Hereditary Persistence of Fetal Hemoglobin (HPFH) 8 Mutations (INACTIVE as of 05/15/17: Refer to 2010113)
Ordering Recommendation

Aid in determining the cause of elevated hemoglobin F. Confirm suspected deletional HPFH. Carrier testing for individuals with a family history consistent with HPFH.

Polymerase Chain Reaction/Electrophoresis
Tue, Fri
7-10 days
New York DOH Approval Status
This test is New York DOH approved.
ARUP Consult®
Disease Topics
Specimen Required
Patient Preparation
Lavender (EDTA) or pink (K2EDTA). Also acceptable: Yellow (ACD Solution A or B), lt. blue (sodium citrate), or 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 
Reference Interval
By report
Interpretive Data
Background information for Hereditary Persistence of Fetal Hemoglobin (HPFH) 8 Mutations:
HPFH is a clinically benign condition resulting from mutations within the beta globin gene cluster that alter normal hemoglobin switching and result in persistent production of hemoglobin F (Hb F). Individuals heterozygous for an HPFH deletion typically have elevated levels of Hb F with normal red blood cell indices, while homozygotes typically have Hb F levels approaching 100 percent and mild erythrocytosis. When an HPFH deletion is paired with another beta globin gene mutation, variable phenotypes can result.
Incidence: Varies depending on the population.
Cause: Beta globin gene cluster deletions and point mutations within the promoter of the gamma globin genes.
Mutations Tested: HPFH-1 (g.5174452_5259368del84917), HPFH-2 (g.5180404_5263982del83579), HPFH-3 (g.5215683_5265453del49771), HPFH-4 (g.5217940_5260078del42139), HPFH-5 (g.5246023_5258951del12929), HPFH-6 (g.5193975_5273259del79278), HPFH-7 (g.5247860_5270651del22792), and SEA-HPFH (g.5222878_5250288del27411).
Clinical Sensitivity:
Multiplex PCR and gel electrophoresis.
Analytic Sensitivity: Greater than 95 percent for the 8 targeted HPFH deletions.
Only the 8 targeted deletions associated with HPFH will be interrogated. Point mutations or rare deletions that cause HPFH or delta/beta thalassemia will not be identified. Other genetic modifiers of Hb F levels will not be assessed. This test will not differentiate homozygosity for an HPFH deletion from an HPFH deletion paired with a rare globin gene cluster deletion. Diagnostic errors can occur due to rare sequence variations.

Compliance Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test. However, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing. Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Component Test Code*Component Chart NameLOINC
2005409Hereditary Persistent Fetal Hb Specimen
2005412Hereditary Persistant Fetal Hb Interp
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
  • Carrier testing for HPFH
  • HPFH molecular assay
  • HPFH mutation assay