Pelger-Huet anomaly

Common Name(s)

Pelger-Huet anomaly

Pelger-Hu‘t 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-Hu‘t anomaly, which may be found in individuals with certain types of leukemia or myelodysplastic syndromes.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pelger-Huet anomaly" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Pelger-Huet anomaly" returned 21 free, full-text research articles on human participants. First 3 results:

Image analysis of neutrophil nuclear morphology: Learning about phenotypic range and its reliable analysis from patients with pelger-Huët-anomaly and treated with colchicine.
 

Author(s): Nele Schnipper, Hans H Stassen, Tilmann Kallinich, Karl Sperling, Katrin Hoffmann

Journal: Cytometry B Clin Cytom. 2017 11;92(6):541-549.

 

The nuclear morphology of neutrophils depends on different endogenous and exogenous factors, which can lead to hypo- or hypersegmentation of the normally 2-4 segmented nucleus. Hyposegmentation can be due to mutations in the LBR-gene (Pelger-Huët-Anomaly) or can be induced, for example, ...

Last Updated: 31 Dec 1969

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A case of benign Pelger-Huët anomaly.
 

Author(s): Toni Roberts, Michael Linenberger

Journal: Blood. 2015 Jul;126(5):693.

 

Last Updated: 31 Dec 1969

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Pseudo-Pelger-Huët anomaly in a patient on tacrolimus.
 

Author(s): Upasana Joneja, Guldeep Uppal

Journal: Blood. 2015 Jul;126(2):277.

 

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Pelger-Huet anomaly" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.