Hemoglobin Lepore Syndrome

Hemoglobin Lepore syndrome is typically an asymptomatic hemoglobinopathy caused by an autosomal recessive genetic mutation. The Hb Lepore variant consists of two normal alpha globin chains and two delta-beta fusion globin chains produced by a crossover between the delta and beta globin gene loci during meiosis, and was first identified in 1958 in an Italian-American family named Lepore. There are three known varieties, Washington, Baltimore, and Hollandia, all with similar electrophoretic and chromatographic properties, and its hematological findings closely resemble those of beta-thalassemia trait, a blood disorder that reduces production of the oxygen-carrying protein hemoglobin.