Sickle Cell Disease Ontology Project

HBB, LEU68PHE

http://scdontology.h3abionet.org/ontology/SCDO_1000047

A mutation where the leusine residue in position 6 in the primary sequence of a beta-chain produced by the HBB gene is replaced by phenylalanine. This mutation on its own produces a stable hemoglobin that does not result in hemolysis (Hb Rockford), but when in combination with the Hb S mutation (HBB, GLU6VAL), the symptomatic Hb Jamaica Plain is produced.

Term info

curator note

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dc:creator

SCDO (Jade Hotchkiss)

definition source

http://omim.org/entry/141900#0524, Perrault, J., Fairbanks, V. F., McCormick, D. J., Kubik, K., Madden, B. J., Holmes, M. W., Hoyer, J. D. Hemoglobin Rockford, beta68(E12)leu-to-phe: a new HB variant associated with mild anemia. (Abstract) Blood 90 (Suppl. 1): 30b, 1997.

Contributing Hb Jamaica Plain Mutation