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.
 

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

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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 12 free, full-text research articles on human participants. First 3 results:

An in vitro model for Pelger-Huët anomaly: stable knockdown of lamin B receptor in HL-60 cells.
 

Author(s): Ada L Olins, Aurélie Ernst, Monika Zwerger, Harald Herrmann, Donald E Olins

Journal: Nucleus. ;1(6):506-12.

 

The principal human blood granulocyte (neutrophil) possesses a lobulated and deformable nucleus, important to facilitate rapid egress from blood vessels as these cells migrate to sites of bacterial or fungal infection. This unusual nuclear shape is a product of elevated levels of ...

Last Updated: 20 Sep 2011

Go To URL
Pseudo-Pelger-Huët anomaly induced by medications: a clinicopathologic study in comparison with myelodysplastic syndrome-related pseudo-Pelger-Huët anomaly.
 

Author(s): Endi Wang, Elizabeth Boswell, Imran Siddiqi, Chuanyi Mark Lu, Siby Sebastian, Catherine Rehder, Qin Huang

Journal: Am. J. Clin. Pathol.. 2011 Feb;135(2):291-303.

 

Pseudo-Pelger-Huët anomaly (PPHA) has been documented in association with transplant medications and other drugs. This iatrogenic neutrophilic dysplasia is reversible with cessation or adjustment of medications but is frequently confused with myelodysplastic syndrome (MDS) based ...

Last Updated: 13 Jan 2011

Go To URL
Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huët anomaly.
 

Author(s): Nadezda Maksimova, Kenju Hara, Irina Nikolaeva, Tan Chun-Feng, Tomoaki Usui, Mineo Takagi, Yasushi Nishihira, Akinori Miyashita, Hiroshi Fujiwara, Tokuhide Oyama, Anna Nogovicina, Aitalina Sukhomyasova, Svetlana Potapova, Ryozo Kuwano, Hitoshi Takahashi, Masatoyo Nishizawa, Osamu Onodera

Journal: J. Med. Genet.. 2010 Aug;47(8):538-48.

 

Hereditary short stature syndromes are clinically and genetically heterogeneous disorders and the cause have not been fully identified. Yakuts are a population isolated in Asia; they live in the far east of the Russian Federation and have a high prevalence of hereditary short stature ...

Last Updated: 26 Jul 2010

Go To URL

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 1 free, full-text review articles on human participants. First 3 results:

Understanding and recognizing the Pelger-Huët anomaly.
 

Author(s): Rita Colella, Sandra C Hollensead

Journal: Am. J. Clin. Pathol.. 2012 Mar;137(3):358-66.

 

The Pelger-Huët anomaly (PHA) is a recognized morphologic variant affecting all granulocytes but is most evident in polymorphonuclear neutrophils (PMNs). PHA is caused by a decreased amount of the lamin B receptor (LBR). Recognition of PHA morphologic features serves as a marker ...

Last Updated: 16 Feb 2012

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.