MCID: HMG027
MIFTS: 19

Hemoglobin C-Beta-Thalassemia Syndrome

Categories: Blood diseases, Rare diseases

Aliases & Classifications for Hemoglobin C-Beta-Thalassemia Syndrome

MalaCards integrated aliases for Hemoglobin C-Beta-Thalassemia Syndrome:

Name: Hemoglobin C-Beta-Thalassemia Syndrome 58
Hbc-Beta-Thalassemia Syndrome 58
C-Beta-Thalassemia 58

Characteristics:

Orphanet epidemiological data:

58
hemoglobin c-beta-thalassemia syndrome
Inheritance: Autosomal recessive;

Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

ICD10 via Orphanet 33 D58.2
Orphanet 58 ORPHA231242
SNOMED-CT via HPO 68 16294009 234349007

Summaries for Hemoglobin C-Beta-Thalassemia Syndrome

MalaCards based summary : Hemoglobin C-Beta-Thalassemia Syndrome, also known as hbc-beta-thalassemia syndrome, is related to beta-thalassemia and thalassemia. An important gene associated with Hemoglobin C-Beta-Thalassemia Syndrome is HBB (Hemoglobin Subunit Beta). The drugs Amodiaquine and Artesunate have been mentioned in the context of this disorder. Affiliated tissues include myeloid, and related phenotypes are splenomegaly and microcytic anemia

Related Diseases for Hemoglobin C-Beta-Thalassemia Syndrome

Diseases in the Hemoglobin E-Beta-Thalassemia Syndrome family:

Hemoglobin C-Beta-Thalassemia Syndrome

Diseases related to Hemoglobin C-Beta-Thalassemia Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 beta-thalassemia 10.6
2 thalassemia 10.6
3 sarcoidosis 1 10.0
4 alpha-thalassemia 10.0
5 hemoglobin c disease 10.0
6 hemoglobinopathy 10.0
7 hemolytic anemia 10.0
8 splenomegaly 10.0

Graphical network of the top 20 diseases related to Hemoglobin C-Beta-Thalassemia Syndrome:



Diseases related to Hemoglobin C-Beta-Thalassemia Syndrome

Symptoms & Phenotypes for Hemoglobin C-Beta-Thalassemia Syndrome

Human phenotypes related to Hemoglobin C-Beta-Thalassemia Syndrome:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001744
2 microcytic anemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001935
3 abnormal hemoglobin 58 31 hallmark (90%) Very frequent (99-80%) HP:0011902
4 anemia 58 Very frequent (99-80%)

Drugs & Therapeutics for Hemoglobin C-Beta-Thalassemia Syndrome

Drugs for Hemoglobin C-Beta-Thalassemia Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Amodiaquine Approved, Investigational 86-42-0 2165
2
Artesunate Approved, Investigational 88495-63-0 6917864 5464098

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Multidisciplinary Studies of Malaria Protection by Hemoglobinopathies and G6PD Deficiency in Mali Completed NCT00342043

Search NIH Clinical Center for Hemoglobin C-Beta-Thalassemia Syndrome

Genetic Tests for Hemoglobin C-Beta-Thalassemia Syndrome

Anatomical Context for Hemoglobin C-Beta-Thalassemia Syndrome

MalaCards organs/tissues related to Hemoglobin C-Beta-Thalassemia Syndrome:

40
Myeloid

Publications for Hemoglobin C-Beta-Thalassemia Syndrome

Articles related to Hemoglobin C-Beta-Thalassemia Syndrome:

(show all 24)
# Title Authors PMID Year
1
Unexpected discovery of hemoglobinopathy C/β° thalassemia. 61
30455903 2018
2
Hematological phenotype of the IVS-I-5 (G > C) beta-thalassemia mutation and assessment of Iran's national screening criteria. 61
18932068 2008
3
[Hemoglobin C disease: report of 16 Tunisian cases]. 61
17668575 2007
4
Fatal splenic rupture in a pregnant woman with hemoglobin C/beta-thalassemia and myeloid metaplasia. 61
16879031 2006
5
[Advantages in the use of high performance liquid chromatography technique for screening hemoglobinopathies in Venezuela]. 61
15602897 2004
6
Red cell osmotic fragility studies in hemoglobin C-beta thalassemia: osmotically resistant microspherocytes. 61
14641140 2003
7
Observation of the codon 27 (GCC-->TCC) delta-thalassemia allele in cis to the IVS-I-6 (T-->C) beta-thalassemia allele in a family from West Sicily. 61
11791882 2001
8
Haplotype analysis of the Mexican frameshift Cd 11 (-T) and -28 A->C beta-thalassemia alleles. 61
8619407 1996
9
Hemoglobin C/beta+ thalassemia and sarcoidosis. 61
7485093 1995
10
Severity of beta-thalassemia due to genotypes involving the IVS-I-6 (T-->C) mutation. 61
7668219 1995
11
Unbiased analysis of the frequency of beta-thalassemia point mutations in a population of African-American newborns. 61
8239931 1993
12
Detection of an IVS-1 3' end (G-C) beta-thalassemia mutation in the AG invariant dinucleotide of the acceptor splice site in a Sicilian subject. 61
1577489 1992
13
Molecular characterization of Hb S(C) beta-thalassemia in American blacks. 61
1897518 1991
14
Pregnancy complicated by hemoglobin CC and C-beta-thalassemia disease. 61
2381608 1990
15
[Hb C homozygosity and double Hb C/beta + thalassemia heterozygosity in a Spanish family]. 61
3660177 1987
16
Double heterozygosity for hemoglobins C and Lepore in an American black man. 61
3839385 1985
17
Identification and quantification of Hb C with an enzyme-linked immunosorbent assay. 61
3897143 1985
18
[Abnormal hemoglobins identified in Martinique]. 61
3991355 1985
19
High-performance liquid chromatography of human hemoglobins on a new cation exchanger. 61
6630348 1983
20
Further studies on the quantitation of the hemoglobins A, S, C, and F in newborn babies with different hemoglobinopathies using high pressure liquid chromatography. 61
6175601 1982
21
[Haemoglobinosis C/beta-thalassemia double heterozygosity in an Algerian patient with total suppression of haemoglobin A synthesis (author's transl)]. 61
670935 1978
22
Double heterozygosis for hemoglobin C-beta thalassemia: description of a Spanish family. Hemoglobin C-beta thalassemia in a Spanish family. 61
639336 1978
23
An automated method of differential red blood cell classification with application to the diagnosis of anemia. 61
330716 1977
24
[Hemoglobin C -- beta-thalassemia disease and homozygous beta-thalassemia in a black African family (author's transl)]. 61
128735 1975

Variations for Hemoglobin C-Beta-Thalassemia Syndrome

Expression for Hemoglobin C-Beta-Thalassemia Syndrome

Search GEO for disease gene expression data for Hemoglobin C-Beta-Thalassemia Syndrome.

Pathways for Hemoglobin C-Beta-Thalassemia Syndrome

GO Terms for Hemoglobin C-Beta-Thalassemia Syndrome

Sources for Hemoglobin C-Beta-Thalassemia Syndrome

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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