Sickle Cell Disease Ontology Project

Hemoglobin Quebec Chori

http://scdontology.h3abionet.org/ontology/SCDO_1000085

An abnormal hemoglobin in which a threonine is replaced by an isoleucine residue at the eighty-seventh position of beta chains. It migrates like HbA but promotes sickling.

Term info

curator note

Suggest update to description in MESH (the term in MESH doesn't currently have a description). Also request inclusion in the HPO, below "Abnormal Hemoglobin", for the sake of completion.

dc:source

http://purl.bioontology.org/ontology/MESH/C070823, http://ac.els-cdn.com/S014067361061029X/1-s2.0-S014067361061029X-main.pdf?_tid=691c25c0-5826-11e7-b704-00000aacb35e&acdnat=1498230953_4d1264c47385275daf8fc2a1e1de62e3

definition source

Witkowska, H.E., Lubin, B.H., Beuzard, Y., Baruchel, S., Esseltine, D.W., Vichinsky, E.P. et al. Sickle cell disease in a patient with sickle cell trait and compound heterozygosity for hemoglobin S and hemoglobin Quebec-Chori. N Engl J Med. 1991; 325: 1150–1154, https://allaboutblood.com/2012/05/14/sickle-haemoglobin-and-varients/

existence in other ontologies

Suggest update to description

Hb Quebec-Chori