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Thrombocytopenia & Pelger-Huet Anomaly - blood tests & bone

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My son has been diagnosed with thrombocytopenia, he has had numerous blood tests and a bone marrow biopsy which showed that he is producing platelets and producing them well. So his physician believes he is destroying them. His numbers range weekly from 49,000 to 100,000. The physician has no answers and said he might have to live with it. Unfortunately, he is a soccer player and she states the platelets have to be above 75,000 for him to play soccer so each week is a waiting game. He is an active young man, he feels great and has no symptoms. He has also been diagnosed with Pelger-Huet Anomaly (His father also has this - just discovered on blood test). Is there anything we can do for him?


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replied August 8th, 2007
Inflammatory and Abnormal Cell Disorders Answer A3119
Pelger-Huët anomaly (PHA) is a benign genetic disorder wherein mutations of the lamin B receptor (LBR) gene cause morphological changes in the nuclei (dumbbell-shaped bilobed nuclei; a reduced number of nuclear segments; and coarse clumping of the nuclear chromatin) of the neutrophils, lymphocytes, and monocytes. The platelets are not affected nor is the function of the leucocytes. A heterozygote (only one gene is mutated) containing this genetic mutation is clinically completely healthy. Homozygotes with PHA can have skeletal anomalies, developmental delay, and seizures.


If thrombocyte (platelet) production is OK then the only possibility left is that the platelets are somehow destroyed more frequently than normally. There are many conditions where platelets are destroyed (autoimmune diseases, spleen disorders, infections etc). Thrombocytopenia, or a condition of low levels of thrombocytes, manifests symptoms such as petechial bleeding if the number of thrombocytes becomes fewer than 50.000. You can request some laboratory analyses (antibodies against platelets…) to find out the reason for your son's case of thrombocytopenia. Therapy for thrombocytopenia depends upon the diagnosis. You can ask for expert help from a hematologist in this regard.



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