Pelger-Huet anomaly

How is Pelger-Huet anomaly diagnosed?

Pelger-Huet anomaly (PHA) is typically diagnosed by completing a type of blood test called a blood smear to examine the appearance of the nuclei of several types of white blood cells, including neutrophils. Normally the nuclei of these cells have a trilobed shape. In PHA, they are bilobed, peanut, or dumb-bell shaped. They might additionally appear to not have any lobes. The structure is additionally abnormal and appear to be coarse or lumpy. To view a picture of how these cells appear under microscope, click here.

When PHA is suspected, it is important to rule out other acquired causes of PHA (known as pseudo-PHA) such as medications (valproic acid, ibuprofen, docetaxel), chemical ingestion/use (benzene), hematologic disorders (leukemia, Fanconi anemia), and non-hematologic disorders (malaria, flu, lupus).

Last updated on 05-01-20

Is genetic testing available for Pelger-Huet anomaly?

Genetic testing to detect mutations in the LBR gene is available for Pelger-Huet anomaly (PHA), though genetic testing may not be necessary to confirm a diagnosis of PHA. For more on the genetic testing options for PHA, click here to view information available through Genetic Testing Registry.

Last updated on 05-01-20

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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