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.
Compliance Statement C: For human genetic inheritable conditions and mutations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
|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