Thalassemia, Hispanic Gamma-Delta-Beta malady
Genetic diseases, Rare diseases, Immune diseases, Blood diseases, Nephrological diseases categories
Aliases & Descriptions for Thalassemia, Hispanic Gamma-Delta-Beta:
MalaCards categories: See all MalaCards categories (disease lists)
Global: Genetic diseases, Rare diseases
Anatomical: Immune diseases, Blood diseases, Nephrological diseases
ICD10: 26 25
Characteristics (Orphanet epidemiological data):48
Inheritance: Autosomal recessive; Age of onset: Childhood
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal
OMIM:46 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 mediterranean anemia, is related to thalassemia and hemoglobin e - beta-thalassemia, and has symptoms including pallor, microcytic anemia and hypersplenism. An important gene associated with Thalassemia, Hispanic Gamma-Delta-Beta is LCRB (locus control region, beta). The drug sodium phenylbutyrate has been mentioned in the context of this disorder. Affiliated tissues include bone, liver and bone marrow.
Disease Ontology:8 A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin.
NIH Rare Diseases:42 Beta-thalassemia is a blood disorder that reduces the production of hemoglobin. without sufficient hemoglobin, red blood cells do not develop normally, causing a shortage of mature red blood cells, leading to anemia and other health problems. severe beta-thalassemia is called “thalassemia major” or “cooley’s anemia.” thalassemia intermedia is the less severe form. mutations in the hbb gene cause beta-thalassemia. this condition is usually inherited in an autosomal recessive fashion, which means people with beta thalassemia have mutations in both of their hbb genes. people who have only one hbb mutation may have no symptoms or develop mild symptoms; these individuals are said to have thalassemia minor. last updated: 7/7/2011
Genetics Home Reference:21 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 b-thal
Clinical features from OMIM:613985
Symptoms:48 (show all 50)
HPO human phenotypes related to Thalassemia, Hispanic Gamma-Delta-Beta:(show all 50)
Genetic tests related to Thalassemia, Hispanic Gamma-Delta-Beta:
MalaCards organs/tissues related to Thalassemia, Hispanic Gamma-Delta-Beta:31
Bone, Liver, Bone marrow, Skin, Lung
UniProtKB/Swiss-Prot genetic disease variations for Thalassemia, Hispanic Gamma-Delta-Beta:63
Clinvar genetic disease variations for Thalassemia, Hispanic Gamma-Delta-Beta:5 (show all 29)
Search GEO for disease gene expression data for Thalassemia, Hispanic Gamma-Delta-Beta.
26ICD10 via Orphanet
34MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet