MCID: THL019
MIFTS: 8

Thalassemia, Beta+, Silent Allele

Categories: Blood diseases

Aliases & Classifications for Thalassemia, Beta+, Silent Allele

MalaCards integrated aliases for Thalassemia, Beta+, Silent Allele:

Name: Thalassemia, Beta+, Silent Allele 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
thalassemia, beta+, silent allele:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 187550
MedGen 41 C1861232
SNOMED-CT via HPO 68 263681008

Summaries for Thalassemia, Beta+, Silent Allele

MalaCards based summary : Thalassemia, Beta+, Silent Allele Related phenotype is reduced beta/alpha synthesis ratio.

More information from OMIM: 187550

Related Diseases for Thalassemia, Beta+, Silent Allele

Symptoms & Phenotypes for Thalassemia, Beta+, Silent Allele

Human phenotypes related to Thalassemia, Beta+, Silent Allele:

31
# Description HPO Frequency HPO Source Accession
1 reduced beta/alpha synthesis ratio 31 HP:0011906

Symptoms via clinical synopsis from OMIM:

56
Heme:
beta-thalassemia silent carrier allele

Lab:
decreased beta/alpha globin synthesis ratio in peripheral erythroid cells
rbc features of heterozygous beta-thalassemia lacking

Clinical features from OMIM:

187550

Drugs & Therapeutics for Thalassemia, Beta+, Silent Allele

Search Clinical Trials , NIH Clinical Center for Thalassemia, Beta+, Silent Allele

Genetic Tests for Thalassemia, Beta+, Silent Allele

Anatomical Context for Thalassemia, Beta+, Silent Allele

Publications for Thalassemia, Beta+, Silent Allele

Articles related to Thalassemia, Beta+, Silent Allele:

# Title Authors PMID Year
1
Beta-thalassemia unlinked to the beta-globin gene in an English family. 56
8101733 1993
2
Overview of the beta thalassemias: genetic and clinical aspects. 56
2463234 1988
3
The silent carrier allele: beta thalassemia without a mutation in the beta-globin gene or its immediate flanking regions. 56
6091904 1984
4
Specific factor conferring nuclease hypersensitivity at the 5' end of the chicken adult beta-globin gene. 56
6320177 1984
5
A gene controlling fetal hemoglobin expression in adults is not linked to the non-alpha globin cluster. 56
6196196 1983
6
Linkage analysis of nondeletion hereditary persistence of fetal hemoglobin. 56
6186021 1982

Variations for Thalassemia, Beta+, Silent Allele

Expression for Thalassemia, Beta+, Silent Allele

Search GEO for disease gene expression data for Thalassemia, Beta+, Silent Allele.

Pathways for Thalassemia, Beta+, Silent Allele

GO Terms for Thalassemia, Beta+, Silent Allele

Sources for Thalassemia, Beta+, Silent Allele

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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