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Diseases

Genetic and Rare Diseases Information Center (GARD)

Pelger-Huet anomaly


Other Names for this Disease
  • PHA
  • Pelger Huet anomaly
  • Pelger-Huet nuclear anomaly
  • Ovoid neutrophil nuclei, developmental delay, epilepsy and skeletal abnormalities
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Overview

Pelger-Huet anomaly (PHA) is an inherited blood condition in which the nuclei of several types of white blood cells (neutrophils and eosinophils) have unusual shape (bilobed, peanut or dumbbell-shaped instead of the normal trilobed shape) and unusual structure (coarse and lumpy).  Click here to view a picture of these cells seen under the microscope. PHA is considered to be a benign disorder in most instances, as individuals with PHA are typically healthy.[1] PHA is caused by mutations in the LBR gene. It is suspected that mutations within the LBR gene are responsible for a spectrum of disorders including isolated PHA; PHA with mild skeletal symptoms; and Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia (HEM). PHA was previously thought to be inherited in an autosomal dominant manner; however, co-dominant inheritance has been suggested as well.[2] It is important to distinguish PHA from acquired or pseudo-Pelger-Huet anomaly, which may be found in individuals with certain types of leukemia or myelodysplastic syndromes. Diagnosis is made based on characteristic appearance of white blood cell nuclei identified by a blood smear. Most individuals with PHA do not require treatment as they do not have symptoms.[1]
Last updated: 4/25/2016

References

  1. Vikramjit S Kanwar. Pelger-Huet Anomaly. Medscape. February 13, 2014; http://emedicine.medscape.com/article/957277-overview.
  2. Lior Borovik, Peggy Modaff,Hans R. Waterham, Anthony D. Krentz,Richard M. Pauli. Pelger-Huet Anomaly and a Mild Skeletal Phenotype Secondary to Mutations in LBR. American Journal of Medical Genetics. August 2013; 161A(8):2066-2073. http://www.ncbi.nlm.nih.gov/pubmed/23824842.
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In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Pelger-Huet anomaly. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • PHA
  • Pelger Huet anomaly
  • Pelger-Huet nuclear anomaly
  • Ovoid neutrophil nuclei, developmental delay, epilepsy and skeletal abnormalities
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.