Sickle Cell Disease Ontology Project

Alpha Thalassemia

http://scdontology.h3abionet.org/ontology/SCDO_0000042


A disorder characterized by reduced synthesis of the alpha chains of hemoglobin. The severity of this condition can vary from mild anemia to death, depending on the number of genes deleted. A hemoglobinopathy with two clinically significant forms: hemoglobin Bart hydrops fetalis (deletion of all 4 alpha-globin genes; --/--) which is severe and often results in neonatal death; and hemoglobin H disease (most commonly caused by deletion of 3 alpha-globin genes; --/-alpha) which results in hemolytic anemia, splenomegaly and bone changes.

Term info

database cross reference
  • DOID:1099
  • MeSH:D017085
curator note

Curation completed by the SCDO curator team: Clair.

database cross reference

DOID:1099, MeSH:D017085

definition source

Origa R, Moi P. Alpha-Thalassemia. 2005 Nov 1 [Updated 2016 Dec 29]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1435/, http://purl.bioontology.org/ontology/MESH/D017085

Thalassemia Alpha, A-Thalassemia, Alpha-Thalassemia