Pelger Huet anomaly (PHA)involves a structural defect in white blood cells. The white blood cells appear abnormal but generally remain functionality, and hence is not life threatening. There is however, a pseudo Pelger Huet anomaly which occurs in some forms of leukemia which must be distinguished, as this would have a different outcome.
Pelger Huet anomaly is inheritable. Those with a single copy (meaning either maternal or paternal gene is a defective PHA trait) generally have no symptoms but will have abnormal looking cells when examined. Those having 2 defective copies may have skeletal abnormalities, developmental delay, and risk for seizures.
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