MCID: SCK034
MIFTS: 30

Sickle Beta Thalassemia malady

Categories: Rare diseases, Blood diseases

Aliases & Classifications for Sickle Beta Thalassemia

Aliases & Descriptions for Sickle Beta Thalassemia:

Name: Sickle Beta Thalassemia 50
Sickle Cell-Beta-Thalassemia Disease Syndrome 50 56 29
Hbs-Beta-Thalassemia Syndrome 50 56
Sickle Cell - Beta-Thalassemia Disease 50
Hemoglobin Sickle-Beta Thalassemia 50
Sickle Cell-Beta-Thalassemia 69
Hbs - Beta-Thalassemia 50
Hb S Beta-Thalassemia 50

Characteristics:

Orphanet epidemiological data:

56
sickle cell-beta-thalassemia disease syndrome
Inheritance: Autosomal recessive; Age of onset: All ages;

Classifications:



External Ids:

Orphanet 56 ORPHA251359
UMLS via Orphanet 70 C0221019 C0857812
ICD10 via Orphanet 34 D57.2

Summaries for Sickle Beta Thalassemia

NIH Rare Diseases : 50 sickle beta thalassemia is an inherited condition that affects hemoglobin, the protein in red blood cells that carries oxygen to different parts of the body. it is a type of sickle cell disease. affected people have a different change (mutation) in each copy of their hbb gene: one that causes red blood cells to form a "sickle" or crescent shape and a second that is associated with beta thalassemia, a blood disorder that reduces the production of hemoglobin. depending on the beta thalassemia mutation, people may have no normal hemoglobin (called sickle beta zero thalassemia) or a reduced amount of normal hemoglobin (called sickle beta plus thalassemia). the presence of sickle-shaped red blood cells, which often breakdown prematurely and can get stuck in blood vessels, combined with the reduction or absence mature red blood cells leads to the many signs and symptoms of sickle beta thalassemia. features, which may include anemia (low levels of red blood cells), repeated infections, and frequent episodes of pain, generally develop in early childhood and vary in severity depending on the amount of normal hemoglobin made. sickle beta thalassemia is inherited in an autosomal recessive manner. treatment is supportive and depends on the signs and symptoms present in each person. last updated: 12/21/2014

MalaCards based summary : Sickle Beta Thalassemia, also known as sickle cell-beta-thalassemia disease syndrome, is related to thalassemia and pheochromocytoma. An important gene associated with Sickle Beta Thalassemia is HBB (Hemoglobin Subunit Beta). The drugs Iron and Deferoxamine have been mentioned in the context of this disorder. Affiliated tissues include liver.

Wikipedia : 71 Sickle cell-beta thalassemia (Sickle cell-β thalassemia) is an inherited blood disorder. The disease... more...

Related Diseases for Sickle Beta Thalassemia

Diseases in the Sickle Beta Thalassemia family:

Sickle Delta Beta Thalassemia

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

id Related Disease Score Top Affiliating Genes
1 thalassemia 10.3
2 pheochromocytoma 9.7
3 sickle cell anemia 9.7
4 hepatitis 9.7
5 thrombocytopenia 9.7
6 splenic sequestration 9.7
7 thrombophilia 9.7
8 sickle cell disease 9.7

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



Diseases related to Sickle Beta Thalassemia

Symptoms & Phenotypes for Sickle Beta Thalassemia

Drugs & Therapeutics for Sickle Beta Thalassemia

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

(show top 50) (show all 157)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved Phase 4,Phase 2,Phase 3,Phase 1 7439-89-6 23925
2
Deferoxamine Approved, Investigational Phase 4,Phase 2,Phase 3 70-51-9 2973
3
Ribavirin Approved Phase 4 36791-04-5 37542
4
Deferasirox Approved, Investigational Phase 4,Phase 2,Phase 3 201530-41-8 5493381
5
Peginterferon alfa-2a Approved, Investigational Phase 4 198153-51-4 5360545
6
Peginterferon alfa-2b Approved Phase 4 99210-65-8, 215647-85-1
7 interferons Phase 4
8 Chelating Agents Phase 4,Phase 2,Phase 3,Phase 1
9 Anti-Infective Agents Phase 4,Phase 2,Phase 1
10 Interferon-alpha Phase 4
11 Iron Chelating Agents Phase 4,Phase 2,Phase 3
12 Liver Extracts Phase 4,Phase 2,Phase 3,Phase 1
13 Antimetabolites Phase 4,Phase 2,Phase 1
14 Antiviral Agents Phase 4,Phase 2,Phase 1
15
Deferiprone Approved Phase 2, Phase 3 30652-11-0 2972
16 Trace Elements Phase 2, Phase 3,Phase 1
17 Micronutrients Phase 2, Phase 3,Phase 1
18
Nitric Oxide Approved Phase 2,Phase 1 10102-43-9 145068
19
Cyclosporine Approved, Investigational, Vet_approved Phase 2,Phase 1 79217-60-0, 59865-13-3 5284373 6435893
20
Aspirin Approved, Vet_approved Phase 1, Phase 2 50-78-2 2244
21
Cyclophosphamide Approved, Investigational Phase 2,Phase 1 50-18-0, 6055-19-2 2907
22
Mycophenolic acid Approved Phase 2,Phase 1 24280-93-1 446541
23
Mycophenolate mofetil Approved, Investigational Phase 2,Phase 1 128794-94-5 5281078
24
Hydroxyurea Approved Phase 2,Phase 1 127-07-1 3657
25
Fludarabine Approved Phase 2,Phase 1 21679-14-1, 75607-67-9 30751
26
Losartan Approved Phase 2 114798-26-4 3961
27
Busulfan Approved, Investigational Phase 2,Phase 1 55-98-1 2478
28
Histamine Approved, Investigational Phase 2 75614-87-8, 51-45-6 774
29
Propranolol Approved, Investigational Phase 2 525-66-6 4946
30
Miconazole Approved, Investigational, Vet_approved Phase 2,Phase 1 22916-47-8 4189
31
alemtuzumab Approved, Investigational Phase 2,Phase 1 216503-57-0
32
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 445643 439492
33
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
34
Melphalan Approved Phase 1, Phase 2 148-82-3 4053 460612
35
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
36
Acetaminophen Approved Phase 2 103-90-2 1983
37
Pentostatin Approved, Investigational Phase 1, Phase 2 53910-25-1 40926 439693
38
Vidarabine Approved Phase 2 24356-66-9 32326 21704
39
Adenosine Approved, Investigational Phase 1, Phase 2 58-61-7 60961
40
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
41
Diphenhydramine Approved Phase 2 58-73-1, 147-24-0 3100
42
Everolimus Approved Phase 1, Phase 2 159351-69-6 6442177
43
Thiotepa Approved Phase 1, Phase 2 52-24-4 5453
44
Promethazine Approved Phase 2 60-87-7 4927
45
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
46
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030 46835353
47
Lenograstim Approved Phase 1, Phase 2 135968-09-1
48
Rivaroxaban Approved Phase 2 366789-02-8
49
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
50
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865

Interventional clinical trials:

(show top 50) (show all 70)
id Name Status NCT ID Phase
1 Interferon and Ribavirin Treatment in Patients With Hemoglobinopathies Unknown status NCT00887081 Phase 4
2 Pilot Study for Patients With Poor Response to Deferasirox Completed NCT00749515 Phase 4
3 Study Of Efficacy,Safety of Combined Deferasirox and Deferiprone Versus Combined Deferiprone and Desferal In Conditions of Iron Overload Unknown status NCT01511848 Phase 2, Phase 3
4 A Randomized Trial of LOVAZA in Pediatric Sickle Cell Disease (SCD) Unknown status NCT01202812 Phase 2
5 Phase II Randomized Trial:Arginine Butyrate Plus Standard Local Therapy in Patients With Refractory Sickle Cell Ulcers Completed NCT00004412 Phase 2
6 Nitric Oxide Inhalation to Treat Sickle Cell Pain Crises Completed NCT00094887 Phase 2
7 Allogeneic Bone Marrow Transplantation for the Treatment of Genetic Disorders of Erythropoiesis Completed NCT00578435 Phase 2
8 Cord Blood Transplantation for Sickle Cell Anemia and Thalassemia Completed NCT00029380 Phase 2
9 High-Tc Susceptometer to Monitor Transfusional Iron Overload Completed NCT01241357 Phase 2
10 Safety and Pharmacodynamic Study of an Oral Iron Chelator Given for 6 Months to Patients With Iron Overload Completed NCT01186419 Phase 2
11 Efficacy and Safety of Deferasirox in Patients With Chronic Anemia and Transfusional Hemosiderosis Completed NCT00631163 Phase 2
12 Losartan to Reverse Sickle Nephropathy Completed NCT01479439 Phase 2
13 Allogeneic Stem Cell Transplantation Following Chemotherapy in Patients With Hemoglobinopathies Completed NCT00153985 Phase 2
14 Aspirin Prophylaxis in Sickle Cell Disease Completed NCT00178464 Phase 1, Phase 2
15 Study of Propranolol as Anti-Adhesive Therapy in Sickle Cell Disease (SCD) Completed NCT01077921 Phase 2
16 Stem Cell Transplant in Sickle Cell Disease and Thalassemia Recruiting NCT00408447 Phase 2
17 Nonmyeloablative Peripheral Blood Mobilized Hematopoietic Precursor Cell Transplantation for Sickle Cell Disease and Beta-thalassemia in People With Higher Risk of Transplant Failure Recruiting NCT02105766 Phase 1, Phase 2
18 HSCT For Patients With High Risk Hemoglobinopathies Using Reduced Intensity Recruiting NCT02435901 Phase 1, Phase 2
19 Improving the Results of Bone Marrow Transplantation for Patients With Severe Congenital Anemias Recruiting NCT00061568 Phase 2
20 CD34+ (Malignant) Stem Cell Selection for Patients Receiving Allogenic Stem Cell Transplant Recruiting NCT02061800 Phase 1, Phase 2
21 CD34+Selection for Partially Matched Family or Matched Unrelated Adult Donor Transplant Recruiting NCT01049854 Phase 2
22 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2
23 Treosulfan and Fludarabine Phosphate Before Donor Stem Cell Transplant in Treating Patients With Nonmalignant Inherited Disorders Recruiting NCT00919503 Phase 2
24 A Study Evaluating the Efficacy and Safety of LentiGlobin BB305 Drug Product in Beta-Thalassemia Major and Sickle Cell Disease Active, not recruiting NCT02151526 Phase 1, Phase 2
25 Nonmyeloablative Haploidentical Peripheral Blood Mobilized Hematopoietic Precursor Cell Transplantation for Severe Congenital Anemias Including Sickle Cell Disease and Beta-Thalassemia Active, not recruiting NCT00977691 Phase 1, Phase 2
26 The Effect of Rivaroxaban in Sickle Cell Disease Enrolling by invitation NCT02072668 Phase 2
27 A Pilot Study of N-acetylcysteine in Patients With Sickle Cell Disease Enrolling by invitation NCT01800526 Phase 1, Phase 2
28 Phase I/II Pilot Study of Mixed Chimerism to Treat Hemoglobinopathies Suspended NCT01419704 Phase 1, Phase 2
29 Stem Cell Transplantation After Reduced-Dose Chemotherapy for Patients With Sickle Cell Disease or Thalassemia Terminated NCT00034528 Phase 2
30 Safety, Efficacy and Pharmacokinetics of an Oral Iron Chelator Given for a Year to Pediatric Patients With Iron Overload Terminated NCT01363908 Phase 2
31 A Single-arm Safety Study of Transplantation Using Umbilical Cord Blood and Human Placental-derived Stem Cells From Partially Matched Related Donors in Persons With Certain Malignant Blood Diseases and Non-malignant Disorders Unknown status NCT00596999 Phase 1
32 Therapeutic Application of Intravascular Nitrite for Sickle Cell Disease Completed NCT00095472 Phase 1
33 Evaluation of Hydroxyurea Plus L-arginine or Sildenafil to Treat Sickle Cell Anemia Completed NCT00056433 Phase 1
34 Safety and Pharmacokinetic Study of Escalating Multiple Doses of an Iron Chelator in Patients With Iron Overload Completed NCT01039636 Phase 1
35 Quantifying the Presence of Lung Disease and Pulmonary Hypertension in Children With Sickle Cell Disease Completed NCT01895998 Phase 1
36 Haploidentical Hematopoietic Stem Cell Transplantation for Children With Sickle Cell Disease and Thalassemia Using CD34+ Positive Selected Grafts Recruiting NCT02165007 Phase 1
37 The Role of Endothelin-1 in Sickle Cell Disease Recruiting NCT02712346 Phase 1
38 Study of Panobinostat (LBH589) in Patients With Sickle Cell Disease Recruiting NCT01245179 Phase 1
39 Dose-Escalation Study of SCD-101 in Sickle Cell Disease Recruiting NCT02380079 Phase 1
40 A Study of IMR-687 in Healthy Adult Volunteers Recruiting NCT02998450 Phase 1
41 BMT Abatacept for Non-Malignant Diseases Recruiting NCT01917708 Phase 1
42 Prevalence Of Microalbuminuria Among Children Suffering From Sickle Cell Nephropathy and Sickle Cell/Beta-Thalassemia Unknown status NCT01092169
43 GDF 15 in Sickle Cell Disease and Hereditary Spherocytosis Unknown status NCT01201135
44 Multi-Center Study of Iron Overload: Survey Study (MCSIO) Unknown status NCT01913548
45 Multi-Center Study of Iron Overload: Pilot Study Unknown status NCT01114776
46 The Spleen in Sickle Cell Anemia and Sickle Cell Thalassemia Completed NCT00971698
47 Clinical and Laboratory Assessment of Iron Overload in Sickle Cell Anemia and Sickle Cell Thalassemia Completed NCT00512564
48 Iron Overload Assesment in Sickle Cell Anemia and Sickle Cell Thalassemia Completed NCT00512226
49 MRI Evaluation of Iron Overload in the Heart, Liver and Pancreas in Patients Receiving Multiple Blood Transfusions. Completed NCT00629291
50 Clinical and Laboratory Characteristics of Sickle Cell Anemia Patients Admitted With Fever Completed NCT00736060

Search NIH Clinical Center for Sickle Beta Thalassemia

Genetic Tests for Sickle Beta Thalassemia

Genetic tests related to Sickle Beta Thalassemia:

id Genetic test Affiliating Genes
1 Sickle Cell-Beta-Thalassemia 29

Anatomical Context for Sickle Beta Thalassemia

MalaCards organs/tissues related to Sickle Beta Thalassemia:

39
Liver

Publications for Sickle Beta Thalassemia

Articles related to Sickle Beta Thalassemia:

(show all 14)
id Title Authors Year
1
Frequency distribution of sickle cell anemia, sickle cell trait and sickle/beta-thalassemia among anemic patients in Saudi Arabia. ( 26604627 )
2015
2
Safety and efficacy of hydroxyurea in children and adolescents with sickle/beta-thalassemia: two-year experience. ( 27418768 )
2015
3
Doppler Assessment of Renal Hemodynamic Alterations in Homozygous Sickle Cell Disease and Sickle Beta-Thalassemia. ( 25294847 )
2014
4
Exposure to hydroxyurea during pregnancy in sickle-beta thalassemia: a report of 2 cases. ( 19797538 )
2010
5
Acute sickle hepatic crisis after liver transplantation in a patient with sickle beta-thalassemia. ( 20720482 )
2010
6
Cardiac involvement in sickle beta-thalassemia. ( 19107483 )
2009
7
The relationship between the type of mutation in the globin gene and the type and severity of sickle/beta-thalassemia disease in Jordanian patients. ( 19618018 )
2009
8
Transfusion of multiple units of Js(b+) red blood cells in the presence of anti-Jsb in a patient with sickle beta-thalassemia disease and a review of the literature. ( 18004938 )
2007
9
Acute splenic sequestration crisis in an adult with sickle beta-thalassemia. ( 16705454 )
2006
10
Isolated thrombocytopenia associated with hydroxyurea/deferiprone (L1) therapy in a sickle beta thalassemia patient. ( 16785128 )
2006
11
Pheochromocytoma in a patient with sickle-beta-thalassemia. ( 16203603 )
2005
12
Should we screen Eastern Mediterranean sickle beta-thalassemia patients for inherited thrombophilia? ( 15748263 )
2005
13
Sickle beta-thalassemia presenting as orbital compression syndrome. ( 14986068 )
2004
14
Multi-organ failure associated with acute parvovirus infection and exercise in a patient with sickle beta thalassemia. ( 15586616 )
2004

Variations for Sickle Beta Thalassemia

Expression for Sickle Beta Thalassemia

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

Pathways for Sickle Beta Thalassemia

GO Terms for Sickle Beta Thalassemia

Sources for Sickle Beta Thalassemia

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