Pelger-Huët Anomaly
Pelger-Huët anomaly is an autosomal dominant benign condition found in 1 in 6000 individuals.
The characteristic leukocyte appearance was first reported in 1928 by Pelger, a Dutch hematologist, who described leukocytes with dumbbell-shaped bilobed nuclei, a reduced number of nuclear segments, and coarse clumping of the nuclear chromatin.
In 1931 Huet, a Dutch pediatrician, identified it as an inherited disorder.
Neutrophils contain not more than two lobes to the nuclei (spectacle-shaped nuclei) and “band forms” are frequent. In the inherited anomaly, affected neutrophils with bilobed nuclei make up 60-90% of the neutrophils seen.
Anomalies resembling Pelger-Huët anomaly that are acquired rather than familial have been described as pseudo Pelger-Huët anomaly. The morphologic characteristic seen in pseudo Pelger-Huët anomaly is similar to Pelger-Huët anomaly. The acquired pseudo Pelger-Huët anomaly has been associated with pathologic conditions including acute and chronic myeloid leukemias, myelodysplastic syndrome (MDS), severe infections and some other toxic conditions.
Pseudo Pelger-Huët anomaly and micromegakaryocytes are considered to be highly characteristic and highly pathognomonic of MDS.
Usually, the congenital form is not associated with thrombocytopenia and leukopenia, so if these features are present more detailed search for myelodysplasia is warranted, as pseudo-Pelger–Huët anomaly can be an early feature of myelodysplasia.
When Pelger-Huët cells are identified, initially attempt to determine if the patient has a benign inherited anomaly or an acquired morphologic feature (ie, pseudo–Pelger-Huët anomaly). In pseudo-Pelger-Huët anomaly, cells may appear morphologically similar to inherited Pelger-Huët anomaly, but absence of these findings in other family members, a low percentage of affected cells (usually 5-20%), and involvement of other cell lines (eg, anemia or thrombocytopenia) suggest an acquired anomaly.
Mutation here involve which Gene?
Hello,
Thank you for your message.
Pelger-Huët anomaly is a benign, dominantly inherited defect of terminal neutrophil differentiation secondary to mutations in the lamin B receptor (LBR) gene.
Regards,
My brother and my oldest son both have been verified as having PHA. Other things they have in common are Dyslexia and a few other learning issues. Could these possibly be connected somehow? I think I read somewhere that certain mutations in the LBR gene can cause learning issues.
Hi Suzanne,
Thank you for your comment.
I really don’t know if there is a link between PHA and Dyslexia but I think this article may answer some of your queries with this matter:
https://rarediseases.info.nih.gov/diseases/9148/pelger-huet-anomaly
BW,
I went to the hospital recently for heart issue due to over stress. This test came back in my patient portal.
Smear Exam by Pathologist
Note:
Mar 02, 2022 11:18 a.m. EST
Comment:
Red blood cells show minimal variation in shape and size with no inclusions and less than one schistocyte per 100 red blood cells seen. No nucleated red blood cells are seen. The white blood cell differential count is confirmed. Normal morphological features are seen; rare Pelger Huet cells seen. The platelet count shows decreased numbers. No platelet clumping is seen. Peripheral Smear Review: Mild macrocytic anemia NOTE: Vit B12/Folate levels and if normal, considerations for a marrow study is recommended.
Hi Pamela,
Thank you for your comment.
From your blood film comment they are querying ?possible myelodysplasia in view of the macrocytic anaemia and the Pelger-Huët anomaly. I would suggest initially to check your serum B12, Folate, GGT, and LDH.
BW,
Hello, I was wondering if the following results of “rare hypograndular neutrophil” is the same as PHA or APHA.
Normochromic, normocytic RBCs. Platelets adequately granulated. Rare hypogranular neutrophil of uncertain significance in this setting. No other features of dysplasia. No blasts.
Hi Christine,
Thank you for your comment.
As long as the hypogranular neutrophils are not seen frequently on the blood film and your CBC is normal you can safely ignore it.
BW,