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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. 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. 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.
Source: GARD Last updated on 05-01-20
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
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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