Journal of Hematology & Thromboembolic Diseases
Open Access
ISSN: 2329-8790
ISSN: 2329-8790
Hendrik De Raeve
Belgium
Research Article
Autosomal Dominant Hereditary Essential Thrombocythemia due to a Gain of Function Mutation in the Thrombopoietin (TPO) and JAK2 Gene as the Cause of Congenital Aspirin-Responsive Sticky Platelet Syndrome: Personal Experiences and Review of the Litera
Author(s): Jan Jacques Michiels, Jan Stasko, Peter Kubish, Achille Pich and Hendrik De RaeveJan Jacques Michiels, Jan Stasko, Peter Kubish, Achille Pich and Hendrik De Raeve
Autosomal dominant hereditary Essential Thrombocythemia (ET) due to the gain of function mutation CG transversion in the splice donor of intron 3 in the TPO gene on chromosome 3q27 in a Dutch and Polish family is associated with marked increased TPO levels and Aspirin-responsive Sticky Platelet Syndrome (SPS). SPS is featured by typical clinical manifestations of aspirin responsive microvascular circulation disturbances including erythromelalgia and atypical transient ischemic attacks. Increase of large platelets in blood smears and large mature megakaryocytes with hyperploid nuclei in a normal cellular bone marrow were diagnostic for autosomal dominant hereditary ET (HET). The spectrum of platelet-mediated thrombophilia in HET is comparable to the aspirin responsive SPS in acquired JAK2V617F positive ET. The affected members of the Dutch and Polish HET families showed no endogenou.. View More»
DOI:
10.4172/2329-8790.1000180