MCID: SCK034
MIFTS: 29

Sickle Beta Thalassemia

Categories: Rare diseases, Blood diseases

Aliases & Classifications for Sickle Beta Thalassemia

MalaCards integrated aliases for Sickle Beta Thalassemia:

Name: Sickle Beta Thalassemia 49
Sickle Cell-Beta-Thalassemia Disease Syndrome 49 55
Hbs-Beta-Thalassemia Syndrome 49 55
Sickle Cell-Beta-Thalassemia 28 69
Sickle Cell - Beta-Thalassemia Disease 49
Hemoglobin Sickle-Beta Thalassemia 49
Sickle Cell-Beta^+^-Thalassemia 69
Hbs - Beta-Thalassemia 49
Hb S Beta-Thalassemia 49

Characteristics:

Orphanet epidemiological data:

55
sickle cell-beta-thalassemia disease syndrome
Inheritance: Autosomal recessive; Age of onset: All ages;

Classifications:



External Ids:

Orphanet 55 ORPHA251359
UMLS via Orphanet 70 C0221019 C0857812
ICD10 via Orphanet 33 D57.2

Summaries for Sickle Beta Thalassemia

NIH Rare Diseases : 49 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 of 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 beta-thalassemia and thalassemia. An important gene associated with Sickle Beta Thalassemia is HBB (Hemoglobin Subunit Beta). The drugs Nitric Oxide and Tacrolimus have been mentioned in the context of this disorder. Affiliated tissues include liver, pancreas and heart.

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:

# Related Disease Score Top Affiliating Genes
1 beta-thalassemia 10.4
2 thalassemia 10.4
3 pheochromocytoma 9.8
4 sickle cell anemia 9.8
5 hepatitis 9.8
6 thrombocytopenia 9.8
7 splenic sequestration 9.8
8 thrombophilia 9.8
9 sickle cell disease 9.8

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 69)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nitric Oxide Approved Phase 2,Phase 1 10102-43-9 145068
2
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 445643 439492
3
Melphalan Approved Phase 1, Phase 2,Early Phase 1 148-82-3 460612 4053
4
Cyclophosphamide Approved, Investigational Phase 1, Phase 2 50-18-0, 6055-19-2 2907
5
Fludarabine Approved Phase 1, Phase 2, Early Phase 1 21679-14-1, 75607-67-9 30751
6
Busulfan Approved, Investigational Phase 1, Phase 2,Early Phase 1 55-98-1 2478
7
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
8
alemtuzumab Approved, Investigational Phase 1, Phase 2,Early Phase 1 216503-57-0
9
Everolimus Approved Phase 1, Phase 2 159351-69-6 6442177
10 Thiotepa Approved, Investigational Phase 1, Phase 2 52-24-4 5453
11
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
12
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 46835353 6436030 5284616
13 Respiratory System Agents Phase 2,Phase 1
14 Gastrointestinal Agents Phase 1, Phase 2
15 Neurotransmitter Agents Phase 2,Phase 1
16 Vasodilator Agents Phase 2,Phase 1
17 Peripheral Nervous System Agents Phase 2,Phase 1
18 Anti-Asthmatic Agents Phase 2,Phase 1
19 Endothelium-Dependent Relaxing Factors Phase 2,Phase 1
20 Protective Agents Phase 2,Phase 1
21 Liver Extracts Phase 1, Phase 2
22 Antioxidants Phase 2,Phase 1
23 Autonomic Agents Phase 2,Phase 1
24 Bronchodilator Agents Phase 2,Phase 1
25 Prednisolone acetate Phase 1, Phase 2
26 Alkylating Agents Phase 1, Phase 2
27 glucocorticoids Phase 1, Phase 2
28 Methylprednisolone acetate Phase 1, Phase 2
29 Methylprednisolone Hemisuccinate Phase 1, Phase 2
30 Neuroprotective Agents Phase 1, Phase 2
31 Hormone Antagonists Phase 1, Phase 2
32 Hormones Phase 1, Phase 2
33 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
34 Pharmaceutical Solutions Phase 1, Phase 2
35 Antiemetics Phase 1, Phase 2
36 Prednisolone hemisuccinate Phase 1, Phase 2
37 Immunosuppressive Agents Phase 1, Phase 2
38 Prednisolone phosphate Phase 1, Phase 2
39 Antimetabolites Phase 1, Phase 2
40 Anti-Inflammatory Agents Phase 1, Phase 2
41 Antimetabolites, Antineoplastic Phase 1, Phase 2
42 Antineoplastic Agents, Hormonal Phase 1, Phase 2
43 Antirheumatic Agents Phase 1, Phase 2
44 Calcineurin Inhibitors Phase 1, Phase 2
45
Hydroxyurea Approved Phase 1 127-07-1 3657
46
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
47
Panobinostat Approved, Investigational Phase 1 404950-80-7 6918837
48
Citric Acid Approved, Nutraceutical, Vet_approved Phase 1 77-92-9 311
49 Sildenafil Citrate Phase 1 171599-83-0
50 Nitric Oxide Donors Phase 1

Interventional clinical trials:

(show all 18)

# Name Status NCT ID Phase Drugs
1 Nitric Oxide Inhalation to Treat Sickle Cell Pain Crises Completed NCT00094887 Phase 2 Nitric Oxide;Placebo
2 CD34+ (Malignant) Stem Cell Selection for Patients Receiving Allogenic Stem Cell Transplant Recruiting NCT02061800 Phase 1, Phase 2 Thiotepa;Cyclophosphamide;Alemtuzumab;Tacrolimus;Melphalan;Busulfan;Fludarabine;Methylprednisolone
3 Therapeutic Application of Intravascular Nitrite for Sickle Cell Disease Completed NCT00095472 Phase 1 L-NMMA;Sodium Nitrite
4 Evaluation of Hydroxyurea Plus L-arginine or Sildenafil to Treat Sickle Cell Anemia Completed NCT00056433 Phase 1 Hydroxyurea;L-Arginine;Sildenafil
5 Haploidentical Hematopoietic Stem Cell Transplantation Recruiting NCT02165007 Phase 1 peripheral blood stem cell graft that are CD34+ selected
6 The Role of Endothelin-1 in Sickle Cell Disease Recruiting NCT02712346 Phase 1 Ambrisentan;Placebo
7 Study of Panobinostat (LBH589) in Patients With Sickle Cell Disease Active, not recruiting NCT01245179 Phase 1 panobinostat
8 The Spleen in Sickle Cell Anemia and Sickle Cell Thalassemia Completed NCT00971698
9 Clinical and Laboratory Assessment of Iron Overload in Sickle Cell Anemia and Sickle Cell Thalassemia Completed NCT00512564
10 Iron Overload Assesment in Sickle Cell Anemia and Sickle Cell Thalassemia Completed NCT00512226
11 MRI Evaluation of Iron Overload in the Heart, Liver and Pancreas in Patients Receiving Multiple Blood Transfusions. Completed NCT00629291
12 Clinical and Laboratory Characteristics of Sickle Cell Anemia Patients Admitted With Fever Completed NCT00736060
13 Long Term Follow up in Sickle Cell Patients Treated by Hydroxyurea Completed NCT00480974
14 Iron Overload and Growth Velocity in Thalassemia and Sickle Cell Anemia Completed NCT00972231
15 Sickle Cell Anemia in an Arab Bedouin Village in the Northern Israel Completed NCT00481039
16 CD34+ (Non-Malignant) Stem Cell Selection for Patients Receiving Allogeneic Stem Cell Transplantation Recruiting NCT01966367 Early Phase 1
17 Epidemiology of Silent and Overt Strokes in Sickle Cell Anemia Recruiting NCT03376893
18 Sickle Cell Anemia - A Comparative Study Between Three Ethnical Communities, a Multicenter Study Recruiting NCT01905787

Search NIH Clinical Center for Sickle Beta Thalassemia

Genetic Tests for Sickle Beta Thalassemia

Genetic tests related to Sickle Beta Thalassemia:

# Genetic test Affiliating Genes
1 Sickle Cell-Beta-Thalassemia 28

Anatomical Context for Sickle Beta Thalassemia

MalaCards organs/tissues related to Sickle Beta Thalassemia:

38
Liver, Pancreas, Heart, Spleen

Publications for Sickle Beta Thalassemia

Articles related to Sickle Beta Thalassemia:

(show all 14)
# 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
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
7
Cardiac involvement in sickle beta-thalassemia. ( 19107483 )
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
Should we screen Eastern Mediterranean sickle beta-thalassemia patients for inherited thrombophilia? ( 15748263 )
2005
12
Pheochromocytoma in a patient with sickle-beta-thalassemia. ( 16203603 )
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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....