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