causes or contributes to condition contributes to genotype causes or contributes to molecular phenotype Other HBB Variants HBB, THR87ILE SCDO (Jade Hotchkiss) Witkowska, H. E., Lubin, B. H., Beuzard, Y., Baruchel, S., Esseltine, D. W., Vichinsky, E. P., Kleman, K. M., Bardakdjian-Michau, J., Pinkoski, L., Cahn, S., Roitman, E., Green, B. N., Falick, A. M., Shackleton, C. H. L. Sickle cell disease in a patient with sickle cell trait and compound heterozygosity for hemoglobin S and hemoglobin Quebec-Chori. New Eng. J. Med. 325: 1150-1154, 1991. Request inclusion into relevant ontology Negligable Hb Quebec-Chori Mutation A mutation where the threonine in position 87 in the primary sequence of a beta-chain produced by the HBB gene is replaced by isoleucine. This mutation is found as a single alteration in Hemoglobin Quebec-Chori. Compound heterozygosity for Hb Quebec-chori and Hb S results in sickle cell disease. Hemoglobin Genotype S/Quebec-Chori Hemoglobin Quebec Chori Sickle Cell Disease-S/Quebec Chori