[Hereditary thrombocytopenia-thrombocytopathy with myelofibrosis (author's transl)].
A case of hereditary autosomal recessive thrombocytopenia is reported. Thrombocytopathy is associated with the thrombocytopenia. There is a contrast between the cytologic aspect of poor bone-marrow without any megakaryocyte and the histologic aspect of dense bone-marrow with a normal number of megakaryocytes. Myelofibrosis can explain this discrepancy. The life time of platelets being just a little shortened, the disease is probably due to a lack of bone-marrow production.
D000293:Adolescent; D005260:Female; D006801:Humans; D055728:Primary Myelofibrosis / Q000150:complications*; D013921:Thrombocytopenia / Q000150:complications* / Q000235:genetics
Thrombopénie-Thrombopathie héréditaire avec myélofibrose.