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B-THAL
MCID: BTT014
MIFTS: 72

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
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Aliases & Classifications for Beta-Thalassemia

About this section

MalaCards integrated aliases for Beta-Thalassemia:

Name: Beta-Thalassemia 57 74 25 20 58 73 54 44 37
Beta Thalassemia 12 43 73 29 6 15 71
Mediterranean Anemia 25 20 43 58 73
Beta Thalassemia Intermedia 20 29 6 71
Cooley's Anemia 25 20 73 71
Thalassemia, Hispanic Gamma-Delta-Beta 57 20 13
Beta Thalassemia Major 20 29 6
Erythroblastic Anemia 20 43 73
Beta Thalassemia Minor 20 29
Thalassemia, Beta 57 39
Thalassemia Minor 73 71
Thalassemia Major 73 54
Beta-Thalassemia Intermedia 58
Microcytemia, Beta Type 43
Beta-Thalassemia Major 58
Thalassemia, Beta Type 43
Beta-Plus-Thalassemia 6
Thalassemias, Beta- 20
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


External Ids:

Disease Ontology 12 DOID:12241
OMIM® 57 613985
MeSH 44 D017086
NCIt 50 C34375
SNOMED-CT 67 65959000
ICD10 32 D56.1
MESH via Orphanet 45 D017086
ICD10 via Orphanet 33 D56.1
UMLS via Orphanet 72 C0002875 C0005283 C0472767
UMLS 71 C0002875 C0005283 C0085578 more
Sources

Summaries for Beta-Thalassemia

About this section
GARD : 20 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 fetal hemoglobin quantitative trait locus 1 and beta-thalassemia, dominant inclusion body type. An important gene associated with Beta-Thalassemia is HBB (Hemoglobin Subunit Beta), and among its related pathways/superpathways are HIF-1 signaling pathway and HIF-1-alpha transcription factor network. The drugs Metformin and Peginterferon alfa-2a 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.

MedlinePlus Genetics : 43 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) (Updated 05-Mar-2021)

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
Autosomal Dominant 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 649)
# Related Disease Score Top Affiliating Genes
1 fetal hemoglobin quantitative trait locus 1 33.4 LOC110006319 LOC106099062 HBG2 HBG1 HBD HBB
2 beta-thalassemia, dominant inclusion body type 33.4 LOC110006319 LOC106099062 HBB
3 thrombocytopenia with beta-thalassemia, x-linked 33.3 KLF1 HBG2 HBG1 GATA1
4 beta-thalassemia major 33.2 LOC110006319 LOC106099062 HFE HBB
5 thalassemia 33.1 LOC110006319 LOC106099062 HBS1L HBG1 HBD HBB-LCR
6 beta-thalassemia intermedia 33.1 LOC110006319 LOC106099062 HBB
7 hemoglobin e-beta-thalassemia syndrome 33.1 LOC106099062 HBB
8 hemoglobin lepore-beta-thalassemia syndrome 32.8 HBD HBB
9 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome 32.6 KLF1 HBG2 HBG1 HBB
10 thalassemia minor 32.6 KLF1 HBB HBA2 GATA1 EPO
11 rare hereditary hemochromatosis 32.3 TFR2 TF HFE
12 hemosiderosis 32.2 TFR2 TF HFE EPO
13 hemoglobin e disease 31.9 LOC106099062 KLF1 HBS1L HBD HBB BCL11A
14 iron metabolism disease 31.7 TFRC TFR2 TF HFE HBB G6PD
15 sickle cell anemia 31.6 LOC110006319 LOC106099062 HBS1L HBG2 HBG1 HBB
16 siderosis 31.6 TFRC TF HFE HBB
17 sickle cell disease 31.5 TFRC LOC110006319 LOC106099062 HBS1L HBG2 HBG1
18 iron deficiency anemia 31.5 TFRC TFR2 TF HFE HBG2 G6PD
19 hypochromic microcytic anemia 31.4 TFRC TF HBB HBA2
20 hemolytic anemia 31.4 TFRC TF LOC106099062 KLF1 HBG2 HBG1
21 alpha-thalassemia 31.3 TFRC LOC110006319 LOC106099062 KLF1 HFE HBS1L
22 deficiency anemia 31.3 TFRC TFR2 TF LOC106099062 KLF1 HFE
23 hemochromatosis, type 1 31.3 TFRC TFR2 TF HFE HBS1L HBB
24 hemoglobinopathy 31.3 TFRC TFR2 TF LOC110006319 LOC106099062 KLF1
25 microcytic anemia 31.3 TFRC TFR2 TF HFE HBB HBA2
26 glucosephosphate dehydrogenase deficiency 31.1 HBG2 HBB G6PD
27 polycythemia 31.1 TFRC HBB HBA2 EPO
28 hemoglobin d disease 31.0 LOC110006319 HBD HBB
29 acute erythroid leukemia 30.9 KLF1 HBG1 HBB GATA1 EPO
30 hereditary spherocytosis 30.9 TFRC KLF1 HFE HBG2 HBG1 HBB
31 splenic sequestration 30.9 HBB EPO
32 congenital dyserythropoietic anemia 30.8 TFRC KLF1 HFE GATA1 EPO
33 heinz body anemias 30.8 LOC110006319 LOC106099062 HBB HBA2
34 neonatal anemia 30.7 KLF1 HBA2 EPO
35 hemoglobin zurich 30.7 LOC106099062 HBB HBA2
36 methemoglobinemia, beta type 30.7 LOC110006319 LOC106099062 HBB
37 hemoglobin c disease 30.7 LOC106099062 HBD HBB
38 methemoglobinemia, beta-globin type 30.7 LOC110006319 LOC106099062 HBB HBA2
39 hemoglobin h disease 30.7 TFRC TF KLF1 HBG2 HBG1 HBD
40 anemia, congenital dyserythropoietic, type ia 30.7 TFRC KLF1 GATA1 EPO
41 porphyria 30.7 TFRC TFR2 HFE GATA1 EPO
42 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome 30.7 LOC110006319 LOC106099062 KLF1 HBG2 HBG1 HBB
43 porphyria cutanea tarda 30.6 TFRC TFR2 TF HFE EPO
44 malaria 30.6 TFRC LOC110006319 LOC106099062 HBB HBA2 G6PD
45 methemoglobinemia 30.4 LOC106099062 HBG2 HBB G6PD
46 hemoglobin se disease 30.4 LOC110006319 LOC106099062 HBB
47 hemochromatosis, type 3 30.4 TFRC TFR2 HFE
48 hemochromatosis type 2 30.3 TFRC TFR2 HFE
49 plasmodium falciparum malaria 30.3 HBB G6PD CHIT1
50 diamond-blackfan anemia 30.2 TFRC KLF1 HBB-LCR GATA1 EPO

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 80)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%),Occasional (29-5%) HP:0001744
2 pallor 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Frequent (79-30%) HP:0000980
3 microcytic anemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001935
4 abnormal hemoglobin 58 31 hallmark (90%) Very frequent (99-80%) HP:0011902
5 muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0001324
6 respiratory insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0002093
7 hepatomegaly 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%),Occasional (29-5%) HP:0002240
8 reduced bone mineral density 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0004349
9 irritability 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0000737
10 abnormal skull morphology 58 31 frequent (33%) Frequent (79-30%) HP:0000929
11 abnormality of temperature regulation 58 31 frequent (33%) Frequent (79-30%) HP:0004370
12 abnormality of iron homeostasis 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%),Frequent (79-30%) HP:0011031
13 hypogonadotropic hypogonadism 31 frequent (33%) HP:0000044
14 hepatitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0012115
15 cholelithiasis 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001081
16 hypertrophic cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001639
17 thrombocytopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001873
18 venous thrombosis 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0004936
19 skin ulcer 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%),Frequent (79-30%) HP:0200042
20 hypochromic microcytic anemia 58 31 Very frequent (99-80%) HP:0004840
21 frontal bossing 58 Occasional (29-5%)
22 diabetes mellitus 58 Occasional (29-5%),Very rare (<4-1%)
23 hypothyroidism 58 Occasional (29-5%),Very rare (<4-1%)
24 osteopenia 58 Occasional (29-5%)
25 depressed nasal bridge 58 Occasional (29-5%)
26 bowing of the long bones 58 Frequent (79-30%)
27 abnormality of the dentition 58 Frequent (79-30%)
28 delayed puberty 58 Occasional (29-5%)
29 abnormality of the cardiovascular system 58 Occasional (29-5%)
30 anemia 58 Very frequent (99-80%)
31 genu valgum 58 Frequent (79-30%)
32 osteoporosis 58 Frequent (79-30%),Very frequent (99-80%)
33 growth delay 58 Frequent (79-30%)
34 failure to thrive in infancy 58 Frequent (79-30%)
35 hepatic fibrosis 58 Occasional (29-5%)
36 cirrhosis 58 Occasional (29-5%),Very rare (<4-1%)
37 abnormality of the skeletal system 58 Very frequent (99-80%),Frequent (79-30%)
38 hypogonadotrophic hypogonadism 58 Frequent (79-30%)
39 jaundice 58 Occasional (29-5%),Frequent (79-30%)
40 hypersplenism 58 Frequent (79-30%)
41 dilated cardiomyopathy 58 Occasional (29-5%)
42 dyspnea 58 Frequent (79-30%)
43 arthralgia 58 Occasional (29-5%)
44 arrhythmia 58 Very rare (<4-1%)
45 upslanted palpebral fissure 58 Occasional (29-5%)
46 hypoparathyroidism 58 Occasional (29-5%),Very rare (<4-1%)
47 pulmonary arterial hypertension 58 Occasional (29-5%)
48 abnormality of the liver 58 Occasional (29-5%)
49 proximal tubulopathy 58 Occasional (29-5%)
50 feeding difficulties 58 Frequent (79-30%)

Clinical features from OMIM®:

613985 (Updated 05-Mar-2021)

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 9.36 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 174)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metformin Approved Phase 4 657-24-9 14219 4091
2
Peginterferon alfa-2a Approved, Investigational Phase 4 198153-51-4 5360545
3
Ribavirin Approved Phase 4 36791-04-5 37542
4
Peginterferon alfa-2b Approved Phase 4 215647-85-1, 99210-65-8
5
Deferoxamine Approved, Investigational Phase 4 70-51-9 2973
6
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
7
Zinc sulfate Approved, Investigational Phase 4 7733-02-0
8
Methotrexate Approved Phase 4 1959-05-2, 59-05-2 126941
9
Levoleucovorin Approved, Investigational Phase 4 68538-85-2 149436
10
Mycophenolic acid Approved Phase 4 24280-93-1 446541
11
Basiliximab Approved, Investigational Phase 4 179045-86-4, 152923-56-3
12
Sodium citrate Approved, Investigational Phase 4 68-04-2
13
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
14
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
15 Immunologic Factors Phase 4
16 Anti-Infective Agents Phase 4
17 Antiviral Agents Phase 4
18 interferons Phase 4
19 Interferon-alpha Phase 4
20 Interferon alpha-2 Phase 4
21 Micronutrients Phase 4
22 Trace Elements Phase 4
23 Nutrients Phase 4
24 Heptavalent Pneumococcal Conjugate Vaccine Phase 4
25 Vasodilator Agents Phase 4
26 Antitubercular Agents Phase 4
27 Folic Acid Antagonists Phase 4
28 Vitamin B Complex Phase 4
29 Antimetabolites Phase 4
30 Thymoglobulin Phase 4
31 Cyclosporins Phase 4
32 Folate Phase 4
33 Dermatologic Agents Phase 4
34 Vitamin B9 Phase 4
35 Calcineurin Inhibitors Phase 4
36 Citrate Phase 4
37 Phosphodiesterase Inhibitors Phase 4
38 Phosphodiesterase 5 Inhibitors Phase 4
39 Sildenafil Citrate Phase 4 171599-83-0
40
Arginine Investigational, Nutraceutical Phase 4 74-79-3 6322
41
Sevoflurane Approved, Vet_approved Phase 2, Phase 3 28523-86-6 5206
42
Rocuronium Approved Phase 2, Phase 3 119302-91-9, 143558-00-3 441290
43
Propofol Approved, Investigational, Vet_approved Phase 2, Phase 3 2078-54-8 4943
44
Amlodipine Approved Phase 2, Phase 3 88150-42-9 2162
45
carbamide peroxide Approved Phase 2, Phase 3 124-43-6
46
Ledipasvir Approved Phase 3 1256388-51-8 67505836
47
Sofosbuvir Approved Phase 3 1190307-88-0 45375808
48
Zoledronic Acid Approved Phase 3 118072-93-8 68740
49
Denosumab Approved Phase 3 615258-40-7
50
Vitamin C Approved, Nutraceutical Phase 2, Phase 3 50-81-7 5785 54670067

Interventional clinical trials:

(show top 50) (show all 203)
# Name Status NCT ID Phase Drugs
1 Efficacy of Basiliximab in the Prevention of Acute Graft-versus-host Disease in Unrelated Allogeneic Hematopoietic Stem Cell Transplantation Therapy for Thalassemia Major Treatment: a Multi-center, Open, Randomized, Controlled Clinical Study Unknown status NCT02342145 Phase 4 Basiliximab,;cyclosporine A;Methotrexate;Mycophenolate mofetil
2 The Potential Hepatoprotective Effect of Metformin in Patients With Beta Thalasemia Major Unknown status NCT02984475 Phase 4 Metformin
3 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
4 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
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 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
8 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)
9 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
10 Safety and Efficacy of Early-start Deferiprone Treatment in Infants and Young Children Newly Diagnosed With Transfusion-dependent Beta Thalassemia Completed NCT03591575 Phase 4 Deferiprone oral solution;Placebo
11 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
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 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
14 Zinc Supplementation on Cellular Immunity in Thalassemia Major Completed NCT03117192 Phase 4 Zinc Sulfate;Sucrose Syrup
15 Pneumococcal Vaccination for Splenectomised Thalassemia Major Patients in Indonesia Completed NCT03095326 Phase 4 Sucrose
16 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]
17 Pilot Pharmacokinetic Study In Patients With Inadequate Response To Deferasirox (Exjade) Completed NCT00749515 Phase 4 Deferoxamine;Deferasirox
18 Evaluating the Efficacy of Deferasirox in Transfusion Dependent Chronic Anaemias (Myelodysplastic Syndrome, Beta-thalassaemia Patients) With Chronic Iron Overload Completed NCT00564941 Phase 4 deferasirox
19 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
20 Haploidentical Hematopoietic Stem Cell Transplantation for Patients With Thalassemia Major Recruiting NCT03171831 Phase 4 Busulfan;Cyclophosphamide;Fludarabine;Mycophenolate mofetil;Tacrolimus;Methotrexate;Thymoglobulin;Basiliximab
21 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
22 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
23 An Open Label Study to Evaluate the Pharmacokinetics, Safety, Tolerability and Efficacy of Deferasirox Administered to Chinese Patients With β-thalassemia Major Aged From 2 to Less Than 6 Years Old Withdrawn NCT01724138 Phase 4 Deferasirox
24 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
25 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
26 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
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 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
29 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
30 Efficacy and Safety Study of Sugammadex in Children 0-2 Years Old Unknown status NCT03728543 Phase 2, Phase 3 Sugammadex
31 Effect of Zinc Supplementation on Glucose Homeostasis in Patients With β-Thalassemia Major Complicated With Diabetes Mellitus Completed NCT03851055 Phase 3 Zinc
32 Amlodipine Use in the Prevention and Treatment of Iron Overload in Patients With Thalassemia Major Completed NCT01125254 Phase 2, Phase 3 Amlodipine
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 Amlodipine in the Prevention and Treatment of Iron Overload in Patients With Thalassemia Major: a Randomized, Controlled Trial Completed NCT01395199 Phase 3 Amlodipine
35 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
36 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
37 An Extension Study of Iron Chelation Therapy With Deferasirox (ICL670)in β-thalassemia Patients With Transfusional Iron Overload Completed NCT00171210 Phase 3 Deferasirox
38 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 Completed NCT04292314 Phase 2, Phase 3 Omega 3;Nigella Sativa Oil;Hydroxyurea;Honey;Deferoxamine
39 Pharmacokinetics of Sofosbuvir and Ledipasvir in Hepatitis C Virus - Infected Adolescent Patients With Haematological Disorders Recruiting NCT04353986 Phase 3 Sofosbuvir and Ledipasvir
40 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
41 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 Active, not recruiting NCT03207009 Phase 3
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 Active, not recruiting NCT02906202 Phase 3
43 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
44 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
45 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
46 Sperm DNA Damage in β-thalassemia Major: Is There a Role for Antioxidants? Unknown status NCT03014882 Phase 1, Phase 2 L-Carnitine and N-acetyl cysteine
47 A Multi-Center, Randomized, Open-Label, Parallel Group Study With LJPC-401 for the Treatment of Myocardial Iron Overload in Adult Patients With Transfusion-Dependent Beta Thalassemia Unknown status NCT03381833 Phase 2 LJPC-401;LJPC-401
48 An Open Label Trial Evaluating Cardiac T2* in Beta-thalassemia Patients on Deferasirox (ICL670) Treatment for 18 Months Completed NCT00447694 Phase 2 Deferasirox
49 Phase II Study of Safety & Efficacy of Deferasirox Given for 1 Year in Patients With Chronic Anemias and Transfusional Hemosiderosis Unable to be Treated With Deferoxamine Completed NCT00061763 Phase 2 Deferasirox
50 A Single Arm, Multicenter, Phase IIa Study to Explore the Efficacy and Safety of Ruxolitinib (INC424) in Regularly Transfused Patients With Thalassemia Completed NCT02049450 Phase 2 ruxolitinib

Search NIH Clinical Center for Beta-Thalassemia

Inferred drug relations via UMLS 71 / NDF-RT 51 :


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, Spleen, Spinal Cord, Endothelial
Sources

Publications for Beta-Thalassemia

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Articles related to Beta-Thalassemia:

(show top 50) (show all 6161)
# Title Authors PMID Year
1
Interaction of malaria with a common form of severe thalassemia in an Asian population. 61 6 57
19841268 2009
2
The inherited diseases of hemoglobin are an emerging global health burden. 57 6
20233970 2010
3
Global epidemiology of haemoglobin disorders and derived service indicators. 57 6
18568278 2008
4
Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia. 25 61 57
18245381 2008
5
A Phase 3 Trial of Luspatercept in Patients with Transfusion-Dependent β-Thalassemia. 25 57
32212518 2020
6
Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia. 57 25
29669226 2018
7
Beta-thalassemia. 54 61 57
20098328 2010
8
A novel silent beta-thalassemia mutation in the distal CACCC box affects the binding and responsiveness to EKLF. 54 61 6
15352994 2004
9
Molecular characterization of beta-thalassemia intermedia in patients of Italian descent and identification of three novel beta-thalassemia mutations. 6 61 54
2001456 1991
10
A novel frameshift mutation at codon 66 (HBB:c.del201A) in the β-globin gene leads to beta-thalassemia. 6 61
20532507 2011
11
Association of α globin gene quadruplication and heterozygous β thalassemia in patients with thalassemia intermedia. 25 54 61
19794088 2009
12
Hematopoietic stem cell gene transfer for the treatment of hemoglobin disorders. 25 54 61
20008255 2009
13
Hematological and molecular analysis of novel and rare beta-thalassemia mutations in the Indian population. 6 61
19205975 2009
14
Hb Showa-Yakushiji [beta110(G12)Leu-->Pro] in four unrelated patients from west Bengal. 61 6
15768552 2005
15
Genetic heterogeneity of Beta thalassemia in Lebanon reflects historic and recent population migration. 57 61
15638828 2005
16
Molecular spectrum of beta-thalassemia in the Mexican population. 6 61
15315794 2004
17
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
18
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
19
A frameshift at codons 77/78 (-C): a novel beta-thalassemia mutation. 6 61
15481896 2004
20
MS analysis of single-nucleotide differences in circulating nucleic acids: Application to noninvasive prenatal diagnosis. 61 57
15247415 2004
21
Bone histomorphometry in children and adolescents with beta-thalassemia disease: iron-associated focal osteomalacia. 61 57
12915694 2003
22
The global distribution of length polymorphisms of the promoters of the glucuronosyltransferase 1 gene (UGT1A1): hematologic and evolutionary implications. 61 6
12850492 2003
23
Hemoglobin E: a balanced polymorphism protective against high parasitemias and thus severe P falciparum malaria. 6 61
12149194 2002
24
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. 61 54 25
11809723 2002
25
A Korean family with a dominantly inherited beta-thalassemia due to Hb Durham-N.C./Brescia. 61 6
11300352 2001
26
Genetic modifying factors in beta-thalassemia. 61 57
10834399 2000
27
A significant beta-thalassemia heterogeneity in the United Arab Emirates. 61 6
9140720 1997
28
Interaction of hemoglobin E and pyrimidine 5' nucleotidase deficiency. 61 6
8839873 1996
29
Beta-thalassaemia in indigenous Belgian families: identification of a novel mutation. 61 6
8682512 1996
30
Mild beta+(-87)-thalassemia CACCC box mutation is associated with elevated fetal hemoglobin expression in cis. 61 6
7507641 1994
31
Dominant thalassemia-like phenotypes associated with mutations in exon 3 of the beta-globin gene. 61 6
1586746 1992
32
Two mutations in the beta-globin polyadenylylation signal reveal extended transcripts and new RNA polyadenylylation sites. 6 61
1374896 1992
33
The T-->A mutation at position -30 of the beta-globin gene found in a Karachai patient with beta-thalassemia intermedia. 6 61
1487424 1992
34
A novel beta-globin structural mutant, Hb Brescia (beta 114 Leu-Pro), causing a severe beta-thalassemia intermedia phenotype. 6 61
1301199 1992
35
Hemoglobin Terre Haute arginine beta 106. A posthumous correction to the original structure of hemoglobin Indianapolis. 6 61
2005117 1991
36
Evolution of a genetic disease in an ethnic isolate: beta-thalassemia in the Jews of Kurdistan. 61 6
1986379 1991
37
Beta-thalassemia, HB S-beta-thalassemia and sickle cell anemia among Tunisians. 6 61
1917531 1991
38
A new mutation at IVS1 nt 2(T----A), in beta-thalassemia from Algeria. 6 61
2393712 1990
39
Molecular basis for dominantly inherited inclusion body beta-thalassemia. 6 61
1971109 1990
40
Bone marrow transplantation in patients with thalassemia. 57 61
2300104 1990
41
Identification of the multiple beta-thalassemia mutations by denaturing gradient gel electrophoresis. 61 6
2298920 1990
42
A novel frameshift mutation [FSC 47 (+A)] causing beta-thalassemia in a Surinam patient. 61 6
2283303 1990
43
Beta-thalassemia genes in French-Canadians: haplotype and mutation analysis of Portneuf chromosomes. 6 61
1967205 1990
44
Beta-thalassemia in Turkey. 61 6
2200760 1990
45
A new TATA box mutation detected at prenatal diagnosis for beta-thalassemia. 61 57
2741940 1989
46
One form of inclusion body beta-thalassemia is due to a GAA----TAA mutation at codon 121 of the beta chain. 6 61
2563949 1989
47
Mutation analysis of beta-thalassemia genes in a German family reveals a rare transversion in the first intron. 6 61
2703241 1989
48
Beta-thalassemia due to two novel nucleotide substitutions in consensus acceptor splice sequences of the beta-globin gene. 61 6
2920213 1989
49
A 5' splice-region G----C mutation in exon 1 of the human beta-globin gene inhibits pre-mRNA splicing: a mechanism for beta+-thalassemia. 61 6
2915972 1989
50
Characterization of beta-thalassemia mutations among the Japanese. 61 6
2634667 1989
Sources

Variations for Beta-Thalassemia

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ClinVar genetic disease variations for Beta-Thalassemia:

6 (show top 50) (show all 416)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HBB HBB, 2-BP INS, 25TA Insertion Pathogenic 15154
2 HBB HBB, 1-BP DEL, C Deletion Pathogenic 15155
3 HBB HBB, 3-UNT, A DEL, +4 Deletion Pathogenic 15474
4 HBB HBB, 3-UNT, G INS, +4 Insertion Pathogenic 15475
5 HBB HBB, CAP, A-C SNV Pathogenic 15477
6 HBB HBB, -101C-G, PROMOTER SNV Pathogenic 15586
7 LOC110006319 NM_000518.5(HBB):c.383_385del (p.Gln128_Ala129delinsPro) Deletion Pathogenic 15410 rs34502690 11:5246887-5246889 11:5225657-5225659
8 LOC106099062 NM_000518.4(HBB):c.182T>A (p.Val61Glu) SNV Pathogenic 15411 rs33931779 11:5247940-5247940 11:5226710-5226710
9 LOC110006319 NM_000518.5(HBB):c.*112A>G SNV Pathogenic 15476 rs63750954 11:5246716-5246716 11:5225486-5225486
10 LOC110006319 NM_000518.4(HBB):c.320T>G (p.Leu107Arg) SNV Pathogenic 15487 rs33941844 11:5246952-5246952 11:5225722-5225722
11 LOC110006319 NM_000518.5(HBB):c.*110T>A SNV Pathogenic 15616 rs33978907 11:5246718-5246718 11:5225488-5225488
12 HBB NC_000011.9:g.5246486_5247105delinsTCTACTT Indel Pathogenic 982010 11:5246486-5247105 11:5225256-5225875
13 LOC106099062 NM_000518.5(HBB):c.59A>G (p.Asn20Ser) SNV Pathogenic 15258 rs33972047 11:5248193-5248193 11:5226963-5226963
14 LOC106099062 NM_000518.5(HBB):c.92+5G>T SNV Pathogenic 15448 rs33915217 11:5248155-5248155 11:5226925-5226925
15 LOC110006319 NM_000518.5(HBB):c.316-3C>A SNV Pathogenic 15451 rs33913413 11:5246959-5246959 11:5225729-5225729
16 LOC110006319 NM_000518.5(HBB):c.316-8T>G SNV Pathogenic 15453 rs34793594 11:5246964-5246964 11:5225734-5225734
17 LOC110006319 NM_000518.5(HBB):c.316-106C>G SNV Pathogenic 15457 rs34690599 11:5247062-5247062 11:5225832-5225832
18 LOC106099062 NM_000518.5(HBB):c.75T>A (p.Gly25=) SNV Pathogenic 15459 rs33951465 11:5248177-5248177 11:5226947-5226947
19 HBB NM_000518.5(HBB):c.-138C>T SNV Pathogenic 15460 rs33944208 11:5248389-5248389 11:5227159-5227159
20 HBB NM_000518.5(HBB):c.-142C>T SNV Pathogenic 15462 rs34883338 11:5248393-5248393 11:5227163-5227163
21 HBB NM_000518.5(HBB):c.-138C>A SNV Pathogenic 393701 rs33944208 11:5248389-5248389 11:5227159-5227159
22 HBB NM_000518.5(HBB):c.-136C>G SNV Pathogenic 15465 rs33994806 11:5248387-5248387 11:5227157-5227157
23 HBB NM_000518.5(HBB):c.-81A>G SNV Pathogenic 15466 rs33981098 11:5248332-5248332 11:5227102-5227102
24 HBB NM_000518.5(HBB):c.-78A>G SNV Pathogenic 15471 rs33931746 11:5248329-5248329 11:5227099-5227099
25 LOC110006319 NM_000518.5(HBB):c.*110T>C SNV Pathogenic 36332 rs33978907 11:5246718-5246718 11:5225488-5225488
26 LOC110006319 NM_000518.5(HBB):c.*113A>G SNV Pathogenic 15473 rs33985472 11:5246715-5246715 11:5225485-5225485
27 LOC110006319 NM_000518.5(HBB):c.*111A>G SNV Pathogenic 15488 rs63751128 11:5246717-5246717 11:5225487-5225487
28 HBB NM_000518.5(HBB):c.-82C>A SNV Pathogenic 15492 rs34500389 11:5248333-5248333 11:5227103-5227103
29 LOC110006319 NM_000518.5(HBB):c.*110_*114del Deletion Pathogenic 15506 rs35949130 11:5246714-5246718 11:5225484-5225488
30 LOC106099062 NM_000518.5(HBB):c.117_118del (p.Gln40fs) Deletion Pathogenic 15551 rs267607291 11:5248004-5248005 11:5226774-5226775
31 LOC110006319 NM_000518.5(HBB):c.385_388delinsCCACA (p.Ala129fs) Indel Pathogenic 15609 rs63750860 11:5246884-5246887 11:5225654-5225657
32 LOC106099062 NM_000518.5(HBB):c.315+1G>A SNV Pathogenic 15438 rs33945777 11:5247806-5247806 11:5226576-5226576
33 LOC110006319 NM_000518.5(HBB):c.316-197C>T SNV Pathogenic 15458 rs34451549 11:5247153-5247153 11:5225923-5225923
34 LOC110006319 NM_000518.5(HBB):c.316-2A>C SNV Pathogenic 21190 rs33914668 11:5246958-5246958 11:5225728-5225728
35 LOC110006319 NM_000518.5(HBB):c.316-2A>G SNV Pathogenic 21191 rs33914668 11:5246958-5246958 11:5225728-5225728
36 LOC106099062 NM_000518.5(HBB):c.52A>T (p.Lys18Ter) SNV Pathogenic 15401 rs33986703 11:5248200-5248200 11:5226970-5226970
37 LOC106099062 NM_000518.5(HBB):c.59A>G (p.Asn20Ser) SNV Pathogenic 15258 rs33972047 11:5248193-5248193 11:5226963-5226963
38 LOC106099062 NM_000518.5(HBB):c.92+1G>A SNV Pathogenic 15436 rs33971440 11:5248159-5248159 11:5226929-5226929
39 LOC106099062 NM_000518.5(HBB):c.51del (p.Lys18fs) Deletion Pathogenic 15414 rs35662066 11:5248201-5248201 11:5226971-5226971
40 HBB NM_000518.5(HBB):c.-142C>T SNV Pathogenic 15462 rs34883338 11:5248393-5248393 11:5227163-5227163
41 LOC106099062 NM_000518.5(HBB):c.-29G>A SNV Pathogenic 393702 rs34704828 11:5248280-5248280 11:5227050-5227050
42 LOC110006319 NM_000518.5(HBB):c.*6C>G SNV Pathogenic 393707 rs34809925 11:5246822-5246822 11:5225592-5225592
43 HBB NM_000518.5(HBB):c.-138C>A SNV Pathogenic 393701 rs33944208 11:5248389-5248389 11:5227159-5227159
44 HBB NM_000518.4:c.91+6T>C SNV Pathogenic 393705
45 LOC106099062 NM_000518.5(HBB):c.-41del Deletion Pathogenic 393703 rs35352549 11:5248292-5248292 11:5227062-5227062
46 HBB c.17delA Deletion Pathogenic 393708
47 LOC110006319 NM_000518.5(HBB):c.*110T>C SNV Pathogenic 36332 rs33978907 11:5246718-5246718 11:5225488-5225488
48 HBB NM_000518.5(HBB):c.-137C>T SNV Pathogenic 36287 rs33941377 11:5248388-5248388 11:5227158-5227158
49 LOC106099062 NM_000518.5(HBB):c.-18C>G SNV Pathogenic 393704 rs34135787 11:5248269-5248269 11:5227039-5227039
50 LOC106099062 NM_000518.5(HBB):c.20del (p.Glu7fs) Deletion Pathogenic 15418 rs63749819 11:5248232-5248232 11:5227002-5227002

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
HIF-1 signaling pathway 36
11.54 TFRC TF EPO
2
HIF-1-alpha transcription factor network 1
11.25 TFRC TF EPO
3
Factors involved in megakaryocyte development and platelet production 65
11.22 HBG2 HBG1 HBD HBB GATA1
4
Hematopoietic Stem Cell Differentiation 1
11.01 KLF1 GATA1 EPO
5
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 9.73 TFRC TF HBG2 HBD HBB HBA2
2 recycling endosome GO:0055037 9.58 TFRC TF HFE
3 HFE-transferrin receptor complex GO:1990712 9.46 TFRC TFR2 TF HFE
4 endocytic vesicle lumen GO:0071682 9.37 HBB HBA2
5 haptoglobin-hemoglobin complex GO:0031838 9.35 HBG2 HBG1 HBD HBB HBA2
6 basal part of cell GO:0045178 9.32 TF HFE
7 hemoglobin complex GO:0005833 9.1 HBG2 HBG1 HBD HBB HBA2 AHSP

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 9.83 TFRC TFR2 HBB HBA2
2 blood coagulation GO:0007596 9.83 HBG2 HBG1 HBD HBB GATA1
3 cellular iron ion homeostasis GO:0006879 9.71 TFRC TFR2 TF HFE
4 acute-phase response GO:0006953 9.69 TFR2 HFE EPO
5 iron ion homeostasis GO:0055072 9.67 TFR2 TF HFE
6 erythrocyte differentiation GO:0030218 9.67 KLF1 GATA1 EPO AHSP
7 iron ion transport GO:0006826 9.63 TFRC TFR2 TF
8 positive regulation of receptor-mediated endocytosis GO:0048260 9.58 TF HFE
9 positive regulation of bone resorption GO:0045780 9.57 TFRC TF
10 response to iron ion GO:0010039 9.56 TFR2 HFE
11 transferrin transport GO:0033572 9.56 TFRC TFR2 TF HFE
12 erythrocyte maturation GO:0043249 9.55 G6PD EPO
13 cellular oxidant detoxification GO:0098869 9.55 HBG2 HBG1 HBD HBB HBA2
14 positive regulation of peptide hormone secretion GO:0090277 9.54 TFR2 HFE
15 cellular response to iron ion GO:0071281 9.5 TFR2 TF HFE
16 regulation of iron ion transport GO:0034756 9.48 TF HFE
17 hydrogen peroxide catabolic process GO:0042744 9.35 HBG2 HBG1 HBD HBB HBA2
18 oxygen transport GO:0015671 9.02 HBG2 HBG1 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 9.8 HBG2 HBG1 HBD HBB HBA2
2 peroxidase activity GO:0004601 9.77 HBG2 HBG1 HBD HBB HBA2
3 oxygen binding GO:0019825 9.72 HBG2 HBG1 HBD HBB HBA2
4 hemoglobin alpha binding GO:0031721 9.56 HBG2 HBG1 HBD HBB
5 oxygen carrier activity GO:0005344 9.55 HBG2 HBG1 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 9.35 HBG2 HBG1 HBD HBB HBA2
11 haptoglobin binding GO:0031720 9.02 HBG2 HBG1 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
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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