Use for molecular confirmation of a suspected Hemoglobin (Hb) Lepore variant identified by Hb evaluation. Carrier screening for individuals with a family history of Hb Lepore.
Qualitative Polymerase Chain Reaction/Qualitative Electrophoresis
Lavender (EDTA) or pink (K2EDTA). Also acceptable: Yellow (ACD Solution A or B), lt. blue (sodium citrate), green (sodium or lithium heparin).
Transport 3 mL whole blood. (Min: 1 mL)
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
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.
Laboratory Developed Test (LDT)
|Component Test Code*||Component Chart Name||LOINC|
|2004687||Hemoglobin Lepore 3 Mutations Specimen||31208-2|
|2004688||Hemoglobin Lepore 3 Mutations||35474-6|
- HBB HBD fusion testing
- Hg Lepore mutation assay