MCID: HMG022
MIFTS: 19

Hemoglobin C - Beta-Thalassemia malady

Blood category

Summaries for Hemoglobin C - Beta-Thalassemia

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MalaCards: Hemoglobin C - Beta-Thalassemia, is also known as thalassemia-hemoglobin c disease, and has symptoms including splenomegaly, anaemia and microcytic anemia. An important gene associated with Hemoglobin C - Beta-Thalassemia is HBB (hemoglobin, beta). Affiliated tissues include spinal cord, bone marrow and colon.

Aliases & Classifications for Hemoglobin C - Beta-Thalassemia

Sources:
49Orphanet, 61UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Blood


Characteristics (Orphanet epidemiological data):

49
hemoglobin c - beta-thalassemia:
Inheritance: Autosomal recessive


Aliases & Descriptions:

hemoglobin c - beta-thalassemia 49
thalassemia-hemoglobin c disease 61
hbc - beta-thalassemia 49
c- beta-thalassemia 49


External Ids:

ICD10 via Orphanet26 D58.2

Related Diseases for Hemoglobin C - Beta-Thalassemia

Clinical Features for Hemoglobin C - Beta-Thalassemia

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49Orphanet
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Symptoms:

49 (see all 4)
  • splenomegaly
  • anaemia
  • microcytic anemia
  • hemoglobinosis/hemoglobinopathy

Drugs & Therapeutics for Hemoglobin C - Beta-Thalassemia

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5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Hemoglobin C - Beta-Thalassemia

Anatomical Context for Hemoglobin C - Beta-Thalassemia

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33MalaCards
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MalaCards organs/tissues related to Hemoglobin C - Beta-Thalassemia:

33
Spinal cord, Bone marrow, Colon, T cells, B cells

Animal Models for Hemoglobin C - Beta-Thalassemia or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Hemoglobin C - Beta-Thalassemia

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51PubMed
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Articles related to Hemoglobin C - Beta-Thalassemia:

(show top 50)    (show all 85)
idTitleAuthorsYear
1
Pseudoxanthoma elasticum-like lesions in beta-thalassemia/hemoglobin E patient: a case report. (23414363)
2013
2
Erythrocytosis due to a combination of the high oxygen affinity hemoglobin variant, Hb Olympia [beta20(B2)Val-->Met] with beta- and alpha-thalassemia mutations: first case in the literature. (20642336)
2010
3
Analysis of alpha-hemoglobin-stabilizing protein (AHSP) gene as a genetic modifier to the phenotype of beta-thalassemia in Southern China. (20627634)
2010
4
Drug metabolizing enzyme CYP1A2 status in pediatric patients with hemoglobin E-beta thalassemia. (20043572)
2009
5
Fetal Hemoglobin Inducers from the Natural World: A Novel Approach for Identification of Drugs for the Treatment of {beta}-Thalassemia and Sickle-Cell Anemia. (18955291)
2009
6
Treatment with hydroxyurea in a patient compound heterozygote for a high oxygen affinity hemoglobin and beta-thalassemia minor. (19787797)
2009
7
Sensitivity and specificity of mean corpuscular hemoglobin (MCH): for screening alpha-thalassemia-1 trait and beta-thalassemia trait. (19530577)
2009
8
A case of Moyamoya syndrome and hemoglobin E/beta-thalassemia. (19003908)
2009
9
Compound heterozygosity for the Cretan type of non-deletional hereditary persistence of fetal hemoglobin and beta-thalassemia or Hb Sabine confirms the functional role of the Agamma -158 C>T mutation in gamma-globin gene transcription. (18718799)
2008
10
Hemoglobin-E beta thalassemia presenting with recurrent priapism--a rare complication. (18058996)
2008
11
Glycemic monitoring in diabetics with sickle cell plus beta-thalassemia hemoglobinopathy. (16076916)
2005
12
Two beta-globin cluster-linked polymorphic loci in thalassemia patients of variable levels of fetal hemoglobin. (15946310)
2005
13
Identification of a new delta chain hemoglobin variant in a beta- thalassemia carrier: Hb A2-mumc [delta13(a10)Ala-->Asp]. (16370490)
2005
14
Allogeneic peripheral blood stem cell transplantation in children with homozygous beta-thalassemia and severe beta-thalassemia/hemoglobin E disease. (15087953)
2004
15
In vivo platelet activation and hyperaggregation in hemoglobin E/beta-thalassemia: a consequence of splenectomy. (12731676)
2003
16
First report of osteonecrosis of the calcaneum in a young Kuwaity female with hemoglobin E/beta thalassemia. (12942709)
2003
17
Hemin: a possible cause of oxidative stress in blood circulation of beta-thalassemia/hemoglobin E disease. (12653201)
2003
18
A comparative study of Greek nondeletional hereditary persistence of fetal hemoglobin and beta-thalassemia compound heterozygotes. (11976733)
2002
19
Prenatal diagnosis of beta-thalassemia major by high-performance liquid chromatography analysis of hemoglobins in fetal blood samples. (11300346)
2001
20
Molecular characterization of (deltabeta)(0)/beta(0)-thalassemia and (deltabeta)(0)-thalassemia/hemoglobin E in Thai patients. (11860449)
2001
21
Thalassemia intermedia and extramedullary hematopoiesis associated with compound heterozygosity for the 532 bp deletion of the beta-globin gene and gene deletion hereditary persistence of fetal hemoglobin. (11300354)
2001
22
Clinical and hematologic aspects of hemoglobin E beta-thalassemia. (10698297)
2000
23
Iron overload and iron-chelating therapy in hemoglobin E-beta thalassemia. (11132236)
2000
24
Clinical manifestation of beta-thalassemia/hemoglobin E disease. (11132229)
2000
25
Deletion of a region that is a candidate for the difference between the deletion forms of hereditary persistence of fetal hemoglobin and deltabeta-thalassemia affects beta- but not gamma-globin gene expression. (10022837)
1999
26
Red cell parameters in alpha-thalassemia with and without beta-thalassemia trait or hemoglobin E trait. (9640607)
1997
27
Difference in pattern of erythropoietin response between beta-thalassemia/hemoglobin E children and adults. (9640615)
1997
28
Fatal fat embolism syndrome in a child with undiagnosed hemoglobin S/beta+ thalassemia: a complication of acute parvovirus B19 infection. (8963632)
1996
29
Risk of infection in children with hemoglobin S-beta-thalassemia. (7562304)
1995
30
Life-threatening infection in two children with hemoglobin S-beta-thalassemia. (7699536)
1995
31
Efficacy and safety of oral iron chelating agent deferiprone in beta-thalassemia and hemoglobin E-beta thalassemia. (8635827)
1995
32
Genotype of subjects with borderline hemoglobin A2 levels: implication for beta-thalassemia carrier screening. (8172199)
1994
33
Combined radiotherapeutic and surgical management of a spinal cord compression by extramedullary hematopoiesis in a patient with hemoglobin E beta-thalassemia. (8091937)
1994
34
A novel deletion of approximately 27 kb including the beta-globin gene and the locus control region 3'HS-1 regulatory sequence: beta zero-thalassemia or hereditary persistence of fetal hemoglobin? (7507736)
1994
35
Rapid detection of deletions causing delta beta thalassemia and hereditary persistence of fetal hemoglobin by enzymatic amplification. (7510147)
1994
36
Hydroxyurea increases fetal hemoglobin in cultured erythroid cells derived from normal individuals and patients with sickle cell anemia or beta-thalassemia. (7680923)
1993
37
A family case of beta-thalassemia minor and hemoglobin Queens: alpha 34 (B15) Leu-Arg. (1299245)
1992
38
Increase in spontaneous platelet aggregation in beta-thalassemia/hemoglobin E disease: a consequence of splenectomy. (1298991)
1992
39
Interaction of two different disorders in the beta-globin gene cluster associated with an increased hemoglobin F production: a novel deletion type of (G) gamma + ((A) gamma delta beta)(0)-thalassemia and a delta(0)-hereditary persistence of fetal hemoglobin determinant. (1704267)
1991
40
Cardiac involvement in beta-thalassemia/hemoglobin E disease: clinical and hemodynamic findings. (2237594)
1990
41
Cerebral thrombosis in beta-thalassemia/hemoglobin E disease. (2339462)
1990
42
Down syndrome complicated by hemoglobin S/beta+ thalassemia. Atypical expression of coexistent disease. (2141809)
1990
43
Sickle cell hemoglobin, beta-thalassemia and G6PD deficiency in tribes of Maharashtra, India. (2129613)
1990
44
A frequent A gamma-hereditary persistence of fetal hemoglobin in northern Sardinia: its molecular basis and hematologic phenotype in heterozygotes and compound heterozygotes with beta-thalassemia. (2452784)
1988
45
Fetal hemoglobin synthesis in erythroid cultures in hereditary persistence of fetal hemoglobin and beta o-thalassemia. (6202341)
1984
46
Heterocellular hereditary persistence of fetal hemoglobin (HPFH). Molecular mechanisms of abnormal gamma-gene expression in association with beta thalassemia and linkage relationship with the beta-globin gene cluster. (6201431)
1984
47
Molecular comparison of delta beta-thalassemia and hereditary persistence of fetal hemoglobin DNAs: evidence of a regulatory area? (6179097)
1982
48
Zinc and copper status in hemoglobin H disease and beta-thalassemia/hemoglobin E disease. (6817576)
1982
49
Biosynthetic studies and gamma-chain composition in the Greek type of hereditary persistence of fetal hemoglobin and in its association with beta-thalassemia. (111454)
1979
50
Hereditary persistence of fetal hemoglobin and beta-thalassemia in a Turkish child. (4200806)
1973

Genetic Variations for Hemoglobin C - Beta-Thalassemia

Expression for genes affiliated with Hemoglobin C - Beta-Thalassemia

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hemoglobin C - Beta-Thalassemia

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Pathways for genes affiliated with Hemoglobin C - Beta-Thalassemia

Compounds for genes affiliated with Hemoglobin C - Beta-Thalassemia

GO Terms for genes affiliated with Hemoglobin C - Beta-Thalassemia

Products for genes affiliated with Hemoglobin C - Beta-Thalassemia

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Sources for Hemoglobin C - Beta-Thalassemia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet