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blood anomaly
by Taz lover, Sep 27, 2007 01:40PM
My nephew was diagnosed with pelger-huet anomaly. Could you please tell me exactly what this is and if it is life threatening. Also, is it inherited? Thanks
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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.