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Genetic and Rare Diseases Information Center (GARD)

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Pelger-Huet anomaly


Other Names for this Disease
  • Ovoid neutrophil nuclei, developmental delay, epilepsy and skeletal abnormalities
  • Pelger Huet anomaly
  • Pelger-Huet nuclear anomaly
  • PHA
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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. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is an 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.