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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DoctorAnswer
Doctor Answer
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Inflammatory and Abnormal Cell Disorders Answer A3119 Posted: 08-08-07 07:50am
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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