Hemoglobin Lepore (HBD/HBB Fusion) 3 Mutations
2004686
Ordering Recommendation
Order to confirm the diagnosis of Hb Lepore following suggestive hemoglobin evaluation.
Mnemonic
LEPORE
Methodology
Qualitative Polymerase Chain Reaction/Qualitative Electrophoresis
Performed
Tue, Fri
Reported
7-10 days  
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
Specimen Required
Patient Preparation
  
Collect
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
Refrigerated.  
Unacceptable Conditions
  
Remarks
  
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable  
Reference Interval
By report  
Interpretive Data
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 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 at www.aruplab.com.

See Compliance Statement C: www.aruplab.com/CS  
Note
 
CPT Code(s)
81479
Components
Component Test Code*Component Chart Name
2004687Hemoglobin Lepore 3 Mutations Specimen
2004688Hemoglobin Lepore 3 Mutations
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Aliases
  • HBB HBD fusion testing
  • Hg Lepore mutation assay