Sickle Cell Disease Ontology Project

Hemoglobin Lepore Syndrome

http://scdontology.h3abionet.org/ontology/SCDO_0000538

A rare autosomal recessive hemoglobinopathy, caused by the presence of two deltabeta globin fusion chains, which occurs due to a crossover between the delta (HBD) and beta globin (HBB) gene loci during meiosis.

Term info

definition source

http://en.wikipedia.org/wiki/Hemoglobin_Lepore_syndrome

Homozygous Hemoglobin Lepore, Hb Lepore Syndrome, Homozygous Hb Lepore, Hb Lepore