Sickle Cell Disease Ontology Project

Hemoglobin Lepore Boston Disease

http://scdontology.h3abionet.org/ontology/SCDO_0000536


A variant of Hemoglobin Lepore Syndrome. Crossover occurs between glutamine at position 87 of delta chain and histidine at position 116 of beta chain. It is associated with unusual high levels of Hb F. This is the only one of the three variants of described in association with HbS.

Term info

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definition source

http://en.wikipedia.org/wiki/Hemoglobin_Lepore_syndrome, http://purl.bioontology.org/ontology/MESH/C039800

Hb Lepore Washington-Boston Syndrome, Hemoglobin Lepore Boston-Washington, Hemoglobin Lepore Washington Syndrome, Hb Lepore Washington Syndrome, Hb Lepore Boston Syndrome, Hemoglobin Lepore Washington-Boston Syndrome