Pelger–Huët anomaly
| Pelger–Huët anomaly | |
|---|---|
| Other names | PHA[1] |
| blood smear of a patient with myelodysplastic syndrome: red blood cells showing marked poikilocytosis, in part related to post-splenectomy status, a central and hypogranular neutrophil with a pseudo-Pelger-Huet nucleus. | |
| Pronunciation |
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| Specialty | Medical genetics |
Pelger–Huët anomaly is a blood laminopathy associated with the lamin B receptor,[2] wherein several types of white blood cells (neutrophils and eosinophils) have nuclei with unusual shape (being bilobed, peanut or dumbbell-shaped instead of the normal trilobed shape) and unusual structure (coarse and lumpy).[3]
It is a genetic disorder with an autosomal dominant inheritance pattern. Heterozygotes are clinically normal, although their neutrophils may be mistaken for immature cells which may cause mistreatment in a clinical setting. Homozygotes tend to have neutrophils with rounded nuclei that do have some functional problems.
- ^ "OMIM Entry - # 169400 - PELGER-HUET ANOMALY; PHA". omim.org. Retrieved 31 October 2019.
- ^ Hoffmann, Katrin; Dreger, Christine K.; Olins, Ada L.; Olins, Donald E.; Shultz, Leonard D.; Lucke, Barbara; Karl, Hartmut; Kaps, Reinhard; Müller, Dietmar; Vayá, Amparo; Aznar, Justo; Ware, Russell E.; Cruz, Norberto Sotelo; Lindner, Tom H.; Herrmann, Harald; Reis, André; Sperling, Karl (2002). "Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger–Huët anomaly)". Nature Genetics. 31 (4): 410–4. doi:10.1038/ng925. PMID 12118250. S2CID 6020153.
- ^ "Pelger-Huet anomaly". Disease Infosearch. Retrieved 2020-04-27. Creative Commons Attribution 3.0 License