Abstract: Embodiments of this invention include oligonucleotides associated with one or mutations associated with familial thrombocytopenia and methods suitable for their detection. Embodiements of this invention include isolated peptides and/or proteins comprising a serine residue at position 42 of the HCS protein. This invention also includes antibodies directed at nucleic acids, peptides or proteins comprising at least a portion of HCS having a serine reside at positon 42. Other embodiements include devices, kits and methods for detecting markers associated with familial thrombocytopenia associated with the HCS42g-s mutation, or to therapies for HCS42g-s using antisense oligonucleotides.