Molecular confirmation of a suspected Hemoglobin (Hb) Lepore variant identified by Hb evaluation. Carrier screening for individuals with a family history of Hb Lepore.
- Patient Preparation
- Lavender (EDTA) or pink (K2EDTA). Also acceptable: Yellow (ACD Solution A or B), lt. blue (sodium citrate), green (sodium or lithium heparin).
- Specimen Preparation
- Transport 3 mL whole blood. (Min: 1 mL)
- Storage/Transport Temperature
- Unacceptable Conditions
- Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
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 abeta-plusthalassemia 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.
|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