Sickle Cell Disease Ontology Project

Hemoglobin Genotype S/Lepore Boston

http://scdontology.h3abionet.org/ontology/SCDO_1000070

A compound heterozygous genotype, involving the mutations for Hemoglobin S (beta6Glu>Val) and Hemoglobin Lepore Boston.

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definition source

Stevens MC, Lehmann H, Mason KP, Serjeant BE, Serjeant GR. 1982. Sickle cell Hb Lepore Boston syndrome. Uncommon differential diagnosis to homozygous sickle cell disease. Am J Dis Child. 136(1):19-22., PMID: 7055103

Haemoglobin Genotype S/Lepore, S/Lepore Boston Genotype, S/Lepore Genotype, S/Lepore