MCID: SCK034
MIFTS: 24

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 20
Sickle Cell-Beta-Thalassemia Disease Syndrome 20 58
Hbs-Beta-Thalassemia Syndrome 20 58
Sickle Cell-Beta-Thalassemia 29 70
Sickle Cell - Beta-Thalassemia Disease 20
Hemoglobin Sickle-Beta Thalassemia 20
Sickle Cell-Beta^+^-Thalassemia 70
Hbs - Beta-Thalassemia 20
Hb S Beta-Thalassemia 20

Characteristics:

Orphanet epidemiological data:

58
sickle cell-beta-thalassemia disease syndrome
Inheritance: Autosomal recessive; Age of onset: All ages;

Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

ICD10 via Orphanet 33 D57.2
UMLS via Orphanet 71 C0221019 C0857812
Orphanet 58 ORPHA251359
UMLS 70 C0221019 C0857812

Summaries for Sickle Beta Thalassemia

GARD : 20 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 Panobinostat and Histone Deacetylase Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include bone marrow.

Wikipedia : 73 Sickle cell-beta thalassemia is an inherited blood disorder. The disease may range in severity from... 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 47)
# Related Disease Score Top Affiliating Genes
1 beta-thalassemia 10.7
2 thalassemia 10.7
3 sickle cell disease 10.5
4 beta-thalassemia major 10.4
5 sickle cell anemia 10.2
6 acute chest syndrome 10.2
7 splenic sequestration 10.1
8 hemoglobinopathy 10.1
9 hemosiderosis 10.1
10 liver cirrhosis 10.1
11 rare hereditary hemochromatosis 10.1
12 osteonecrosis 10.1
13 osteomyelitis 10.1
14 endosteal hyperostosis, autosomal dominant 10.1
15 osteoporosis 10.1
16 pernicious anemia 10.1
17 bone mineral density quantitative trait locus 8 10.1
18 bone mineral density quantitative trait locus 15 10.1
19 proteinuria, chronic benign 10.1
20 metabolic acidosis 10.1
21 persistent generalized lymphadenopathy 10.1
22 bone resorption disease 10.1
23 beta-thalassemia intermedia 10.1
24 urinary tract infection 10.1
25 acute asthma 10.1
26 thrombotic thrombocytopenic purpura 10.1
27 pancytopenia 10.1
28 cholestasis 10.1
29 renal tubular acidosis 10.1
30 purpura 10.1
31 pancreatitis 10.1
32 cerebrovascular disease 10.1
33 bone marrow necrosis 10.1
34 distal renal tubular acidosis 10.1
35 splenomegaly 10.1
36 pheochromocytoma 10.0
37 alpha-thalassemia 10.0
38 deficiency anemia 10.0
39 pulmonary hypertension 10.0
40 adrenal gland pheochromocytoma 10.0
41 thrombocytopenia 10.0
42 thrombophilia 10.0
43 hemoglobin c disease 10.0
44 acute kidney failure 10.0
45 macular retinal edema 10.0
46 congestive heart failure 10.0
47 exophthalmos 10.0

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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Panobinostat Approved, Investigational Phase 1 404950-80-7 6918837
2 Histone Deacetylase Inhibitors Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase I Study to Determine the Safety and Tolerability of Escalating Doses of Panobinostat (LBH589) in Patients With Sickle Cell Disease Active, not recruiting NCT01245179 Phase 1 panobinostat
2 Prevalence Of Microalbuminuria Among Children Suffering From Sickle Cell Nephropathy and Sickle Cell/Beta-Thalassemia Unknown status NCT01092169

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:

40
Bone Marrow

Publications for Sickle Beta Thalassemia

Articles related to Sickle Beta Thalassemia:

(show top 50) (show all 84)
# Title Authors PMID Year
1
The Dilemma of Diagnosing Hemophagocytic Lymphohistiocytosis in Sickle Cell Disease. 61
33510976 2020
2
Unmasking hypertension in children and adolescents with sickle/beta-thalassemia. 61
32762124 2020
3
The role of hydroxyurea in decreasing the occurrence of vasso-occulusive crisis in pediatric patients with sickle cell disease at King Saud Medical City in Riyadh, Saudi Arabia. 61
31915794 2020
4
Effect of donor type and conditioning regimen intensity on allogeneic transplantation outcomes in patients with sickle cell disease: a retrospective multicentre, cohort study. 61
31495699 2019
5
Successful Treatment of Acute Chest Syndrome with Manual Exchange Transfusion in a Patient with Sickle Beta+-thalassemia. 61
30713307 2019
6
Heparin Resistance due to an Acquired Antithrombin Deficiency in a Patient With Sickle Cell Disease During a Pregnancy Complicated by Bilateral Pulmonary Emboli: A Case Report. 61
31048599 2019
7
Chronic Administration of Hydroxyurea (HU) Benefits Caucasian Patients with Sickle-Beta Thalassemia. 61
29495591 2018
8
The survival rate of patients with beta-thalassemia major and intermedia and its trends in recent years in Iran. 61
30336663 2018
9
Cholelithiasis and its complications in sickle cell disease in a university hospital. 61
28270342 2017
10
Frequency distribution of sickle cell anemia, sickle cell trait and sickle/beta-thalassemia among anemic patients in Saudi Arabia. 61
26604627 2015
11
Doppler assessment of renal hemodynamic alterations in homozygous sickle cell disease and sickle Beta-thalassemia. 61
25294847 2015
12
Safety and efficacy of hydroxyurea in children and adolescents with sickle/beta-thalassemia: two-year experience. 61
27418768 2015
13
Prevalence of factor V Leiden G1691A, MTHFR C677T, and prothrombin G20210A among Asian Indian sickle cell patients. 61
22084413 2012
14
Modulating Effect of the -158 γ (C→T) Xmn1 Polymorphism in Indian Sickle Cell Patients. 61
22348183 2012
15
Acute sickle hepatic crisis after liver transplantation in a patient with sickle beta-thalassemia. 61
20720482 2010
16
Exposure to hydroxyurea during pregnancy in sickle-beta thalassemia: a report of 2 cases. 61
19797538 2010
17
The relationship between the type of mutation in the globin gene and the type and severity of sickle/beta-thalassemia disease in Jordanian patients. 61
19618018 2009
18
Cardiac involvement in sickle beta-thalassemia. 61
19107483 2009
19
Hydroxyurea in sickle cell disease--a study of clinico-pharmacological efficacy in the Indian haplotype. 61
18954999 2009
20
Fever of unclear origin and cytopenia because of acute splenic sequestration in a young immunocompetent carrier of beta-globin mutation for Hb Valletta. 61
19092326 2008
21
Thrombophilic mutations among Southern Iranian patients with sickle cell disease: high prevalence of factor V Leiden. 61
17619828 2008
22
Sickle cell disease: the Lebanese experience. 61
17988293 2007
23
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. 61
18004938 2007
24
Hemoglobin e syndromes. 61
18024613 2007
25
Indications and complications of splenectomy for children with sickle cell disease. 61
17101369 2006
26
Screening for inherited thrombophilia might be warranted among Eastern Mediterranean sickle-beta-0 thalassemia patients. 61
17008978 2006
27
Acute splenic sequestration crisis in an adult with sickle beta-thalassemia. 61
16705454 2006
28
Combination erythropoietin-hydroxyurea therapy in sickle cell disease: experience from the National Institutes of Health and a literature review. 61
16885048 2006
29
Isolated thrombocytopenia associated with hydroxyurea/deferiprone (L1) therapy in a sickle beta thalassemia patient. 61
16785128 2006
30
Plasma lipids in Iranians with sickle cell disease: hypocholesterolemia in sickle cell anemia and increase of HDL-cholesterol in sickle cell trait. 61
16185676 2006
31
Pheochromocytoma in a patient with sickle-beta-thalassemia. 61
16203603 2005
32
Should we screen Eastern Mediterranean sickle beta-thalassemia patients for inherited thrombophilia? 61
15748263 2005
33
Thalassemia and learning: Neurocognitive functioning in children. 61
16339676 2005
34
Multi-organ failure associated with acute parvovirus infection and exercise in a patient with sickle beta thalassemia. 61
15586616 2004
35
Sickle cell crisis associated with hemophagocytic lymphohistiocytosis. 61
15495257 2004
36
Sickle beta-thalassemia presenting as orbital compression syndrome. 61
14986068 2004
37
Survival of children with sickle cell disease. 61
14764527 2004
38
Central nervous system abnormalities in asymptomatic young patients with Sbeta-thalassemia. 61
15174017 2004
39
Sustained long-term hematologic efficacy of hydroxyurea at maximum tolerated dose in children with sickle cell disease. 61
14630791 2004
40
Antierythropoietin antibodies in thalassemia patients. 61
14530877 2004
41
Hepatitis C virus in sickle cell disease. 61
14620705 2003
42
The effect of hydroxyurea on the coagulation system in sickle cell anemia and beta-thalassemia intermedia patients: a preliminary study. 61
14631615 2003
43
Multiorgan failure during a sickle cell crisis in sickle/beta-thalassemia. 61
12900844 2003
44
An unusual etiology of hypertension in a 5-year-old boy. 61
12172767 2002
45
Exercise-induced myocardial perfusion abnormalities in sickle beta-thalassemia: Tc-99m tetrofosmin gated SPECT imaging study. 61
11583637 2001
46
Sickle-beta-thalassemia and splenic calcification. 61
11503099 2001
47
Effect of alpha-globin genotype on the pathophysiology of sickle cell disease. 61
12673836 2001
48
Beta s gene in Central Iran is in linkage disequilibrium with the Indian-Arab haplotype. 61
11074534 2000
49
Chromatographic measurements of hemoglobin A2 in blood samples that contain sickle hemoglobin. 61
10807164 2000
50
Splenic complications of the sickling syndromes and the role of splenectomy. 61
10524454 1999

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
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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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