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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-Huët 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 caused by a mutation or alteration in a gene called the lamin B receptor (LBR) gene located on the long arm of chromosome 1 (1q42.1). It is important to distinguish this autosomal dominant disorder from acquired or pseudo-Pelger-Huët anomaly, which may be found in individuals with certain types of leukemia or myelodysplastic syndromes.[1]
Last updated: 11/1/2011

References

  1. Kanwar VS. Pelger-Huet Anomaly . eMedicine. May 26, 2010; http://emedicine.medscape.com/article/957277-overview. Accessed 11/1/2011.
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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.
  • 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.