#ExistInterpData>Background information for Hemoglobin Lepore (HBD/HBB Fusion) 3 Mutations:
Characteristics: Hb Lepore is a hemoglobin variant resulting from a fusion between the delta globin gene (HBD) and the beta globin gene (HBB). Hb Lepore is classified as a beta-plus thalassemia mutation, as it results in reduced beta globin chain synthesis and in its heterozygous form is associated with mild anemia, hypochromic microcytosis, and moderately increased fetal hemoglobin.
Incidence: Most common in southern Europeans.
Inheritance: Autosomal recessive.
Cause: Delta/beta globin gene rearrangements.
Mutations tested: Hb Lepore-Washington-Boston (g.63632_71046del), Hb Lepore-Baltimore (g.63564_70978del), and Hb Lepore-Hollandia (g.63290_70702del).
Clinical Sensitivity: Unknown.
Methodology: Multiplex PCR and gel electrophoresis to detect the three common Hb Lepore mutations.
Analytical Sensitivity and Specificity: 99 percent.
Limitations: Only the three common Hb Lepore mutations will be detected. Rare diagnostic errors can occur due to primer site mutations.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.
See Compliance Statement C: www.aruplab.com/CS