Thalassemia, Hispanic Gamma-Delta-Beta malady
Categories: Genetic diseases, Rare diseases, Immune diseases, Blood diseases, Nephrological diseases, Endocrine diseases
49OMIM, 11diseasecard, 45NIH Rare Diseases, 10Disease Ontology, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 67UniProtKB/Swiss-Prot, 65UMLS, 68Wikipedia, 21GeneReviews, 47Novoseek, 51Orphanet, 36MeSH, 2CDC, 24GTR, 27ICD10, 29ICD9CM, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen
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Aliases & Descriptions for Thalassemia, Hispanic Gamma-Delta-Beta:
Orphanet epidemiological data:51
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Worldwide),1-9/1000000 (France),1-5/10000 (Europe); Age of onset: Childhood,Infancy; Age of death: adult
Inheritance: Autosomal recessive; Age of onset: Childhood
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal
Global: Genetic diseases, Rare diseases
Anatomical: Immune diseases, Blood diseases, Nephrological diseases, Endocrine diseases
ICD10: 28 27
OMIM:49 Beta-thalassemia is characterized by a reduced production of hemoglobin A (HbA, alpha-2/beta-2), which results from the... (613985) more...
MalaCards based summary: Thalassemia, Hispanic Gamma-Delta-Beta, also known as beta-thalassemia, is related to thalassemia-beta, dominant inclusion-body and porphyria cutanea tarda, and has symptoms including pallor, splenomegaly and hypersplenism. An important gene associated with Thalassemia, Hispanic Gamma-Delta-Beta is HBB (Hemoglobin Subunit Beta), and among its related pathways are HIF-1 signaling pathway and HIF-1-alpha transcription factor network. The drug sodium phenylbutyrate has been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and liver, and related mouse phenotypes are liver/biliary system and hematopoietic system.
Disease Ontology:10 A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin.
NIH Rare Diseases:45 Beta-thalassemia is a blood disorder that reduces the body's production of hemoglobin. low levels of hemoglobin lead to a shortage of mature red blood cells and a lack of oxygen in the body. affected people have anemia, which can cause paleness, weakness, fatigue, and more serious complications. severe beta-thalassemia is called “thalassemia major” or “cooley’s anemia.” thalassemia intermedia is a less severe form. beta-thalassemia is caused by mutations in the hbb gene and is usually inherited in an autosomal recessive manner. people who have only one hbb gene mutation may have no symptoms or develop mild symptoms, and are said to have thalassemia minor. treatment depends on the severity in each person and may include transfusions, folic acid supplementation, iron chelation, and/or bone marrow transplantation (the only definitive cure). last updated: 7/29/2015
UniProtKB/Swiss-Prot:67 Beta-thalassemia: A form of thalassemia. Thalassemias are common monogenic diseases occurring mostly in Mediterranean and Southeast Asian populations. The hallmark of beta-thalassemia is an imbalance in globin-chain production in the adult HbA molecule. Absence of beta chain causes beta(0)-thalassemia, while reduced amounts of detectable beta globin causes beta(+)-thalassemia. In the severe forms of beta-thalassemia, the excess alpha globin chains accumulate in the developing erythroid precursors in the marrow. Their deposition leads to a vast increase in erythroid apoptosis that in turn causes ineffective erythropoiesis and severe microcytic hypochromic anemia. Clinically, beta-thalassemia is divided into thalassemia major which is transfusion dependent, thalassemia intermedia (of intermediate severity), and thalassemia minor that is asymptomatic.
CDC:2 Thalassemia is an inherited (i.e., passed from parents to children through genes) blood disorder caused when the body doesn’t make enough of a protein called hemoglobin, an important part of red blood cells. Thalassemia is a treatable disorder that can be well-managed with blood transfusions and chelation therapy. It is important for people with thalassemia to learn how to stay healthy.
Genetics Home Reference:23 Beta thalassemia is a blood disorder that reduces the production of hemoglobin. Hemoglobin is the iron-containing protein in red blood cells that carries oxygen to cells throughout the body.
GeneReviews summary for NBK1426
Clinical features from OMIM:613985
Symptoms:51 (show all 52)
HPO human phenotypes related to Thalassemia, Hispanic Gamma-Delta-Beta:(show all 47)
Drugs for Thalassemia, Hispanic Gamma-Delta-Beta (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show top 50) (show all 179)
Interventional clinical trials:(show top 50) (show all 161)
Search NIH Clinical Center for Thalassemia, Hispanic Gamma-Delta-Beta
Inferred drug relations via UMLS65/NDF-RT43:
MalaCards organs/tissues related to Thalassemia, Hispanic Gamma-Delta-Beta:33
Bone, Bone marrow, Liver, Heart, Skin, Testes, Lung
UniProtKB/Swiss-Prot genetic disease variations for Thalassemia, Hispanic Gamma-Delta-Beta:67
Clinvar genetic disease variations for Thalassemia, Hispanic Gamma-Delta-Beta:5 (show all 40)
Search GEO for disease gene expression data for Thalassemia, Hispanic Gamma-Delta-Beta.
Pathways related to Thalassemia, Hispanic Gamma-Delta-Beta according to GeneCards Suite gene sharing:
Cellular components related to Thalassemia, Hispanic Gamma-Delta-Beta according to GeneCards Suite gene sharing:
Biological processes related to Thalassemia, Hispanic Gamma-Delta-Beta according to GeneCards Suite gene sharing:(show all 8)
Molecular functions related to Thalassemia, Hispanic Gamma-Delta-Beta according to GeneCards Suite gene sharing:
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet