MCID: SCK034
MIFTS: 31

Sickle Beta Thalassemia

Categories: Blood diseases, Rare diseases

Aliases & Classifications for Sickle Beta Thalassemia

MalaCards integrated aliases for Sickle Beta Thalassemia:

Name: Sickle Beta Thalassemia 53
Sickle Cell-Beta-Thalassemia Disease Syndrome 53 59
Hbs-Beta-Thalassemia Syndrome 53 59
Sickle Cell-Beta-Thalassemia 29 73
Sickle Cell - Beta-Thalassemia Disease 53
Hemoglobin Sickle-Beta Thalassemia 53
Sickle Cell-Beta^+^-Thalassemia 73
Hbs - Beta-Thalassemia 53
Hb S Beta-Thalassemia 53

Characteristics:

Orphanet epidemiological data:

59
sickle cell-beta-thalassemia disease syndrome
Inheritance: Autosomal recessive; Age of onset: All ages;

Classifications:



External Ids:

Orphanet 59 ORPHA251359
UMLS via Orphanet 74 C0221019 C0857812
ICD10 via Orphanet 34 D57.2

Summaries for Sickle Beta Thalassemia

NIH Rare Diseases : 53 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.

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 Fludarabine have been mentioned in the context of this disorder. Affiliated tissues include bone, liver and spleen.

Wikipedia : 76 Sickle cell-beta thalassemia (Sickle cell-β thalassemia) is an inherited blood disorder. The disease may... 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:

(show all 21)
# Related Disease Score Top Affiliating Genes
1 beta-thalassemia 10.6
2 thalassemia 10.6
3 pancreatitis 10.3
4 alpha-thalassemia 10.2
5 osteoporosis 10.1
6 pernicious anemia 10.1
7 persistent generalized lymphadenopathy 10.1
8 thrombotic thrombocytopenic purpura 10.1
9 pancytopenia 10.1
10 acute chest syndrome 10.1
11 purpura 10.1
12 bone marrow necrosis 10.1
13 liver cirrhosis 10.1
14 hemosiderosis 10.1
15 sickle cell anemia 10.1
16 pheochromocytoma 9.9
17 thrombocytopenia 9.9
18 splenic sequestration 9.9
19 thrombophilia 9.9
20 hemoglobin c disease 9.9
21 sickle cell disease 9.9

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 74)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nitric Oxide Approved Phase 2,Phase 1 10102-43-9 145068
2
Fludarabine Approved Phase 1, Phase 2,Phase 2,Early Phase 1 75607-67-9, 21679-14-1 30751
3
Cyclophosphamide Approved, Investigational Phase 1, Phase 2 6055-19-2, 50-18-0 2907
4
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
5
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
6
Thiotepa Approved, Investigational Phase 1, Phase 2 52-24-4 5453
7
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 445643 439492
8
Prednisolone phosphate Approved, Vet_approved Phase 1, Phase 2 302-25-0
9
Methylprednisolone hemisuccinate Approved Phase 1, Phase 2 2921-57-5
10
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 46835353 6436030 5284616
11
Melphalan Approved Phase 1, Phase 2,Early Phase 1 148-82-3 4053 460612
12
Busulfan Approved, Investigational Phase 1, Phase 2,Early Phase 1 55-98-1 2478
13
alemtuzumab Approved, Investigational Phase 1, Phase 2,Early Phase 1 216503-57-0
14
Prednisolone hemisuccinate Experimental Phase 1, Phase 2 2920-86-7
15 Endothelium-Dependent Relaxing Factors Phase 2,Phase 1
16 Vasodilator Agents Phase 2,Phase 1
17 Respiratory System Agents Phase 2,Phase 1
18 Free Radical Scavengers Phase 2,Phase 1
19 Antioxidants Phase 2,Phase 1
20 Autonomic Agents Phase 2,Phase 1
21 Neurotransmitter Agents Phase 2,Phase 1
22 Anti-Asthmatic Agents Phase 2,Phase 1
23 Protective Agents Phase 2,Phase 1
24 Peripheral Nervous System Agents Phase 2,Phase 1
25 Bronchodilator Agents Phase 2,Phase 1
26 Gastrointestinal Agents Phase 1, Phase 2
27 Liver Extracts Phase 1, Phase 2,Not Applicable
28 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
29 Hormone Antagonists Phase 1, Phase 2
30 Calcineurin Inhibitors Phase 1, Phase 2
31 Prednisolone acetate Phase 1, Phase 2
32 Antineoplastic Agents, Alkylating Phase 1, Phase 2
33 Antirheumatic Agents Phase 1, Phase 2
34 Antineoplastic Agents, Hormonal Phase 1, Phase 2
35 Pharmaceutical Solutions Phase 1, Phase 2
36 glucocorticoids Phase 1, Phase 2
37 Hormones Phase 1, Phase 2
38 Antiemetics Phase 1, Phase 2
39 Alkylating Agents Phase 1, Phase 2
40 Anti-Inflammatory Agents Phase 1, Phase 2
41 Methylprednisolone acetate Phase 1, Phase 2
42 Neuroprotective Agents Phase 1, Phase 2
43 Antimetabolites Phase 1, Phase 2
44 Immunosuppressive Agents Phase 1, Phase 2
45 Immunologic Factors Phase 1, Phase 2
46 Antimetabolites, Antineoplastic Phase 1, Phase 2
47
Hydroxyurea Approved Phase 1 127-07-1 3657
48
Everolimus Approved Phase 1 159351-69-6 6442177
49
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
50
Ambrisentan Approved, Investigational Phase 1 177036-94-1 6918493

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 Not Applicable
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 Disease 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 29

Anatomical Context for Sickle Beta Thalassemia

MalaCards organs/tissues related to Sickle Beta Thalassemia:

41
Bone, Liver, Spleen, Bone Marrow

Publications for Sickle Beta Thalassemia

Articles related to Sickle Beta Thalassemia:

(show all 47)
# Title Authors Year
1
Chronic Administration of Hydroxyurea (HU) Benefits Caucasian Patients with Sickle-Beta Thalassemia. ( 29495591 )
2018
2
A Fatal Case of Necrotizing Pancreatitis in Sickle Cell Beta Thalassemia Zero. ( 30269722 )
2018
3
Bone Marrow Necrosis in Sickle Cell-Beta Thalassemia Patient Mimicking Thrombotic Thrombocytopenic Purpura. ( 30373875 )
2018
4
A Fatal Case of Necrotizing Pancreatitis in Sickle Cell Beta Thalassemia Zero. ( 30454513 )
2018
5
Prosthetic hip infection with Edwardsiella tarda in sickle cell beta thalassemia disease: A case report. ( 28018092 )
2016
6
Safety and efficacy of hydroxyurea in children and adolescents with sickle/beta-thalassemia: two-year experience. ( 27418768 )
2015
7
Frequency distribution of sickle cell anemia, sickle cell trait and sickle/beta-thalassemia among anemic patients in Saudi Arabia. ( 26604627 )
2015
8
Doppler Assessment of Renal Hemodynamic Alterations in Homozygous Sickle Cell Disease and Sickle Beta-Thalassemia. ( 25294847 )
2014
9
Cerebrovascular events in sickle cell-beta thalassemia treated with hydroxyurea: a single center prospective survey in adult Italians. ( 23828131 )
2013
10
Fusobacterium nucleatum prosthetic hip infection in an adult with sickle cell-beta thalassemia. ( 22002730 )
2012
11
Foam bezoar: resection of perforated terminal ileum in a 17-year-old with sickle β+ thalassemia and pica. ( 21763823 )
2011
12
Exposure to hydroxyurea during pregnancy in sickle-beta thalassemia: a report of 2 cases. ( 19797538 )
2010
13
Acute sickle hepatic crisis after liver transplantation in a patient with sickle beta-thalassemia. ( 20720482 )
2010
14
Fatal overdose due to prescription fentanyl patches in a patient with sickle cell/beta-thalassemia and acute chest syndrome: A case report and review of the literature. ( 19465816 )
2009
15
Cardiac involvement in sickle beta-thalassemia. ( 19107483 )
2009
16
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
17
Sickle-β(+) thalassemia with splenic calcification and bone marrow infarction: a case report. ( 23100939 )
2008
18
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
19
Early markers of renal dysfunction in patients with sickle cell/beta-thalassemia. ( 16501491 )
2006
20
Acute splenic sequestration crisis in an adult with sickle beta-thalassemia. ( 16705454 )
2006
21
Osteoporosis and osteosclerosis in sickle cell/beta-thalassemia: the role of the RANKL/osteoprotegerin axis. ( 16704959 )
2006
22
Isolated thrombocytopenia associated with hydroxyurea/deferiprone (L1) therapy in a sickle beta thalassemia patient. ( 16785128 )
2006
23
Fatal splenic sequestration crisis with multiorgan failure in an adult woman with sickle cell-beta+ thalassemia. ( 15767820 )
2005
24
Pheochromocytoma in a patient with sickle-beta-thalassemia. ( 16203603 )
2005
25
Should we screen Eastern Mediterranean sickle beta-thalassemia patients for inherited thrombophilia? ( 15748263 )
2005
26
Multi-organ failure associated with acute parvovirus infection and exercise in a patient with sickle beta thalassemia. ( 15586616 )
2004
27
Sickle beta-thalassemia presenting as orbital compression syndrome. ( 14986068 )
2004
28
Multiorgan failure during a sickle cell crisis in sickle/beta-thalassemia. ( 12900844 )
2003
29
Sudden unexpected death in a patient with splenic sequestration and sickle cell-beta+-thalassemia syndrome. ( 11305454 )
2001
30
Sickle-beta-thalassemia and splenic calcification. ( 11503099 )
2001
31
Exercise-induced myocardial perfusion abnormalities in sickle beta-thalassemia: Tc-99m tetrofosmin gated SPECT imaging study. ( 11583637 )
2001
32
Reduction of the clinical severity of sickle cell/beta-thalassemia with hydroxyurea: the experience of a single center in Greece. ( 11112383 )
2000
33
Preliminary results with administration of recombinant human erythropoietin in sickle cell/beta-thalassemia patients during pregnancy. ( 8641410 )
1996
34
Bacteremia in children with sickle hemoglobin C disease and sickle beta(+)-thalassemia: is prophylactic penicillin necessary? ( 7658261 )
1995
35
Fatal fat embolism in a patient with sickle-beta+ thalassemia. ( 7626384 )
1995
36
Pancytopenia caused by unsuspected pernicious anemia complicating sickle cell beta-thalassemia. ( 1738895 )
1992
37
Persistent generalized lymphadenopathy (transfusion-related) in an HIV-seropositive heterosexual man with sickle-cell beta-thalassemia. ( 2209816 )
1990
38
The effect of the beta thalassemia mutation on the clinical severity of the sickle beta thalassemia syndrome. ( 2507407 )
1989
39
Clinical and molecular correlations in the sickle/beta+-thalassemia syndrome. ( 3799593 )
1987
40
Splenic function in children with hemoglobin SC disease and sickle beta-thalassemia. ( 6644841 )
1983
41
Laryngeal edema associated with sickle beta-thalassemia disease. ( 7062551 )
1982
42
The hand-foot syndrome in sickle cell beta-thalassemia disease. ( 578226 )
1977
43
Joint effusions in sickle cell-beta-thalassemia disease. ( 1036549 )
1976
44
Symptomatic joint effusions in sickle cell-beta-thalassemia disease. Report of a case. ( 946491 )
1976
45
Sickle beta-thalassemia: identical twins differing in severity implicate nongenetic factors influencing course. ( 988745 )
1976
46
Roentgenographic and clinical appraisal of sickle cell beta-thalassemia disease. ( 4268239 )
1973
47
THE FIRST OBSERVATION OF HOMOZYGOUS HEMOGLOBIN S-ALPHA THALASSEMIA DISEASE AND TWO TYPES OF SICKLE CELL THALASSEMIA DISEASE: (A) SICKLE CELL-ALPHA THALASSEMIA DISEASE, (B) SICKLE CELL-BETA THALASSEMIA DISEASE. ( 14084634 )
1963

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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