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42 Cards in this Set
- Front
- Back
What is the rate limiting step in heme synthesis?
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ALA synthase
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Where in heme synthesis does lead block?
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ALA dehydrase and ferrochelatase
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What is the mcc of siderblastic anemia?
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decreased B6
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What are the symptoms of lead poisoning?
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lead lines on gums, encephapathy, abdominal pain, wrist and foot drop, basophilic stippling
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How do you treat lead poisoning?
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succimer, EDTA
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What inheritance is acute intermittent porphyria?
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AD- variable expression
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What is the enzyme deficiency in acute intermittent porphyria?
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uroprophyrinogen-1 synthase
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What increased levels do you see with AIP?
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increased ALA and prophobilinogen
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What chains are increased in alpha thalassemia?
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alpha decreased, there are 4 beta globin genes
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In what population is alpha thalassemia the most common?
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asian population
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In beta thalassemia minor, which chain is underproduced?
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beta
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In beta thalassemia major, what chain is not produced at all?
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beta
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What increased levels do you see in beta thalassemia?
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fetal hemoglobin
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In what population is beta thalassemia prominent?
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mediterranean
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HbH falls under what thalassemia?
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alpha
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What chains are decreased in HbH?
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there is only 1 alpha chain
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What thalassemia does Hb Bart's fall under?
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alpha
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What chains are missing in Hb Bart's?
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all alpha
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What disease does Hb Bart's result in?
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hydrops fetalis- fetal death
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What determines if an anemia is microcytic?
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the MCV is below 80
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What are the common causes of microcytic anemia?
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fe def, thalssemias, lead poisoning, siderblastic anemia,
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What determines if something in a macrocytic anemia?
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the MCV is > 100
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What problems are associated with macrocytic anemia?
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megaloblastic anemia and drugs that block DNA synthesis (eg. sulfa drugs, AZT)
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What inheritance is hereditary spcherocytosis?
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AD
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What is the defect in hereditary spherocytosis?
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defect in spectrin in RBC membrane
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What are the clinical features of hereditary spherocytosis?
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splenomegaly, parvo B19 infection can cause an acute aplastic crisis
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What a.a. substitution causes sickle cell anemia?
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valine to replace glutamic acid at position 6 of the beta-globin gene
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Heterozygote sickle cell patients are resistant to what?
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malaria
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How is sickle cell described?
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cresent-shaped RBCs
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How are sickle patients described from an x-ray?
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crew-cut on skull xray due to marrow expansion from increased erythropoiesis
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What is the treatment for sickle cell disease?
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hydroxyurea- increased HbF or transfusions
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What a.a. substitution causes hemoglobin C disease?
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lysine is replaced with glutamic at position 6
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How is hemoglobin C described?
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rod-shaped crystals in the RBCs
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What inheritance is G6PDH deficiency?
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x-linked recessive
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What does G6PDH cause a decrease in the production of?
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glutathione peroxidase (antioxidant)
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Anisocytosis is a clue to what?
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iron deficiency anemia
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Poikilocytosis is a clue to what?
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iron deficiency anemia
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Target cells are a clue to what?
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thalassemia, hemoglobin C, and liver disease
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Bite cells are a clue to what?
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G6PDH deficiency
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Teardrop cells are a clue to what?
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myelofibrosis
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Heinz-bodies are a clue to what disease?
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G6PDH
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Howell-Jolly bodies are a clue to what?
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iron deficiency anemia
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