Sickle Cell Disease Ontology Project

Hemoglobin Genotype S/Quebec-Chori

http://scdontology.h3abionet.org/ontology/SCDO_1000084

A compound heterozygous genotype, involving the mutations for Hemoglobin S and Hemoglobin Quebec Chori, which shows an electrophoretic pattern similar to that of the Hb A/S Genotype, but shows sickling.

Term info

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SCDO

definition source

Pediatr Blood Cancer. 2007 Aug;49(2):207-10.

Haemoglobin Genotype S/Quebec-Chori, S/Quebec-Chori Genotype, beta6Glu>Val/beta87Thr>Ile