58 31 frequent (33%) Frequent (79-30%) HP:0000164
13 malabsorption 58 31 frequent (33%) Frequent (79-30%) HP:0002024
14 delayed puberty 58 31 frequent (33%) Frequent (79-30%) HP:0000823
15 muscle weakness 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001324
16 fever 58 31 frequent (33%) Frequent (79-30%) HP:0001945
17 dyspnea 58 31 frequent (33%) Frequent (79-30%) HP:0002094
18 irritability 58 31 frequent (33%) Frequent (79-30%) HP:0000737
19 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
20 genu valgum 58 31 frequent (33%) Frequent (79-30%) HP:0002857
21 skin ulcer 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%),Frequent (79-30%) HP:0200042
22 reduced bone mineral density 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0004349
23 anxiety 58 31 frequent (33%) Frequent (79-30%) HP:0000739
24 depressivity 58 31 frequent (33%) Frequent (79-30%) HP:0000716
25 respiratory insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0002093
26 abnormality of temperature regulation 58 31 frequent (33%) Frequent (79-30%) HP:0004370
27 abnormality of iron homeostasis 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0011031
28 cholelithiasis 58 31 frequent (33%) Occasional (29-5%),Frequent (79-30%),Occasional (29-5%) HP:0001081
29 jaundice 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000952
30 upslanted palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0000582
31 paresthesia 58 31 frequent (33%) Frequent (79-30%) HP:0003401
32 increased serum ferritin 58 31 frequent (33%) Frequent (79-30%) HP:0003281
33 increased susceptibility to fractures 58 31 frequent (33%) Frequent (79-30%) HP:0002659
34 malar prominence 58 31 frequent (33%) Frequent (79-30%) HP:0010620
35 hypercoagulability 58 31 frequent (33%) Frequent (79-30%) HP:0100724
36 extramedullary hematopoiesis 58 31 frequent (33%) Frequent (79-30%) HP:0001978
37 erythroid hyperplasia 58 31 frequent (33%) Frequent (79-30%) HP:0012132
38 increased hba2 hemoglobin 58 31 frequent (33%) Frequent (79-30%) HP:0045048
39 hypogonadotropic hypogonadism 31 frequent (33%) HP:0000044
40 abnormal skull morphology 31 frequent (33%) HP:0000929
41 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
42 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
43 skeletal dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002652
44 visual impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000505
45 hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%),Very rare (<4-1%) HP:0000821
46 hypertrophic cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001639
47 arrhythmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0011675
48 arthralgia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002829
49 hepatitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0012115
50 cirrhosis 58 31 occasional (7.5%) Occasional (29-5%),Very rare (<4-1%) HP:0001394

Clinical features from OMIM:

613985

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

26
# 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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.36 BCL11A EPO G6PD GATA1 HBA2 HBS1L
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 202)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Peginterferon alfa-2a Approved, Investigational Phase 4 198153-51-4 5360545
2
Ribavirin Approved Phase 4 36791-04-5 37542
3
Peginterferon alfa-2b Approved Phase 4 99210-65-8, 215647-85-1
4
Deferoxamine Approved, Investigational Phase 4 70-51-9 2973
5
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
6
Zinc Approved, Investigational Phase 4 7440-66-6 32051
7
Ledipasvir Approved Phase 4 1256388-51-8 67505836
8
Sofosbuvir Approved Phase 4 1190307-88-0 45375808
9
Zinc sulfate Approved, Investigational Phase 4 7733-02-0
10
Velpatasvir Approved, Investigational Phase 4 1377049-84-7 67683363
11
Metformin Approved Phase 4 657-24-9 14219 4091
12
leucovorin Approved Phase 4 58-05-9 6006 143
13
Methotrexate Approved Phase 4 59-05-2, 1959-05-2 126941
14
Basiliximab Approved, Investigational Phase 4 152923-56-3, 179045-86-4
15
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
16 Interferon alpha-2 Phase 4
17 interferons Phase 4
18 Interferon-alpha Phase 4
19 Anti-Infective Agents Phase 4
20 Antiviral Agents Phase 4
21 Heptavalent Pneumococcal Conjugate Vaccine Phase 4
22 Trace Elements Phase 4
23 Micronutrients Phase 4
24 Nutrients Phase 4
25 Ledipasvir, sofosbuvir drug combination Phase 4
26 Vasodilator Agents Phase 4
27 Hypoglycemic Agents Phase 4
28 Vitamin B Complex Phase 4
29 Folic Acid Antagonists Phase 4
30 Folate Phase 4
31 Vitamin B9 Phase 4
32 Phosphodiesterase 5 Inhibitors Phase 4
33 Phosphodiesterase Inhibitors Phase 4
34 Sildenafil Citrate Phase 4 171599-83-0
35 Thymoglobulin Phase 4
36
Arginine Investigational, Nutraceutical Phase 4 74-79-3 6322
37
Amlodipine Approved Phase 2, Phase 3 88150-42-9 2162
38
Deferiprone Approved Phase 2, Phase 3 30652-11-0 2972
39
Hydroxyurea Approved Phase 2, Phase 3 127-07-1 3657
40
carbamide peroxide Approved Phase 2, Phase 3 124-43-6
41
Sodium citrate Approved, Investigational Phase 3 68-04-2
42
Propofol Approved, Investigational, Vet_approved Phase 2, Phase 3 2078-54-8 4943
43
Rocuronium Approved Phase 2, Phase 3 119302-91-9, 143558-00-3 441290
44
Sevoflurane Approved, Vet_approved Phase 2, Phase 3 28523-86-6 5206
45
Zoledronic Acid Approved Phase 3 118072-93-8 68740
46
Denosumab Approved Phase 3 615258-40-7
47
Bosentan Approved, Investigational Phase 3 147536-97-8 104865
48
Vitamin C Approved, Nutraceutical Phase 2, Phase 3 50-81-7 5785 54670067
49
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
50 Epoetin alfa Phase 2, Phase 3 113427-24-0

Interventional clinical trials:

(show top 50) (show all 248)
# Name Status NCT ID Phase Drugs
1 Study of the B Memory Cell Response to Vaccination With the 13-valent Pneumococcal Conjugate Vaccine in Asplenic Individuals With Beta-thalassemia Major Unknown status NCT01846923 Phase 4
2 A Randomized, Placebo Controlled, Double Blind Trial of the Effect of Combined Therapy With Deferoxamine and Deferiprone on Myocardial Iron in Thalassemia Major Using Cardiovascular Magnetic Resonance Unknown status NCT00103753 Phase 4 deferiprone
3 Efficacy of Basiliximab in the Prevention of Acute Graft-versus-host Disease in Unrelated Allogeneic Hematopoietic Stem Cell Transplantation Therapy for Thalassemia Major Treatment: a Multi-center, Open, Randomized, Controlled Clinical Study Unknown status NCT02342145 Phase 4 Basiliximab,;cyclosporine A;Methotrexate;Mycophenolate mofetil
4 Phase IV Study of Effectiveness of Interferon and Ribavirin Treatment in Thalassemia Major Patients With Chronic Viral Hepatitis C Unknown status NCT00887081 Phase 4 PEG-IFN alpha2a or PEG-IFN alpha2b and Ribavirin
5 The Effect of Vitamin D Supplementation on Calcium Excretion in Thalassemia: a Dose Response Study Unknown status NCT01323608 Phase 4 Vitamin D3;Placebo
6 Investigation of Signal Pathway Induced by Colla Corri Asini Regulating Globin Level in Beta Thalassemia Patients With Pregnancy Anemia Unknown status NCT03392298 Phase 4 Colla corii asini
7 A Phase II, Multi-center, Single-arm, Prospective Study to Evaluate the Safety and Efficacy of Deferasirox in Beta-thalassemia Major Patients After Hematopoietic Stem Cell Transplantation. Completed NCT01610297 Phase 4 ICL670
8 1-year Extension to CICL670A2402 an Open-label, Multi-center Trial of the Efficacy and Safety of Long-term Treatment With Deferasirox (10 to 20 mg/kg/Day) in Beta-thalassemia Patients With Transfusional Hemosiderosis (Study Amended to 2- Year Duration) Completed NCT00171301 Phase 4 Deferasirox
9 Increased Survival and Reversion of Iron-Induced Cardiac Disease in Patients With Thalassemia Major Receiving Intensive Combined Chelation Therapy Completed NCT00800761 Phase 4 Deferoxamine and Deferiprone;Deferoxamine
10 Evaluating the Efficacy of Deferasirox in Transfusion Dependent Chronic Anaemias (Myelodysplastic Syndrome, Beta-thalassaemia Patients) With Chronic Iron Overload Completed NCT00564941 Phase 4 deferasirox
11 Phase IV Study of the Use of Sequential DFP-DFO Versus DFP in Thalassemia Major Patients Completed NCT00733811 Phase 4 Deferiprone (DFP) and Deferoxamine (DFO);Deferiprone (DFP)
12 Randomized Trial Comparing the Relative Efficacy of Deferiprone to That of Deferoxamine in Removing Excess Cardiac Iron in Thalassemia Major Patients Completed NCT00105495 Phase 4 Ferriprox (deferiprone);Desferal (deferoxamine)
13 Pneumococcal Vaccination for Splenectomised Thalassemia Major Patients in Indonesia Completed NCT03095326 Phase 4 Sucrose
14 Zinc Supplementation on Cellular Immunity in Thalassemia Major Completed NCT03117192 Phase 4 Zinc Sulfate;Sucrose Syrup
15 Evaluation of Liver Fibrosis by Serum Hyalornic Acid Measurement in β-Thalassemic Children Infected With Hepatitis C Virus Before and After Direct-Acting Antiviral Therapy Completed NCT03961828 Phase 4 Ledipasvir 90 MG / Sofosbuvir 400 MG [Harvoni]
16 Pilot Pharmacokinetic Study In Patients With Inadequate Response To Deferasirox (Exjade) Completed NCT00749515 Phase 4 Deferoxamine;Deferasirox
17 Sofosbuvir/Ledipasvir for Hepatitis C Genotype 1-6 in Patients With Transfusion-Dependent Thalassemia: An Open Label Trial Completed NCT03032666 Phase 4 sofosbuvir/velpatasvir
18 The Potential Hepatoprotective Effect of Metformin in Patients With Beta Thalasemia Major Recruiting NCT02984475 Phase 4 Metformin
19 Comparative Clinical Study Evaluating the Effect of L-arginine Versus Sildenafil in Children With Beta Thalassemia Associated With Pulmonary Hypertension Recruiting NCT03402191 Phase 4 L-arginine;Sildenafil
20 Hematopoietic Stem Cell Transplantation for Patients With Thalassemia Major: A Multicenter, Prospective Clinical Study Recruiting NCT04009525 Phase 4 Busulfan;Cyclophosphamide;Fludarabine;Thymoglobulin;cyclosporine A;Mycophenolate mofetil;Tacrolimus;Methotrexate;Basiliximab;Ruxolitinib
21 Haploidentical Hematopoietic Stem Cell Transplantation for Patients With Thalassemia Major Recruiting NCT03171831 Phase 4 Busulfan;Cyclophosphamide;Fludarabine;Mycophenolate mofetil;Tacrolimus;Methotrexate;Thymoglobulin;Basiliximab
22 Safety and Efficacy of Early-start Deferiprone Treatment in Infants and Young Children Newly Diagnosed With Transfusion-dependent Beta Thalassemia Active, not recruiting NCT03591575 Phase 4 Deferiprone oral solution;Placebo
23 Prospective Crossover Study on Beta(ß)-Thalassaemia Transfusion-dependent to Evaluate the Impact on Transfusion Regimen of Two Pre-storage Leukoreduced PRBCs(In-line Filtration + B-C Separation; Whole Blood Filtration + B-C Conservation) Enrolling by invitation NCT03992001 Phase 4
24 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
25 Zoledronic Acid for the Prevention of Bone Loss Post-bone Marrow Transplantation for Thalassemia Major Patients: A Prospective Pilot Study Unknown status NCT01016093 Phase 2, Phase 3 Zoledronic acid;Placebo
26 A Decisional Algorithm to Start Iron Chelation in Minimally Transfused Young Beta-thalassemia Major Patients Naive to Iron Chelation Therapy. A Comparative Randomized Prospective Study Unknown status NCT02173951 Phase 2, Phase 3 Deferiprone
27 Combined Therapy of Silymarin and Desferrioxamine in Patients With B-thalassemia Major: a Randomized Double-blind Clinical Trial Unknown status NCT00999349 Phase 2, Phase 3 Silymarin (LEGALON);Placebo
28 A Prospective Randomized Comparative Study of Efficacy and Safety of Combined Deferiprone (DFP) and Deferasirox Versus DFP and Desferrioxamine (DFO) Therapy in Diseases With Severe Iron Overload Unknown status NCT01511848 Phase 2, Phase 3 DFP (ferriprox) and deferasirox (ICL 670);DFP, DFO
29 Study of Safty and Efficacy of Adjuvant Vitamin c in Augmenting Iron Chelation Unknown status NCT02083575 Phase 2, Phase 3 Vitamin C, Defriprone, deferisarox;deferiprone , deferesarox
30 Phase 2 Study of Therapeutic Effect and Safety of Combined Hydroxyurea With Recombinant Human Erythropoietin. Unknown status NCT01624038 Phase 2, Phase 3 Hydroxyurea ,Epiao;hydroxyurea, blood transfusion
31 A Study of Efficacy and Safety of Long-term Treatment With Deferasirox in Patients With Beta-thalassemia and Transfusional Hemosiderosis Completed NCT00171171 Phase 3 deferasirox
32 Effect of Zinc Supplementation on Glucose Homeostasis in Patients With β-Thalassemia Major Complicated With Diabetes Mellitus Completed NCT03851055 Phase 3 Zinc
33 A Randomized Controlled Study to Evaluate Efficacy and Safety of S 303 Treated Red Blood Cells (RBC) in Subjects With Thalassemia Major Requiring Chronic RBC Transfusion Completed NCT01740531 Phase 3
34 Multicentre, Randomised, Open Label, Non-inferiority Trial to Evaluate the Efficacy and Safety of Deferiprone Compared to Deferasirox in Patients Aged From 1 Month to Less Than 18 Years Affected by Transfusion Dependent Haemoglobinopathies Completed NCT01825512 Phase 3 Deferiprone;Deferasirox
35 Amlodipine Use in the Prevention and Treatment of Iron Overload in Patients With Thalassemia Major Completed NCT01125254 Phase 2, Phase 3 Amlodipine
36 Amlodipine in the Prevention and Treatment of Iron Overload in Patients With Thalassemia Major: a Randomized, Controlled Trial Completed NCT01395199 Phase 3 Amlodipine
37 A Randomized, Comparative, Open Label Phase III Trial on Efficacy & Safety of Long-term Treatment With ICL670 Compared to Deferoxamine in Beta-thalassemia Patients With Transfusional Hemosiderosis Completed NCT00061750 Phase 3 ICL670;deferoxamine
38 An Extension Study of Iron Chelation Therapy With Deferasirox (ICL670)in β-thalassemia Patients With Transfusional Iron Overload Completed NCT00171210 Phase 3 Deferasirox
39 Efficacy and Safety of the Iron Chelator Deferiprone on Iron Overload in the Brain in Parkinson's Disease Completed NCT00943748 Phase 2, Phase 3 deferiprone;placebo
40 Impact of Combination Therapy Between Hydroxy Urea, Omega 3, Nigella Sativa and Honey on Antioxidant-oxidant Status and Reduction of Iron Overload in Pediatric Major Thalassemia Recruiting NCT04292314 Phase 2, Phase 3 Omega 3;Nigella Sativa Oil;Hydroxyurea;Honey;Deferoxamine
41 Pharmacokinetics of Sofosbuvir and Ledipasvir in Hepatitis C Virus - Infected Adolescent Patients With Haematological Disorders Recruiting NCT04353986 Phase 3 Sofosbuvir and Ledipasvir
42 A Phase 3 Single Arm Study Evaluating the Efficacy and Safety of Gene Therapy in Subjects With Transfusion-dependent β-Thalassemia by Transplantation of Autologous CD34+ Stem Cells Transduced Ex Vivo With a Lentiviral βA-T87Q-Globin Vector in Subjects ≤50 Years of Age Recruiting NCT03207009 Phase 3
43 A Phase 3b, Open Label, Single-arm Rollover Study to Evaluate Long Term Safety in Subjects Who Have Participated in Other Luspatercept (Ace-536) Clinical Trials. Recruiting NCT04064060 Phase 3 Luspatercept
44 A Phase 3 Single Arm Study Evaluating the Efficacy and Safety of Gene Therapy in Subjects With Transfusion-dependent β-Thalassemia, Who do Not Have a β0/β0 Genotype, by Transplantation of Autologous CD34+ Stem Cells Transduced Ex Vivo With a Lentiviral βA-T87Q-Globin Vector in Subjects ≤50 Years of Age Active, not recruiting NCT02906202 Phase 3
45 A Phase 3, Double-Blind, Placebo Controlled Multicenter Study to Determine the Efficacy and Safety of Luspatercept (ACE-536) in Adults With Transfusion Dependent Beta (B)-Thalassemia Active, not recruiting NCT02604433 Phase 3 Luspatercept
46 Efficacy and Safety Study of Sugammadex in Children 0-2 Years Old Not yet recruiting NCT03728543 Phase 2, Phase 3 Sugammadex
47 Denosumab Versus Zoledronic Acid for Patients With Beta-Thalassemia Major-Induced Osteoporosis Terminated NCT03040765 Phase 3 Denosumab 60 MG/ML Prefilled Syringe;Zoledronic Acid 5Mg/Bag 100Ml Inj
48 Long-Term, Open-Label, Multicenter, Extension Study of Bosentan in Patients With Pulmonary Hypertension Associated With Sickle Cell Disease Completing a Double-Blind ASSET Study (AC-052-368 or AC 052-369) Terminated NCT00360087 Phase 3 Bosentan
49 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
50 An Open Label Randomized Controlled Trial to Evaluate the Efficacy and Safety of HYDROXYUREA in Management of Beta Thalassemia Patients in Karachi Pakistan Unknown status NCT03183375 Phase 2 Hydroxyurea

Search NIH Clinical Center for Beta-Thalassemia

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Sodium phenylbutyrate

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 Minor 29
4 Beta Thalassemia Major 29
Sources

Anatomical Context for Beta-Thalassemia

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MalaCards organs/tissues related to Beta-Thalassemia:

40
Bone, Bone Marrow, Liver, Heart, Testes, Spleen, Skin
Sources

Publications for Beta-Thalassemia

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Articles related to Beta-Thalassemia:

(show top 50) (show all 6073)
# Title Authors PMID Year
1
Interaction of malaria with a common form of severe thalassemia in an Asian population. 56 61 6
19841268 2009
2
The inherited diseases of hemoglobin are an emerging global health burden. 6 56
20233970 2010
3
Global epidemiology of haemoglobin disorders and derived service indicators. 56 6
18568278 2008
4
Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia. 56 24 61
18245381 2008
5
Transfusion independence and HMGA2 activation after gene therapy of human β-thalassaemia. 24 56
20844535 2010
6
Beta-thalassemia. 61 54 56
20098328 2010
7
A novel silent beta-thalassemia mutation in the distal CACCC box affects the binding and responsiveness to EKLF. 61 6 54
15352994 2004
8
Molecular characterization of beta-thalassemia intermedia in patients of Italian descent and identification of three novel beta-thalassemia mutations. 6 54 61
2001456 1991
9
A novel frameshift mutation at codon 66 (HBB:c.del201A) in the β-globin gene leads to beta-thalassemia. 61 6
20532507 2011
10
Association of α globin gene quadruplication and heterozygous β thalassemia in patients with thalassemia intermedia. 54 61 24
19794088 2009
11
Hematopoietic stem cell gene transfer for the treatment of hemoglobin disorders. 54 61 24
20008255 2009
12
Hematological and molecular analysis of novel and rare beta-thalassemia mutations in the Indian population. 6 61
19205975 2009
13
Hb Showa-Yakushiji [beta110(G12)Leu-->Pro] in four unrelated patients from west Bengal. 61 6
15768552 2005
14
Genetic heterogeneity of Beta thalassemia in Lebanon reflects historic and recent population migration. 56 61
15638828 2005
15
Molecular spectrum of beta-thalassemia in the Mexican population. 6 61
15315794 2004
16
The 'hot-spot' of Hb E [beta26(B8)Glu-->Lys] in Southeast Asia: beta-globin anomalies in the Lao Theung population of southern Laos. 6 61
15481886 2004
17
Compound heterozygosity for two new mutations in the beta-globin gene [codon 9 (+TA) and polyadenylation site (AATAAA-->AAAAAA)] leads to thalassemia intermedia in a Tunisian patient. 6 61
15481893 2004
18
A frameshift at codons 77/78 (-C): a novel beta-thalassemia mutation. 61 6
15481896 2004
19
MS analysis of single-nucleotide differences in circulating nucleic acids: Application to noninvasive prenatal diagnosis. 56 61
15247415 2004
20
Bone histomorphometry in children and adolescents with beta-thalassemia disease: iron-associated focal osteomalacia. 61 56
12915694 2003
21
The global distribution of length polymorphisms of the promoters of the glucuronosyltransferase 1 gene (UGT1A1): hematologic and evolutionary implications. 61 6
12850492 2003
22
Hemoglobin E: a balanced polymorphism protective against high parasitemias and thus severe P falciparum malaria. 6 61
12149194 2002
23
Different substitutions at residue D218 of the X-linked transcription factor GATA1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with variable skewed X inactivation. 24 54 61
11809723 2002
24
A Korean family with a dominantly inherited beta-thalassemia due to Hb Durham-N.C./Brescia. 6 61
11300352 2001
25
Beta-Thalassemia 61 6
20301599 2000
26
Genetic modifying factors in beta-thalassemia. 61 56
10834399 2000
27
A significant beta-thalassemia heterogeneity in the United Arab Emirates. 6 61
9140720 1997
28
Interaction of hemoglobin E and pyrimidine 5' nucleotidase deficiency. 6 61
8839873 1996
29
Beta-thalassaemia in indigenous Belgian families: identification of a novel mutation. 6 61
8682512 1996
30
Mild beta+(-87)-thalassemia CACCC box mutation is associated with elevated fetal hemoglobin expression in cis. 6 61
7507641 1994
31
Identification of two novel beta zero-thalassemia mutations in a Filipino family: frameshift codon 67 (-TG) and a beta-globin gene deletion. 61 6
8257991 1993
32
Black beta-thalassemia homozygotes with specific sequence variations in the 5' hypersensitive site-2 of the locus control region have high levels of fetal hemoglobin. 6 61
1384315 1992
33
Dominant thalassemia-like phenotypes associated with mutations in exon 3 of the beta-globin gene. 61 6
1586746 1992
34
Two mutations in the beta-globin polyadenylylation signal reveal extended transcripts and new RNA polyadenylylation sites. 6 61
1374896 1992
35
Molecular characterization of beta-thalassemia in Czechoslovakia. 61 6
1740317 1992
36
The T-->A mutation at position -30 of the beta-globin gene found in a Karachai patient with beta-thalassemia intermedia. 61 6
1487424 1992
37
A novel beta-globin structural mutant, Hb Brescia (beta 114 Leu-Pro), causing a severe beta-thalassemia intermedia phenotype. 6 61
1301199 1992
38
The -87 (C----A) beta(+)-thalassemia mutation in a black family. 6 61
1428943 1992
39
Thalassemia intermedia: moderate reduction of beta globin gene transcriptional activity by a novel mutation of the proximal CACCC promoter element. 61 6
2018842 1991
40
Hemoglobin Terre Haute arginine beta 106. A posthumous correction to the original structure of hemoglobin Indianapolis. 6 61
2005117 1991
41
Evolution of a genetic disease in an ethnic isolate: beta-thalassemia in the Jews of Kurdistan. 61 6
1986379 1991
42
Beta-thalassemia, HB S-beta-thalassemia and sickle cell anemia among Tunisians. 61 6
1917531 1991
43
A new mutation at IVS1 nt 2(T----A), in beta-thalassemia from Algeria. 61 6
2393712 1990
44
Molecular basis for dominantly inherited inclusion body beta-thalassemia. 61 6
1971109 1990
45
Bone marrow transplantation in patients with thalassemia. 61 56
2300104 1990
46
Identification of the multiple beta-thalassemia mutations by denaturing gradient gel electrophoresis. 61 6
2298920 1990
47
Beta-thalassemia in Turkey. 61 6
2200760 1990
48
A novel frameshift mutation [FSC 47 (+A)] causing beta-thalassemia in a Surinam patient. 6 61
2283303 1990
49
Beta-thalassemia genes in French-Canadians: haplotype and mutation analysis of Portneuf chromosomes. 6 61
1967205 1990
50
A new TATA box mutation detected at prenatal diagnosis for beta-thalassemia. 56 61
2741940 1989
Sources

Variations for Beta-Thalassemia

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ClinVar genetic disease variations for Beta-Thalassemia:

6 (show top 50) (show all 349) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HBB NM_000518.5(HBB):c.17del (p.Pro6fs)deletion other 15592 rs63750729 11:5248235-5248235 11:5227005-5227005
2 HBB NM_000518.5(HBB):c.385_388delinsCCACA (p.Ala129fs)indel Pathogenic 15609 rs63750860 11:5246884-5246887 11:5225654-5225657
3 HBB NM_000518.5(HBB):c.*110T>ASNV Pathogenic 15616 11:5246718-5246718 11:5225488-5225488
4 HBB NM_000518.5(HBB):c.316-2A>CSNV Pathogenic 21190 rs33914668 11:5246958-5246958 11:5225728-5225728
5 HBB NM_000518.5(HBB):c.316-2A>GSNV Pathogenic 21191 rs33914668 11:5246958-5246958 11:5225728-5225728
6 HBB NM_000518.5(HBB):c.315+4_315+5deldeletion Pathogenic 15515 rs34750035 11:5247802-5247803 11:5226572-5226573
7 HBB NM_000518.5(HBB):c.3G>A (p.Met1Ile)SNV Pathogenic 15519 rs33930702 11:5248249-5248249 11:5227019-5227019
8 HBB NM_000518.4(HBB):c.383A>G (p.Gln128Arg)SNV Pathogenic 15537 rs33910569 11:5246889-5246889 11:5225659-5225659
9 HBB NM_000518.5(HBB):c.217_221delinsT (p.Ser73fs)indel Pathogenic 15560 rs63751218 11:5247901-5247905 11:5226671-5226675
10 HBB NM_000518.5(HBB):c.93-2A>GSNV Pathogenic 15562 rs63750513 11:5248031-5248031 11:5226801-5226801
11 HBB NM_000518.5(HBB):c.79_80insT (p.Glu27fs)insertion Pathogenic 15563 rs35477349 11:5248172-5248173 11:5226942-5226943
12 HBB HBB, -101C-G, PROMOTERSNV Pathogenic 15586
13 HBB NM_000518.5(HBB):c.143dup (p.Asp48fs)duplication Pathogenic 15485 rs35894115 11:5247978-5247979 11:5226748-5226749
14 HBB NM_000518.4(HBB):c.320T>G (p.Leu107Arg)SNV Pathogenic 15487 rs33941844 11:5246952-5246952 11:5225722-5225722
15 HBB NM_000518.5(HBB):c.*111A>GSNV Pathogenic 15488 rs63751128 11:5246717-5246717 11:5225487-5225487
16 HBB NM_000518.5(HBB):c.-82C>ASNV Pathogenic 15492 rs34500389 11:5248333-5248333 11:5227103-5227103
17 HBB NM_000518.5(HBB):c.271G>T (p.Glu91Ter)SNV Pathogenic 15504 rs33913712 11:5247851-5247851 11:5226621-5226621
18 HBB NM_000518.5(HBB):c.*110_*114deldeletion Pathogenic 15506 rs35949130 11:5246714-5246718 11:5225484-5225488
19 HBB NM_000518.5(HBB):c.4del (p.Val2fs)deletion Pathogenic 15508 rs63750475 11:5248248-5248248 11:5227018-5227018
20 HBB NM_000518.5(HBB):c.316-1G>CSNV Pathogenic 15512 rs33952266 11:5246957-5246957 11:5225727-5225727
21 HBB NM_000518.5(HBB):c.344T>C (p.Leu115Pro)SNV Pathogenic 15513 rs36015961 11:5246928-5246928 11:5225698-5225698
22 HBB NM_000518.5(HBB):c.-136C>GSNV Pathogenic 15465 rs33994806 11:5248387-5248387 11:5227157-5227157
23 HBB NM_000518.5(HBB):c.-81A>GSNV Pathogenic 15466 rs33981098 11:5248332-5248332 11:5227102-5227102
24 HBB NM_000518.5(HBB):c.-137C>TSNV Pathogenic 36287 rs33941377 11:5248388-5248388 11:5227158-5227158
25 HBB NM_000518.5(HBB):c.315+1G>ASNV Pathogenic 15438 rs33945777 11:5247806-5247806 11:5226576-5226576
26 HBB NM_000518.5(HBB):c.93-17_93-1deldeletion Pathogenic 15441 rs63750915 11:5248030-5248046 11:5226800-5226816
27 HBB NM_000518.5(HBB):c.93-22_95deldeletion Pathogenic 15442 rs193922563 11:5248027-5248051 11:5226797-5226821
28 HBB NM_000518.5(HBB):c.76_92+27deldeletion Pathogenic 15445 rs63751076 11:5248133-5248176 11:5226903-5226946
29 HBB NM_000518.5(HBB):c.93-1G>ASNV Pathogenic 15446 rs33943001 11:5248030-5248030 11:5226800-5226800
30 HBB NM_000518.5(HBB):c.92+5G>CSNV Pathogenic 15447 rs33915217 11:5248155-5248155 11:5226925-5226925
31 HBB NM_000518.5(HBB):c.92+5G>TSNV Pathogenic 15448 rs33915217 11:5248155-5248155 11:5226925-5226925
32 HBB NM_000518.5(HBB):c.316-3C>ASNV Pathogenic 15451 rs33913413 11:5246959-5246959 11:5225729-5225729
33 HBB HBB, IVS1, T-G, -3SNV Pathogenic 15452
34 HBB NM_000518.5(HBB):c.316-8T>GSNV Pathogenic 15453 rs34793594 11:5246964-5246964 11:5225734-5225734
35 HBB NM_000518.5(HBB):c.93-21G>ASNV Pathogenic 15454 rs35004220 11:5248050-5248050 11:5226820-5226820
36 HBB HBB, IVS2, T-G, +705SNV Pathogenic 15456
37 HBB NM_000518.5(HBB):c.316-106C>GSNV Pathogenic 15457 rs34690599 11:5247062-5247062 11:5225832-5225832
38 HBB NM_000518.5(HBB):c.316-197C>TSNV Pathogenic 15458 rs34451549 11:5247153-5247153 11:5225923-5225923
39 HBB NM_000518.5(HBB):c.216dup (p.Ser73Ter)duplication Pathogenic 15433 rs33969853 11:5247905-5247906 11:5226675-5226676
40 HBB NM_000518.5(HBB):c.2T>G (p.Met1Arg)SNV Pathogenic 15434 rs33941849 11:5248250-5248250 11:5227020-5227020
41 HBB NM_000518.5(HBB):c.92+1G>ASNV Pathogenic 15436 rs33971440 11:5248159-5248159 11:5226929-5226929
42 HBB NM_000518.5(HBB):c.-151C>TSNV Pathogenic 15461 rs63751208 11:5248402-5248402 11:5227172-5227172
43 HBB HBB, -88C-ASNV Pathogenic 15463
44 HBB HBB, -30T-C, PROMOTERSNV Pathogenic 15468
45 HBB NM_000518.5(HBB):c.-79A>GSNV Pathogenic 15469 rs34598529 11:5248330-5248330 11:5227100-5227100
46 HBB NM_000518.5(HBB):c.-78A>CSNV Pathogenic 15470 rs33931746 11:5248329-5248329 11:5227099-5227099
47 HBB HBB, 3-UNT, A DEL, +4deletion Pathogenic 15474
48 HBB HBB, 3-UNT, G INS, +4insertion Pathogenic 15475
49 HBB NM_000518.5(HBB):c.*112A>GSNV Pathogenic 15476 rs63750954 11:5246716-5246716 11:5225486-5225486
50 HBB HBB, CAP, A-CSNV Pathogenic 15477

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

73
# 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

Sources

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+ 65
Show member pathways
 12.94 TF HBG2 HBG1 HBE1 HBD HBB
2
Glucose / Energy Metabolism 4
12.2 UGT1A1 HBG1 HBB G6PD
3
HIF-1 signaling pathway 36
11.58 TFRC TF EPO
4
Factors involved in megakaryocyte development and platelet production 65
11.3 HBG2 HBG1 HBE1 HBD HBB GATA1
5
HIF-1-alpha transcription factor network 1
11.25 TFRC TF EPO
6
Hematopoietic Stem Cell Differentiation 1
11.01 KLF1 GATA1 EPO
7
Iron metabolism in placenta 1
10.21 TFRC TFR2 TF
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 TFRC TF HBG2 HBE1 HBD HBB
2 recycling endosome GO:0055037 9.58 TFRC TF HFE
3 HFE-transferrin receptor complex GO:1990712 9.56 TFRC TFR2 TF HFE
4 haptoglobin-hemoglobin complex GO:0031838 9.43 HBG2 HBG1 HBE1 HBD HBB HBA2
5 endocytic vesicle lumen GO:0071682 9.37 HBB HBA2
6 basal part of cell GO:0045178 9.32 TF HFE
7 hemoglobin complex GO:0005833 9.17 HBG2 HBG1 HBE1 HBD HBB HBA2

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 receptor-mediated endocytosis GO:0006898 9.83 TFRC TFR2 HBB HBA2
2 cellular iron ion homeostasis GO:0006879 9.76 TFRC TFR2 TF HFE
3 response to organic cyclic compound GO:0014070 9.75 UGT1A1 HBE1 G6PD
4 erythrocyte differentiation GO:0030218 9.73 KLF1 GATA1 EPO AHSP
5 blood coagulation GO:0007596 9.73 HBG2 HBG1 HBE1 HBD HBB GATA1
6 iron ion homeostasis GO:0055072 9.69 TFR2 TF HFE
7 acute-phase response GO:0006953 9.67 UGT1A1 TFR2 HFE EPO
8 iron ion transport GO:0006826 9.65 TFRC TFR2 TF
9 cellular oxidant detoxification GO:0098869 9.63 HBG2 HBG1 HBE1 HBD HBB HBA2
10 transferrin transport GO:0033572 9.62 TFRC TFR2 TF HFE
11 positive regulation of receptor-mediated endocytosis GO:0048260 9.58 TF HFE
12 cellular response to iron ion GO:0071281 9.58 TFR2 TF HFE
13 positive regulation of bone resorption GO:0045780 9.57 TFRC TF
14 response to iron ion GO:0010039 9.56 TFR2 HFE
15 erythrocyte maturation GO:0043249 9.55 G6PD EPO
16 positive regulation of peptide hormone secretion GO:0090277 9.54 TFR2 HFE
17 regulation of iron ion transport GO:0034756 9.49 TF HFE
18 hydrogen peroxide catabolic process GO:0042744 9.43 HBG2 HBG1 HBE1 HBD HBB HBA2
19 oxygen transport GO:0015671 9.1 HBG2 HBG1 HBE1 HBD HBB HBA2

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 9.88 HBG2 HBG1 HBE1 HBD HBB HBA2
2 peroxidase activity GO:0004601 9.85 HBG2 HBG1 HBE1 HBD HBB HBA2
3 oxygen binding GO:0019825 9.8 HBG2 HBG1 HBE1 HBD HBB HBA2
4 hemoglobin alpha binding GO:0031721 9.65 HBG2 HBG1 HBE1 HBD HBB
5 oxygen carrier activity GO:0005344 9.63 HBG2 HBG1 HBE1 HBD HBB HBA2
6 co-receptor binding GO:0039706 9.49 TFR2 HFE
7 transferrin receptor binding GO:1990459 9.48 TF HFE
8 hemoglobin binding GO:0030492 9.46 HBB AHSP
9 transferrin receptor activity GO:0004998 9.43 TFRC TFR2
10 organic acid binding GO:0043177 9.43 HBG2 HBG1 HBE1 HBD HBB HBA2
11 haptoglobin binding GO:0031720 9.1 HBG2 HBG1 HBE1 HBD HBB HBA2
Sources

Sources for Beta-Thalassemia

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 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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