Thrombocytopenia & Pelger-Huet Anomaly - blood tests & bone

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.