In the case of the autosomal dominant inherited anomaly, the cell nucleus of the granulocytes is hyposegmented . The nuclei have a maximum of only two core segments ("bilobular"). However, the function of the leukocytes is not or only very little affected. In the homozygous form, the nuclei are all unsegmented and round. In the heterozygous form, the nuclei mostly have two segments.
The congenital anomaly must be distinguished from the acquired pseudo-Pelger-Huët anomaly. This hyposegmentation occurs for a short time because of an underlying disease. The triggering diseases can include various forms of leukemia , especially acute myeloid leukemia , myelodysplastic syndrome , severe infections or a lack of vitamin B 12 , folic acid or copper . The pseudo-Pelger-Huët anomaly was also observed after drug therapy.
- Paul Frick : Blood and bone marrow morphology . Thieme, Cologne 2003, p. 29 .
- Mounica Vallurupalli, Sanjay Divakaran, Aric Parnes, Bruce D. Levy, Joseph Loscalzo: The Element of Surprise , New England Journal of Medicine 2019, Volume 381, Issue 14 of October 3, 2019, pages 1365-1371, DOI: 10.1056 / NEJMcps1811547