Coagulation

autosomal dominant, triad of giant plts, thrombocytopenia, and large Dohle body inclusions (aggregates of myosin heavy chain in dohle body) . Nl dohle bodies composed of RER.

AR, dense large azurophilic granules in cytoplasm, associated with mucopolysaccharidoses

AR, mutation in lysosomal transport protein, results in partial albinism, dysfunctional phagocytic function, and large cytoplasmic granules

Lack of glyocprotein Ib/V/IX complex, cannot bind to VWF. Platelet aggy shows diminshed aggregation with ristocetin, nl with ADP, epi, tx2, col. Large platelets. vWD types will also show this same aggy profile.

AR, def in GPIIb/IIIa complex, cannot bind fibrinogen. Abnormal plt aggy with ADP, epi, tx2, col and normal with ristocetin.

triad of thrombocytopenia, exczema and immunodeficiency

quantitative defect, most common, mild bleeding disorder. Normal multimer pattern, but just diminshed amount. Nl ristocetin aggregometry

10-15% of cases, absence of high molec weight multimers. Decreased agg with ristocetin.

Increased affinity for plt receptors, thus enhanced ristocetin plt aggregation. also assoc with profound thrombocytopenia. Do not us DDAVP with these patients - spontaneous bleed. Gain of function mutation.

AR, most severe, virtually no VWD produced.

Used to treat type I VWD, not others.Also in addition to cryo if needed. Contraindicated in type IIb.

Used in type II and III VWD

II, VII, IX, X, Protein S and Protein C. Inhibits Vit K carboxylation of factors. Warfarin skin necrosis due to deficiency in protien C leading to hypercoagulable state.

Factor V Leiden mutation. AD, most common inhereted thrombophilia. Point mutation leads to proteolytic resistance of protein C.

AD, second most common thrombophilia. point mutation wtihin 3' untranslated region, leads to enhanced prothrombin gene trsc and trsl. Increazed levels of prothrombin!