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Pelger-Huet Anomaly Workup

  • Author: Vikramjit S Kanwar, MBBS, MBA, MRCP(UK), FAAP; Chief Editor: Hassan M Yaish, MD  more...
 
Updated: May 03, 2016
 

Laboratory Studies

The diagnosis of Pelger-Huët anomaly (PHA) is based on the morphologic characteristics of the neutrophils observed on peripheral blood film examination. When a complete blood count (CBC) is requested, digital analyzers will report a shift to the left without identifying the specific anomaly of the neutrophils.

Neonatologists frequently utilize the ratio of mature to immature neutrophils reported by autoanalyzers for evaluating the risk of sepsis in the neonate. In the rare newborn with PHA, this can lead to a report of large numbers of immature neutrophils and an incorrect diagnosis of sepsis. Unless a peripheral blood smear is examined, the anomaly will not be identified and the report will be deceiving to the neonatologist.[14]

Examination of a peripheral blood smear in an individual heterozygous for PHA is remarkable for neutrophils with a predominance of bilobed, spectacle-shaped nuclei. an appearance often described as pince-nez. Neutrophils with bilobed nuclei make up 60-90% of the neutrophils seen; those with a single nonlobulated nucleus account for 10-40%, with normal appearing neutrophils with three-lobed nuclei sometimes accounting for as little as 10%. Most neutrophils have excessively coarse clumping of the nuclear chromatin. 

Although extremely rare, the homozygous state results in neutrophils that contain a single, round, eccentric nucleus with clumped chromatin and little or no nuclear segmentation, and basophils, eosinophils, and megakaryocytes also show dense nuclear chromatin and rounded nuclear lobes. The bone marrow of homozygous patients reveals normal morphologic features in the myeloid precursors to the myelocyte stage.

When Pelger-Huët cells are identified, initially attempt to determine if the patient has a benign inherited anomaly or an acquired morphologic feature (ie, pseudo–Pelger-Huët anomaly). In pseudo-Pelger-Huët anomaly, cells may appear morphologically similar to PHA, but absence of these findings in other family members, a low percentage of affected cells (usually 5-20%), and involvement of other cell lines (eg, anemia or thrombocytopenia) suggest an acquired anomaly. Pseudo-PHA may be predictive of the clinical onset of myelodysplastic disorders, myeloid leukemias, or myelofibrosis, and bone-marrow aspiration and biopsy may be warranted. A molecular technique that extracts and analyzes the nuclear skeleton can also be used to differentiate PHA from pseudo-PHA with a sensitivity and specificity of over 80% but is not in routine use.[15]

 
 
Contributor Information and Disclosures
Author

Vikramjit S Kanwar, MBBS, MBA, MRCP(UK), FAAP Professor of Pediatrics, Albany Medical College; Chief, Division of Pediatric Hematology-Oncology, John and Anna Landis Endowed Chair for Pediatric Hematology-Oncology, Medical Director, Melodies Center for Childhood Cancer and Blood Disorders, Albany Medical Center

Vikramjit S Kanwar, MBBS, MBA, MRCP(UK), FAAP is a member of the following medical societies: American Academy of Pediatrics, American Society of Hematology, American Society of Pediatric Hematology/Oncology, Children's Oncology Group, International Society of Pediatric Oncology

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

James L Harper, MD Associate Professor, Department of Pediatrics, Division of Hematology/Oncology and Bone Marrow Transplantation, Associate Chairman for Education, Department of Pediatrics, University of Nebraska Medical Center; Associate Clinical Professor, Department of Pediatrics, Creighton University School of Medicine; Director, Continuing Medical Education, Children's Memorial Hospital; Pediatric Director, Nebraska Regional Hemophilia Treatment Center

James L Harper, MD is a member of the following medical societies: American Society of Pediatric Hematology/Oncology, American Federation for Clinical Research, Council on Medical Student Education in Pediatrics, Hemophilia and Thrombosis Research Society, American Academy of Pediatrics, American Association for Cancer Research, American Society of Hematology

Disclosure: Nothing to disclose.

Chief Editor

Hassan M Yaish, MD Medical Director, Intermountain Hemophilia and Thrombophilia Treatment Center; Professor of Pediatrics, University of Utah School of Medicine; Director of Hematology, Pediatric Hematologist/Oncologist, Department of Pediatrics, Primary Children's Medical Center

Hassan M Yaish, MD is a member of the following medical societies: American Academy of Pediatrics, New York Academy of Sciences, American Medical Association, American Society of Hematology, American Society of Pediatric Hematology/Oncology, Michigan State Medical Society

Disclosure: Nothing to disclose.

Additional Contributors

Sharada A Sarnaik, MBBS Professor of Pediatrics, Wayne State University School of Medicine; Director, Sickle Cell Center, Associate Hematologist/Oncologist, Children's Hospital of Michigan

Sharada A Sarnaik, MBBS is a member of the following medical societies: American Society of Hematology, American Society of Pediatric Hematology/Oncology, New York Academy of Sciences, Society for Pediatric Research, Children's Oncology Group, American Academy of Pediatrics, Midwest Society for Pediatric Research

Disclosure: Nothing to disclose.

Acknowledgements

The authors and editors of Medscape Reference gratefully acknowledge the contributions of previous author Frank E Shafer, MD, to the original writing and development of this topic.

References
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  12. Borovik L, Modaff P, Waterham HR, Krentz AD, Pauli RM. Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR. Am J Med Genet A. 2013 Aug. 161A(8):2066-73. [Medline].

  13. Kalfa TA, Zimmerman SA, Goodman BK, et al. Pelger-Huët anomaly in a child with 1q42.3-44 deletion. Pediatr Blood Cancer. 2006 May 1. 46(5):645-8. [Medline].

  14. Christensen RD, Yaish HM. A neonate with the Pelger-Huët anomaly, cleft lip and palate, and agenesis of the corpus callosum, with a chromosomal microdeletion involving 1q41 to 1q42.12. J Perinatol. 2012 Mar. 32 (3):238-40. [Medline].

  15. Sun M, Yang S, Jiang J, Wang Q. Detection of Pelger-Huet anomaly based on augmented fast marching method and speeded up robust features. Biomed Mater Eng. 2015. 26 Suppl 1:S1241-8. [Medline].

 
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Neutrophils in this blood smear (original magnification X1500) have the 2 characteristics of the Pelger-Huët anomaly: the pince nezappearance of the bilobate nuclei and excessively coarse clumping of chromatin. Used with permission from Little, Brown.
 
 
 
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