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Forum Name: Hematology Topics

Question: Pelger Huet Anomaly plus Benzene exposure


 slate - Thu Sep 08, 2005 6:45 pm

I have been diagnosed with macrocytosis and have seen a hematologist who talked to me about myelodysplasia. I told her that 25 years ago I was told my bloodwork showed Pelger Huet Anomaly (PHA). My sister was tested and she had it too. She and I grew up "over the store", my father had a Texaco station. The underground gas tanks had vent pipes which were a few yards from our bedroom window. My question is, could benzene exposure have made my blood work look like I had PHA? My hematologist seemed relieved when I told her about the PHA, she explained the myelodysplasia was congenital (I was born with it) so benign. Because of my memory impairment, I forgot to tell her about the Texaco station. She didn't want to do any bone marrow testing and said she wouldn't until my hemaglobin is below 115. She told me to come back in 6 months. When I got home I remembered all the stuff I should have told her, like how I'm always exhausted, my sister went to bed at 8:00 p.m. for most of her adult life, she was always so tired. She died of breast cancer 2 years ago. Can you have PHA and it's not benign? I'm 55 but have felt like I'm 85 for a very long time. I am the sickest person I have ever known who's still alive.
Paula
 Dr. Safaa Mahmoud - Sat Jul 29, 2006 5:34 pm

User avatar Dear slate,

Pelger-Huet anomaly (PHA) is a dominantly inherited benign defect of neutophil terminal differentiation.
Characteristic blood findings include:
Bilobed shaped neutophil nuclei
A reduced number of nuclear segments
Coarse chromatin of the nuclei of neutrophils, lymphocytes, and monocytes.

Distinguishing this autosomal dominant disorder from acquired or pseudo-PHA is very important and affects the prognosis of the disease.

In the hereditary form of PHA, positive family history is helpful in making the diagnosis more likely. In addition, no other cell line involvement should be found in this form of PHA.

Exposure to Benzene for a duration ranged from 3 months to 17 years has been found to result in the development of the acquired pseudo-Pelger Huet anomaly in 0.5%.

In contrast, if anemia or thrombocytopenia is detected the diagnosis of Pseudo-PHA is to be considered which may preced the clinical onset of myelodysplastic disorders and other malignant hematological conditions.In such cases, a bone marrow aspiration and biopsy would be necessary.

I advise you to follow up with your doctor and to discuss with her this information and further approaches to each the correct diagnosis.

Best regards,

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