B-THAL
MCID: BTT014
MIFTS: 73

Beta-Thalassemia (B-THAL)

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

Aliases & Classifications for Beta-Thalassemia

MalaCards integrated aliases for Beta-Thalassemia:

Name: Beta-Thalassemia 57 75 24 53 59 74 55 44 38
Beta Thalassemia 12 25 74 29 6 15 72
Mediterranean Anemia 24 53 25 59 74
Cooley's Anemia 24 53 74 3 72
Beta Thalassemia Intermedia 53 29 6 72
Thalassemia, Hispanic Gamma-Delta-Beta 57 53 13
Beta Thalassemia Major 53 29 6
Erythroblastic Anemia 53 25 74
Beta Thalassemia Minor 53 29
Thalassemia, Beta 57 40
Thalassemia Major 74 55
Thalassemia Minor 74 72
Beta-Thalassemia Intermedia 59
Microcytemia, Beta Type 25
Thalassemia, Beta Type 25
Beta-Thalassemia Major 59
Beta-Plus-Thalassemia 6
Thalassemias, Beta- 53
Beta^+^ Thalassemia 72
Cooley Anemia 59
B-Thal 74

Characteristics:

Orphanet epidemiological data:

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

Classifications:



External Ids:

Disease Ontology 12 DOID:12241
OMIM 57 613985
ICD9CM 35 282.44
MeSH 44 D017086
NCIt 50 C34375
SNOMED-CT 68 65959000
ICD10 33 D56.1
MESH via Orphanet 45 D017086
ICD10 via Orphanet 34 D56.1
UMLS via Orphanet 73 C0002875 C0005283 C0472767
UMLS 72 C0002875 C0005283 C0085578 more

Summaries for Beta-Thalassemia

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

MalaCards based summary : Beta-Thalassemia, also known as beta thalassemia, is related to hemoglobin lepore-beta-thalassemia syndrome and fetal hemoglobin quantitative trait locus 1. An important gene associated with Beta-Thalassemia is HBB (Hemoglobin Subunit Beta), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and 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 pallor

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

CDC : 3 Thalassemia is an inherited (i.e., passed from parents to children through genes) blood disorder caused when the body doesn't make enough of a protein called hemoglobin, an important part of red blood cells. 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 : 74 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 : 75 Beta thalassemias (? thalassemias) are a group of inherited blood disorders. They are forms of... more...

GeneReviews: NBK1426

Related Diseases for Beta-Thalassemia

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 640)
# Related Disease Score Top Affiliating Genes
1 hemoglobin lepore-beta-thalassemia syndrome 35.0 HBD HBB
2 fetal hemoglobin quantitative trait locus 1 34.7 HBG2 HBG1 HBD HBB
3 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome 34.2 KLF1 HBG2 HBG1 HBB
4 hemoglobin e disease 31.9 HBS1L HBE1 HBD HBB
5 splenomegaly 31.7 HBA2 EPO CHIT1
6 hemoglobin d disease 31.5 HBD HBB
7 hemosiderosis 31.4 TFRC TF HFE EPO
8 hemoglobin zurich 31.3 HBB HBA2
9 hypochromic microcytic anemia 31.2 TF HBB HBA2
10 methemoglobinemia, beta-globin type 31.1 HBB HBA2
11 hemolytic anemia 31.1 HBG2 HBB HBA2 G6PD EPO
12 heinz body anemias 31.1 HBB HBA2
13 hemoglobin c disease 30.9 HBE1 HBD HBB
14 siderosis 30.8 TFRC TF HFE HBB
15 microcytic anemia 30.7 TFRC TF HBA2 EPO
16 iron metabolism disease 30.6 TFRC TFR2 TF HFE EPO
17 hemochromatosis, type 1 30.5 TFRC TFR2 TF HFE
18 erythroleukemia, familial 30.5 KLF1 HBG1 HBB GATA1 EPO
19 glucosephosphate dehydrogenase deficiency 30.5 UGT1A1 HBG2 HBB G6PD
20 neonatal anemia 30.4 KLF1 HBG1 HBA2 EPO
21 iron deficiency anemia 30.4 TFRC TFR2 TF HFE EPO
22 hemochromatosis, type 3 30.4 TFR2 HFE
23 porphyria 30.3 TF HFE GATA1
24 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome 30.3 KLF1 HBG2 HBG1 HBB BCL11A
25 methemoglobinemia 30.2 HBG2 HBB G6PD
26 sickle cell disease 30.1 HBS1L HBG2 HBG1 HBD HBB HBA2
27 sea-blue histiocyte disease 30.1 HBE1 HBB
28 porphyria cutanea tarda 30.1 TFRC TF HFE
29 plasmodium falciparum malaria 29.9 HBB G6PD CHIT1
30 sickle cell anemia 29.8 UGT1A1 HBS1L HBG2 HBG1 HBB HBA2
31 thalassemia 29.8 UGT1A1 TFRC TF HFE HBS1L HBG1
32 myelodysplastic syndrome 29.5 TFRC TF HFE GATA1 EPO
33 aceruloplasminemia 29.4 TFR2 TF HFE
34 alpha-thalassemia 29.1 UGT1A1 TFRC KLF1 HBG2 HBG1 HBE1
35 hemoglobinopathy 29.1 UGT1A1 TF KLF1 HFE HBG1 HBE1
36 hereditary spherocytosis 28.6 UGT1A1 TFRC KLF1 HFE HBG1 HBE1
37 deficiency anemia 28.6 TFRC TFR2 TF HFE HBG2 HBB
38 malaria 28.4 TFRC TF HBB HBA2 G6PD EPO
39 hemoglobin h disease 28.3 TFRC TF HBG2 HBE1 HBD HBB
40 congenital hemolytic anemia 27.6 TF KLF1 HBG1 HBE1 HBD HBB
41 sickle beta thalassemia 13.1
42 beta-thalassemia, dominant inclusion body type 13.0
43 thrombocytopenia with beta-thalassemia, x-linked 12.9
44 hemoglobin e-beta-thalassemia syndrome 12.8
45 hemoglobin c-beta-thalassemia syndrome 12.7
46 sickle delta beta thalassemia 12.6
47 beta-thalassemia associated with another hemoglobin anomaly 12.5
48 beta-thalassemia and related diseases 12.5
49 beta-thalassemia with other manifestations 12.5
50 fetal hemoglobin quantitative trait locus 5 11.7

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



Diseases related to Beta-Thalassemia

Symptoms & Phenotypes for Beta-Thalassemia

Human phenotypes related to Beta-Thalassemia:

59 32 (show top 50) (show all 62)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001744
2 pallor 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000980
3 abnormality of the skeletal system 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000924
4 microcytic anemia 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0001935
5 abnormal hemoglobin 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0011902
6 hypersplenism 59 32 hallmark (90%) Very frequent (99-80%) HP:0001971
7 genu valgum 59 32 frequent (33%) Frequent (79-30%) HP:0002857
8 depressivity 59 32 frequent (33%) Frequent (79-30%) HP:0000716
9 muscle weakness 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001324
10 respiratory insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0002093
11 hepatomegaly 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%),Frequent (79-30%) HP:0002240
12 depressed nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0005280
13 abnormality of the dentition 59 32 frequent (33%) Frequent (79-30%) HP:0000164
14 malabsorption 59 32 frequent (33%) Frequent (79-30%) HP:0002024
15 delayed puberty 59 32 frequent (33%) Frequent (79-30%) HP:0000823
16 fever 59 32 frequent (33%) Frequent (79-30%) HP:0001945
17 osteoporosis 59 32 frequent (33%) Frequent (79-30%) HP:0000939
18 dyspnea 59 32 frequent (33%) Frequent (79-30%) HP:0002094
19 feeding difficulties 59 32 frequent (33%) Frequent (79-30%) HP:0011968
20 irritability 59 32 frequent (33%) Frequent (79-30%) HP:0000737
21 reduced bone mineral density 59 32 frequent (33%) Frequent (79-30%) HP:0004349
22 anxiety 59 32 frequent (33%) Frequent (79-30%) HP:0000739
23 hypogonadotrophic hypogonadism 59 32 frequent (33%) Frequent (79-30%) HP:0000044
24 cholelithiasis 59 32 frequent (33%) Occasional (29-5%),Frequent (79-30%),Frequent (79-30%) HP:0001081
25 abnormality of temperature regulation 59 32 frequent (33%) Frequent (79-30%) HP:0004370
26 abnormality of iron homeostasis 59 32 frequent (33%) Frequent (79-30%) HP:0011031
27 jaundice 59 32 frequent (33%) Frequent (79-30%) HP:0000952
28 paresthesia 59 32 frequent (33%) Frequent (79-30%) HP:0003401
29 upslanted palpebral fissure 59 32 frequent (33%) Frequent (79-30%) HP:0000582
30 increased serum ferritin 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0003281
31 malar prominence 59 32 frequent (33%) Frequent (79-30%) HP:0010620
32 abnormal skull morphology 32 frequent (33%) HP:0000929
33 diabetes mellitus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000819
34 hypothyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000821
35 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
36 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
37 skeletal dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002652
38 visual impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000505
39 arthralgia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002829
40 hypertrophic cardiomyopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001639
41 arrhythmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0011675
42 hepatitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0012115
43 pulmonary arterial hypertension 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0002092
44 skin ulcer 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%),Occasional (29-5%) HP:0200042
45 abnormality of the thorax 59 32 occasional (7.5%) Occasional (29-5%) HP:0000765
46 cirrhosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001394
47 elevated hepatic transaminase 59 32 occasional (7.5%) Occasional (29-5%) HP:0002910
48 cardiomyopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001638
49 thrombocytopenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001873
50 venous thrombosis 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%),Occasional (29-5%) HP:0004936

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.32 BCL11A EPO G6PD GATA1 HBS1L HFE

Drugs & Therapeutics for Beta-Thalassemia

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

(show top 50) (show all 218)
# 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
Zinc sulfate Approved, Investigational Phase 4 7733-02-0
8
Sofosbuvir Approved Phase 4 1190307-88-0 45375808
9
Ledipasvir Approved Phase 4 1256388-51-8 67505836
10
Velpatasvir Approved, Investigational Phase 4 1377049-84-7 67683363
11
Metformin Approved Phase 4 657-24-9 4091 14219
12
Methotrexate Approved Phase 4 1959-05-2, 59-05-2 126941
13
leucovorin Approved Phase 4 58-05-9 143 6006
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 Interferon-alpha Phase 4
18 interferons Phase 4
19 Heptavalent Pneumococcal Conjugate Vaccine Phase 4
20 Micronutrients Phase 4
21 Nutrients Phase 4
22 Trace Elements Phase 4
23 Siderophores Phase 4
24 Astringents Phase 4
25 Ledipasvir, sofosbuvir drug combination Phase 4
26 Sofosbuvir-velpatasvir drug combination Phase 4
27 Vasodilator Agents Phase 4
28 Nucleic Acid Synthesis Inhibitors Phase 4
29 Hypoglycemic Agents Phase 4
30 Folic Acid Antagonists Phase 4
31 Vitamin B9 Phase 4
32 Folate Phase 4
33 Vitamin B Complex Phase 4
34 Sildenafil Citrate Phase 4 171599-83-0
35 Phosphodiesterase Inhibitors Phase 4
36 Phosphodiesterase 5 Inhibitors Phase 4
37 arginine Phase 4
38 Thymoglobulin Phase 4
39 Antilymphocyte Serum Phase 4
40
Amlodipine Approved Phase 2, Phase 3 88150-42-9 2162
41
Deferiprone Approved Phase 2, Phase 3 30652-11-0 2972
42
Metoprolol Approved, Investigational Phase 2, Phase 3 37350-58-6, 51384-51-1 4171
43
Zoledronic Acid Approved Phase 3 118072-93-8 68740
44
Denosumab Approved Phase 3 615258-40-7
45
Sevoflurane Approved, Vet_approved Phase 2, Phase 3 28523-86-6 5206
46
Propofol Approved, Investigational, Vet_approved Phase 2, Phase 3 2078-54-8 4943
47
Rocuronium Approved Phase 2, Phase 3 119302-91-9, 143558-00-3 441290
48
Bosentan Approved, Investigational Phase 3 147536-97-8 104865
49
Vitamin C Approved, Nutraceutical Phase 2, Phase 3 50-81-7 54670067 5785
50 Epoetin alfa Phase 2, Phase 3 113427-24-0

Interventional clinical trials:

(show top 50) (show all 224)
# 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 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
7 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
8 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
9 Evaluating the Efficacy of Deferasirox in Transfusion Dependent Chronic Anaemias (Myelodysplastic Syndrome, Beta-thalassaemia Patients) With Chronic Iron Overload Completed NCT00564941 Phase 4 deferasirox
10 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)
11 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)
12 Pneumococcal Vaccination for Splenectomised Thalassemia Major Patients in Indonesia Completed NCT03095326 Phase 4 Sucrose
13 Zinc Supplementation on Cellular Immunity in Thalassemia Major Completed NCT03117192 Phase 4 Zinc Sulfate;Sucrose Syrup
14 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]
15 Pilot Pharmacokinetic Study In Patients With Inadequate Response To Deferasirox (Exjade) Completed NCT00749515 Phase 4 Deferoxamine;Deferasirox
16 Sofosbuvir/Ledipasvir for Hepatitis C Genotype 1-6 in Patients With Transfusion-Dependent Thalassemia: An Open Label Trial Completed NCT03032666 Phase 4 sofosbuvir/velpatasvir
17 Safety and Efficacy of Early-start Deferiprone Treatment in Infants and Young Children Newly Diagnosed With Transfusion-dependent Beta Thalassemia Recruiting NCT03591575 Phase 4 Deferiprone oral solution;Placebo
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 Investigation of Signal Pathway Induced by Colla Corri Asini Regulating Globin Level in Beta Thalassemia Patients With Pregnancy Anemia Recruiting NCT03392298 Phase 4 Colla corii asini
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 The Effect of Metoprolol Succinate on the Cardiac Function of Patients With Thalassemia Cardiomyopathy a Double Blind Randomized Study Completed NCT01863173 Phase 2, Phase 3 metoprolol;placebo
39 An Extension Study of Iron Chelation Therapy With Deferasirox (ICL670)in β-thalassemia Patients With Transfusional Iron Overload Completed NCT00171210 Phase 3 Deferasirox
40 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
41 Denosumab Versus Zoledronic Acid for Patients With Beta-Thalassemia Major-Induced Osteoporosis Recruiting NCT03040765 Phase 3 Denosumab 60 MG/ML Prefilled Syringe;Zoledronic Acid 5Mg/Bag 100Ml Inj
42 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 Recruiting NCT02906202 Phase 3
43 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
44 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
45 Efficacy and Safety Study of Sugammadex in Children 0-2 Years Old Not yet recruiting NCT03728543 Phase 2, Phase 3 Sugammadex
46 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
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 An Iron Balance Study Comparing Deferasirox, Deferoxamine and the Combination of Both Drugs Unknown status NCT00738413 Phase 1, Phase 2 Deferoxamine;Deferasirox
49 Ferrochelating Treatment in Patients Affected by "Neurodegeneration With Brain Iron Accumulation" (NBIA) Unknown status NCT00907283 Phase 2 Deferiprone
50 A Multi-National, Blinded, Placebo-Controlled, Dose Escalation Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of HQK-1001 in Subjects With Beta Thalassemia Intermedia, Including Hemoglobin E Beta Thalassemia Completed NCT00790127 Phase 1, Phase 2 HQK-1001;Placebo

Search NIH Clinical Center for Beta-Thalassemia

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Sodium phenylbutyrate

Cochrane evidence based reviews: beta-thalassemia

Genetic Tests for Beta-Thalassemia

Genetic tests related to Beta-Thalassemia:

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

Anatomical Context for Beta-Thalassemia

MalaCards organs/tissues related to Beta-Thalassemia:

41
Bone, Bone Marrow, Liver, Heart, Testes, Spleen, Skin

Publications for Beta-Thalassemia

Articles related to Beta-Thalassemia:

(show top 50) (show all 5943)
# Title Authors PMID Year
1
Interaction of malaria with a common form of severe thalassemia in an Asian population. 38 8 71
19841268 2009
2
The inherited diseases of hemoglobin are an emerging global health burden. 8 71
20233970 2010
3
Global epidemiology of haemoglobin disorders and derived service indicators. 8 71
18568278 2008
4
Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia. 38 4 8
18245381 2008
5
Transfusion independence and HMGA2 activation after gene therapy of human β-thalassaemia. 4 8
20844535 2010
6
Beta-thalassemia. 9 38 8
20098328 2010
7
A novel silent beta-thalassemia mutation in the distal CACCC box affects the binding and responsiveness to EKLF. 9 38 71
15352994 2004
8
Molecular characterization of beta-thalassemia intermedia in patients of Italian descent and identification of three novel beta-thalassemia mutations. 9 38 71
2001456 1991
9
A novel frameshift mutation at codon 66 (HBB:c.del201A) in the β-globin gene leads to beta-thalassemia. 38 71
20532507 2011
10
Association of α globin gene quadruplication and heterozygous β thalassemia in patients with thalassemia intermedia. 9 38 4
19794088 2009
11
Hematopoietic stem cell gene transfer for the treatment of hemoglobin disorders. 9 38 4
20008255 2009
12
Hematological and molecular analysis of novel and rare beta-thalassemia mutations in the Indian population. 38 71
19205975 2009
13
Hb Showa-Yakushiji [beta110(G12)Leu-->Pro] in four unrelated patients from west Bengal. 38 71
15768552 2005
14
Genetic heterogeneity of Beta thalassemia in Lebanon reflects historic and recent population migration. 38 8
15638828 2005
15
Molecular spectrum of beta-thalassemia in the Mexican population. 38 71
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. 38 71
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. 38 71
15481893 2004
18
A frameshift at codons 77/78 (-C): a novel beta-thalassemia mutation. 38 71
15481896 2004
19
MS analysis of single-nucleotide differences in circulating nucleic acids: Application to noninvasive prenatal diagnosis. 38 8
15247415 2004
20
Bone histomorphometry in children and adolescents with beta-thalassemia disease: iron-associated focal osteomalacia. 38 8
12915694 2003
21
The global distribution of length polymorphisms of the promoters of the glucuronosyltransferase 1 gene (UGT1A1): hematologic and evolutionary implications. 38 71
12850492 2003
22
Hemoglobin E: a balanced polymorphism protective against high parasitemias and thus severe P falciparum malaria. 38 71
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. 9 38 4
11809723 2002
24
A Korean family with a dominantly inherited beta-thalassemia due to Hb Durham-N.C./Brescia. 38 71
11300352 2001
25
Beta-Thalassemia 38 71
20301599 2000
26
Genetic modifying factors in beta-thalassemia. 38 8
10834399 2000
27
A significant beta-thalassemia heterogeneity in the United Arab Emirates. 38 71
9140720 1997
28
Interaction of hemoglobin E and pyrimidine 5' nucleotidase deficiency. 38 71
8839873 1996
29
Beta-thalassaemia in indigenous Belgian families: identification of a novel mutation. 38 71
8682512 1996
30
Mild beta+(-87)-thalassemia CACCC box mutation is associated with elevated fetal hemoglobin expression in cis. 38 71
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. 38 71
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. 38 71
1384315 1992
33
Dominant thalassemia-like phenotypes associated with mutations in exon 3 of the beta-globin gene. 38 71
1586746 1992
34
Two mutations in the beta-globin polyadenylylation signal reveal extended transcripts and new RNA polyadenylylation sites. 38 71
1374896 1992
35
Molecular characterization of beta-thalassemia in Czechoslovakia. 38 71
1740317 1992
36
A novel beta-globin structural mutant, Hb Brescia (beta 114 Leu-Pro), causing a severe beta-thalassemia intermedia phenotype. 38 71
1301199 1992
37
The -87 (C----A) beta(+)-thalassemia mutation in a black family. 38 71
1428943 1992
38
The T-->A mutation at position -30 of the beta-globin gene found in a Karachai patient with beta-thalassemia intermedia. 38 71
1487424 1992
39
Thalassemia intermedia: moderate reduction of beta globin gene transcriptional activity by a novel mutation of the proximal CACCC promoter element. 38 71
2018842 1991
40
Hemoglobin Terre Haute arginine beta 106. A posthumous correction to the original structure of hemoglobin Indianapolis. 38 71
2005117 1991
41
Evolution of a genetic disease in an ethnic isolate: beta-thalassemia in the Jews of Kurdistan. 38 71
1986379 1991
42
Beta-thalassemia, HB S-beta-thalassemia and sickle cell anemia among Tunisians. 38 71
1917531 1991
43
A new mutation at IVS1 nt 2(T----A), in beta-thalassemia from Algeria. 38 71
2393712 1990
44
Molecular basis for dominantly inherited inclusion body beta-thalassemia. 38 71
1971109 1990
45
Bone marrow transplantation in patients with thalassemia. 38 8
2300104 1990
46
Identification of the multiple beta-thalassemia mutations by denaturing gradient gel electrophoresis. 38 71
2298920 1990
47
A novel frameshift mutation [FSC 47 (+A)] causing beta-thalassemia in a Surinam patient. 38 71
2283303 1990
48
Beta-thalassemia in Turkey. 38 71
2200760 1990
49
Beta-thalassemia genes in French-Canadians: haplotype and mutation analysis of Portneuf chromosomes. 38 71
1967205 1990
50
A new TATA box mutation detected at prenatal diagnosis for beta-thalassemia. 38 8
2741940 1989

Variations for Beta-Thalassemia

ClinVar genetic disease variations for Beta-Thalassemia:

6 (show top 50) (show all 157)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 HBB NM_000518.5(HBB): c.-18C> G single nucleotide variant Pathogenic rs34135787 11:5248269-5248269 11:5227039-5227039
2 HBB NM_000518.5(HBB): c.-29G> A single nucleotide variant Pathogenic rs34704828 11:5248280-5248280 11:5227050-5227050
3 HBB NM_000518.5(HBB): c.-41del deletion Pathogenic rs35352549 11:5248292-5248292 11:5227062-5227062
4 HBB NM_000518.4: c.91+6T> C single nucleotide variant Pathogenic
5 HBB c.17delA undetermined variant Pathogenic
6 HBB NM_000518.5(HBB): c.323dup (p.Asn109fs) duplication Pathogenic rs35225141 11:5246949-5246949 11:5225719-5225719
7 HBB NM_000518.5(HBB): c.371_378del (p.Thr124fs) deletion Pathogenic rs1554917561 11:5246894-5246901 11:5225664-5225671
8 HBB NM_000518.5(HBB): c.316-1G> A single nucleotide variant Pathogenic rs33952266 11:5246957-5246957 11:5225727-5225727
9 HBB NM_000518.5(HBB): c.*6C> G single nucleotide variant Pathogenic rs34809925 11:5246822-5246822 11:5225592-5225592
10 HBB NM_000518.4(HBB): c.364G> A (p.Glu122Lys) single nucleotide variant Pathogenic rs33946267 11:5246908-5246908 11:5225678-5225678
11 HBB NM_000518.4(HBB): c.19G> A (p.Glu7Lys) single nucleotide variant Pathogenic rs33930165 11:5248233-5248233 11:5227003-5227003
12 HBB HBB, 2-BP INS, 25TA insertion Pathogenic
13 HBB HBB, 1-BP DEL, C deletion Pathogenic
14 HBB NM_000518.5(HBB): c.79G> A (p.Glu27Lys) single nucleotide variant Pathogenic rs33950507 11:5248173-5248173 11:5226943-5226943
15 HBB NM_000518.5(HBB): c.20A> T (p.Glu7Val) single nucleotide variant Pathogenic rs334 11:5248232-5248232 11:5227002-5227002
16 HBB NM_000518.5(HBB): c.52A> T (p.Lys18Ter) single nucleotide variant Pathogenic rs33986703 11:5248200-5248200 11:5226970-5226970
17 HBB NM_000518.5(HBB): c.118C> T (p.Gln40Ter) single nucleotide variant Pathogenic rs11549407 11:5248004-5248004 11:5226774-5226774
18 HBB NM_000518.5(HBB): c.47G> A (p.Trp16Ter) single nucleotide variant Pathogenic rs63750783 11:5248205-5248205 11:5226975-5226975
19 HBB NM_000518.5(HBB): c.130G> T (p.Glu44Ter) single nucleotide variant Pathogenic rs33922842 11:5247992-5247992 11:5226762-5226762
20 HBB NM_000518.5(HBB): c.383_385del (p.Gln128_Ala129delinsPro) deletion Pathogenic rs34502690 11:5246887-5246889 11:5225657-5225659
21 HBB NM_000518.4(HBB): c.182T> A (p.Val61Glu) single nucleotide variant Pathogenic rs33931779 11:5247940-5247940 11:5226710-5226710
22 HBB NM_000518.5(HBB): c.25_26del (p.Lys9fs) deletion Pathogenic rs35497102 11:5248226-5248227 11:5226996-5226997
23 HBB NM_000518.5(HBB): c.51del (p.Lys18fs) deletion Pathogenic rs35662066 11:5248201-5248201 11:5226971-5226971
24 HBB NM_000518.5(HBB): c.135del (p.Phe46fs) deletion Pathogenic rs80356820 11:5247987-5247987 11:5226757-5226757
25 HBB NM_000518.5(HBB): c.59A> G (p.Asn20Ser) single nucleotide variant Pathogenic rs33972047 11:5248193-5248193 11:5226963-5226963
26 HBB NM_000518.5(HBB): c.20del (p.Glu7fs) deletion Pathogenic rs63749819 11:5248232-5248232 11:5227002-5227002
27 HBB NM_000518.5(HBB): c.17_18del (p.Pro6fs) deletion Pathogenic rs34889882 11:5248234-5248235 11:5227004-5227005
28 HBB NM_000518.5(HBB): c.110del (p.Pro37fs) deletion Pathogenic rs267607297 11:5248014-5248014 11:5226784-5226784
29 HBB NM_000518.5(HBB): c.2T> G (p.Met1Arg) single nucleotide variant Pathogenic rs33941849 11:5248250-5248250 11:5227020-5227020
30 HBB NM_000518.5(HBB): c.92+1G> A single nucleotide variant Pathogenic rs33971440 11:5248159-5248159 11:5226929-5226929
31 HBB NM_000518.5(HBB): c.92+6T> C single nucleotide variant Pathogenic rs35724775 11:5248154-5248154 11:5226924-5226924
32 HBB NM_000518.5(HBB): c.316-3C> A single nucleotide variant Pathogenic rs33913413 11:5246959-5246959 11:5225729-5225729
33 HBB HBB, IVS1, T-G, -3 single nucleotide variant Pathogenic
34 HBB HBB, IVS1, C-A, -8 single nucleotide variant Pathogenic
35 HBB NM_000518.5(HBB): c.93-21G> A single nucleotide variant Pathogenic rs35004220 11:5248050-5248050 11:5226820-5226820
36 HBB HBB, IVS2, T-G, +705 single nucleotide variant Pathogenic
37 HBB NM_000518.4(HBB): c.332T> C (p.Leu111Pro) single nucleotide variant Pathogenic rs35256489 11:5246940-5246940 11:5225710-5225710
38 HBB NM_000518.5(HBB): c.315+1G> A single nucleotide variant Pathogenic rs33945777 11:5247806-5247806 11:5226576-5226576
39 HBB NM_000518.5(HBB): c.93-22_95del deletion Pathogenic rs193922563 11:5248027-5248051 11:5226797-5226821
40 HBB NM_000518.5(HBB): c.93-1G> A single nucleotide variant Pathogenic rs33943001 11:5248030-5248030 11:5226800-5226800
41 HBB NM_000518.5(HBB): c.92+5G> C single nucleotide variant Pathogenic rs33915217 11:5248155-5248155 11:5226925-5226925
42 HBB NM_000518.5(HBB): c.92+5G> T single nucleotide variant Pathogenic rs33915217 11:5248155-5248155 11:5226925-5226925
43 HBB NM_000518.4(HBB): c.92G> C (p.Arg31Thr) single nucleotide variant Pathogenic rs33960103 11:5248160-5248160 11:5226930-5226930
44 HBB NM_000518.5(HBB): c.316-106C> G single nucleotide variant Pathogenic rs34690599 11:5247062-5247062 11:5225832-5225832
45 HBB NM_000518.5(HBB): c.316-197C> T single nucleotide variant Pathogenic rs34451549 11:5247153-5247153 11:5225923-5225923
46 HBB NM_000518.5(HBB): c.-151C> T single nucleotide variant Pathogenic rs63751208 11:5248402-5248402 11:5227172-5227172
47 HBB HBB, -88C-A single nucleotide variant Pathogenic
48 HBB HBB, -30T-C, PROMOTER single nucleotide variant Pathogenic
49 HBB NM_000518.5(HBB): c.-79A> G single nucleotide variant Pathogenic rs34598529 11:5248330-5248330 11:5227100-5227100
50 HBB NM_000518.5(HBB): c.-78A> C single nucleotide variant Pathogenic rs33931746 11:5248329-5248329 11:5227099-5227099

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

74
# 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

Expression for Beta-Thalassemia

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

Pathways for Beta-Thalassemia

GO Terms for Beta-Thalassemia

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 18)
# Name GO ID Score Top Affiliating Genes
1 receptor-mediated endocytosis GO:0006898 9.81 TFRC TFR2 HBB HBA2
2 blood coagulation GO:0007596 9.8 HBG2 HBG1 HBE1 HBD HBB GATA1
3 cellular iron ion homeostasis GO:0006879 9.78 TFRC TFR2 TF HFE
4 erythrocyte differentiation GO:0030218 9.76 KLF1 GATA1 EPO AHSP
5 response to organic cyclic compound GO:0014070 9.75 UGT1A1 HBE1 G6PD
6 cellular oxidant detoxification GO:0098869 9.73 HBG2 HBG1 HBE1 HBD HBB HBA2
7 acute-phase response GO:0006953 9.71 UGT1A1 TFR2 HFE EPO
8 iron ion homeostasis GO:0055072 9.67 TFR2 TF HFE
9 transferrin transport GO:0033572 9.67 TFRC TFR2 TF HFE
10 cellular response to iron ion GO:0071281 9.61 TFR2 TF HFE
11 positive regulation of receptor-mediated endocytosis GO:0048260 9.57 TF HFE
12 response to iron ion GO:0010039 9.56 TFR2 HFE
13 iron ion transport GO:0006826 9.55 TFR2 TF
14 erythrocyte maturation GO:0043249 9.54 G6PD EPO
15 positive regulation of peptide hormone secretion GO:0090277 9.52 TFR2 HFE
16 hydrogen peroxide catabolic process GO:0042744 9.43 HBG2 HBG1 HBE1 HBD HBB HBA2
17 protein heterooligomerization GO:0051291 9.33 HBE1 HBB HBA2
18 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 14)
# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 9.85 HBG2 HBG1 HBE1 HBD HBB HBA2
2 oxygen binding GO:0019825 9.8 HBG2 HBG1 HBE1 HBD HBB HBA2
3 peroxidase activity GO:0004601 9.73 HBG2 HBG1 HBE1 HBD HBB HBA2
4 oxygen carrier activity GO:0005344 9.63 HBG2 HBG1 HBE1 HBD HBB HBA2
5 hemoglobin alpha binding GO:0031721 9.58 HBE1 HBD HBB
6 co-receptor binding GO:0039706 9.51 TFR2 HFE
7 transferrin receptor binding GO:1990459 9.49 TF HFE
8 hemoglobin binding GO:0030492 9.48 HBB AHSP
9 transferrin transmembrane transporter activity GO:0033570 9.46 TFRC TFR2
10 transferrin receptor activity GO:0004998 9.43 TFRC TFR2
11 organic acid binding GO:0043177 9.43 HBG2 HBG1 HBE1 HBD HBB HBA2
12 haptoglobin binding GO:0031720 9.1 HBG2 HBG1 HBE1 HBD HBB HBA2
13 protein binding GO:0005515 10.4 TFRC TFR2 TF KLF1 HFE HBS1L
14 metal ion binding GO:0046872 10.24 TF KLF1 HBG2 HBG1 HBE1 HBD

Sources for Beta-Thalassemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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