thalassemia intermedia

GPTKB entity

Statements (26)
Predicate Object
gptkbp:instanceOf genetic disorder
blood disorder
gptkbp:affects hemoglobin production
gptkbp:causedBy mutations in HBB gene
gptkbp:complication pulmonary hypertension
gallstones
iron overload
leg ulcers
gptkbp:diagnosedBy blood tests
hemoglobin electrophoresis
gptkbp:firstDescribed mid-20th century
https://www.w3.org/2000/01/rdf-schema#label thalassemia intermedia
gptkbp:inheritance autosomal recessive
gptkbp:partOf thalassemia syndromes
gptkbp:prevalence higher in Mediterranean, Middle Eastern, and South Asian populations
gptkbp:symptom jaundice
splenomegaly
bone deformities
delayed growth
mild to moderate anemia
gptkbp:treatment gptkb:splenectomy
blood transfusions
folic acid supplementation
iron chelation therapy
gptkbp:bfsParent gptkb:anemia
gptkbp:bfsLayer 5