Living with Pelger-Huët anomaly
An inherited blood condition in which certain white blood cells have an unusually shaped nucleus, usually without health problems.
Understanding Pelger-Huët anomaly
The nuclei of white blood cells called neutrophils and eosinophils have two lobes instead of the usual three, and look lumpy. GARD says most people with it are healthy. Changes in the LBR gene can also cause related conditions with skeletal findings. Diagnosis is made with a blood smear.
Signs & symptoms
Most people have no symptoms. GARD lists these in related, more complex forms:
- Unusual neutrophil shape (blood test finding)
- Cleft palate
- Intellectual disability
- Seizures
- Wide-set eyes
- Gum overgrowth
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the LBR gene cause this condition. It is autosomal dominant, which means one changed copy of the gene is enough to cause it.
Also known as: pelger huet anomaly; pelger-huet anomaly; pha
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Pelger-Huët anomaly.
Explore research for Pelger-Huët anomaly
Explore actively recruiting Pelger-Huët anomaly studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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