Heme/Onc Flashcards
mutation of protein S19 that is required for maturation of the 40s ribosomal subunit
Diamond Blackfan Anemia
rapid onset anemia w/in 1st year of life d/t intrinsic defect on erythroid progenitor cells
Diamond Blackfan anemia
short stature, craniofacial abnormalities and UE malformations, increased HbF, decreased total Hb
Diamond Blackfan anemia
megaloblastic anemia d/t inability to convert orotic acid into UMP
orotic aciduria
defect in UMP synthase
orotic aciduria
AR; FTT, developmental delay, megaloblastic anemia refractory to B12 and folate supplement, no hyperammonemia
orotic aciduria
tx of orotic aciduria
uridine monophosphate or uridine triacetate to bypass enzyme
inherited or acquired deficiency of antithrombin
antithrombin deficiency
acquired via renal failure/nephrotic syndrome by losing antithrombin in the urine
production of mutant factor V
Factor V Leiden
G to A point mutation leading to an Arginine to Glutamate mutation at position 506 rendering factor V that is resistant to degradation by protein C
Factor V Leiden
factor V stays active longer leading to more clotting
Factor V Leiden
MC inherited hypercoaguable stage
Factor V Leiden
decreased ability to inactivate factors Va and VIIIa
Protein C or S deficiency
increased risk of thrombotic skin necrosis with hemorrhage after warfarin admin
Protein C deficiency
mut in the 3’ UTR leading to increased production on prothrombin leading to incread plasma thrombin levels and venous clots
prothrombin gene mutation
