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EponymsTest 1

Test 1

Plummer Vinson type of iron deficiency anemia
Ankyrin, Band3, spectrin mutation seen in Heriditary Spherocytosis
Mutation in PIGA affects GPI Paroxysmal Nocturnal Hemoglobinuria
Schilling Test lab test for pernicious anemia (B12 deficiency)
Fanconis anemia congenital shortage of platelets
Glanzmann Thrombasthenia lack of GPIIb/IIIA - the fibrinogen receptors
Bernard-Soulier Syndrome absent or decreased GP1b
ATAMSTS-13 protease that cleaves HMW vWF multimers, so shortage of this means vWF is too active
Prothrombin gene mutation G20210 results in high levels of prothrombin and slight increased risk of thrombosis
Leiden Mutation prevents cleavage by Factor V
Hb Bart alpha thalassemia in Newborn: see excess γ chains --> γ4 tetramers
alpha chains: --/+- HbH. alpha thalassemia in Adults, see excess β globin chains --> β4 tetramers
Hydrops Fetalis don’t express any of the 4 alpha globin chains - lethal in utero
Mysoin heavy chain defect seen in idiopathic hypertrophic subaortic stenosis
Aschoff Body hallmark of acute rheumatic fever
Osler's Nodes seen in bacterial endocarditis
Created by: mcafej02