Pelger-Huet anomaly

Title

Other Names:

PHA; Pelger Huet anomaly; Pelger-Huet nuclear anomaly; PHA; Pelger Huet anomaly; Pelger-Huet nuclear anomaly; Ovoid neutrophil nuclei, developmental delay, epilepsy and skeletal abnormalities See More

Categories:

Congenital and Genetic Diseases

Summary Summary

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.^[1] 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.^[2] 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.^[1]

Last updated: 4/25/2016

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Abnormality of chromosome segregation		0002916
1%-4% of people have these symptoms
Abnormality of the dentition	Abnormal dentition Abnormal teeth Dental abnormality [ more ]	0000164
Bilateral tonic-clonic seizure	Grand mal seizures	0002069
Depressed nasal bridge	Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ]	0005280
Eczema		0000964
Failure to thrive	Faltering weight Weight faltering [ more ]	0001508
Foot dorsiflexor weakness	Foot drop	0009027
Frontal bossing		0002007
Giant platelets		0001902
Gingival overgrowth	Gum enlargement	0000212
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Kyphosis	Hunched back Round back [ more ]	0002808
Lower limb hyperreflexia	Overactive lower leg reflex	0002395
Lower limb hypertonia		0006895
Macrocephaly	Increased size of skull Large head Large head circumference [ more ]	0000256
Median cleft palate	Central cleft palate Midline cleft palate [ more ]	0009099
Mild short stature		0003502
Neutropenia	Low blood neutrophil count Low neutrophil count [ more ]	0001875
Pes cavus	High-arched foot	0001761
Recurrent otitis media	Recurrent middle ear infection	0000403
Short 3rd metacarpal	Shortened 3rd long bone of hand	0010041
Short 4th metacarpal	Shortened 4th long bone of hand	0010044
Short 5th metacarpal	Shortened 5th long bone of hand	0010047
Strabismus	Cross-eyed Squint Squint eyes [ more ]	0000486
Thrombocytopenia	Low platelet count	0001873
Umbilical hernia		0001537
Upper limb undergrowth	Short arms Shortening of the arms [ more ]	0009824
Ventricular septal defect	Hole in heart wall separating two lower heart chambers	0001629
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance		0000006
Global developmental delay		0001263
Hyposegmentation of neutrophil nuclei		0011447
Polydactyly	More than five fingers or toes on hands or feet	0010442
Prominent forehead	Pronounced forehead Protruding forehead [ more ]	0011220

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 2/1/2021

Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis

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).^[1]^[2]

Last updated: 4/25/2016

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.^[3]^[4]

Last updated: 4/25/2016

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from MedlinePlus Genetics.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a 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.

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

References References

Vikramjit S Kanwar. Pelger-Huet Anomaly. Medscape. February 13, 2014; http://emedicine.medscape.com/article/957277-overview.
Lior Borovik, Peggy Modaff,Hans R. Waterham, Anthony D. Krentz,Richard M. Pauli. Pelger-Huet Anomaly and a Mild Skeletal Phenotype Secondary to Mutations in LBR. American Journal of Medical Genetics. August 2013; 161A(8):2066-2073. http://www.ncbi.nlm.nih.gov/pubmed/23824842.
Victor A. McKusick. PELGER-HUET ANOMALY; PHA. In: George E. Tiller. OMIM. 3/5/2014; http://www.omim.org/entry/169400.
Pelger-Huët anomaly. Genetic Testing Registry; http://www.ncbi.nlm.nih.gov/gtr/conditions/C0030779/. Accessed 4/25/2016.