Anemias Flashcards
Iron deficiency affects which stage of heme synthesis
final step in heme syntheis
ferrocheletase protoporphyrin to heme
What are the labs that would be seenin iron deficiency anemia Iron: TIBC: Ferritin: Erythrocyte protoporhyrin: RDW:
Iron: DEC TIBC: INC Ferritin: DEC Erythrocyte protoporhyrin: INC RDW: INC
In which populations are the cis and trans alpha thalessemia traits more prevalent
Cis: asian populations
trans: african populations
What is seen with 3 deletions of the alpha thal gene
Hemoglobin H disease
excess B globin forms B4
Moderate to severe microcytic hypochromic anemia
What is seen with 4 deletions of the alpha thal gene
Hemoglobin Barts
Excess y globin forms y4
Hydrops fetalis; incompatible with life
In which population is B thalaseemia mor prevalent and what causes it
Point mutations in splice sites and promoter sequences
Prevalent in mediterranean populations
What is the presentation of B thal minor
Usually asymptomatic
Inc HbA2 on electrophoresis (>3.5%)
What can be seen with B thal major
anisopoikilocytosis requiring blood transfuioions
marrow expansion leading to crew cut xray and chipmunckf faceis
hempatosplenomegaly
inc reisk of parvo aplastic crisis
What occurs with HbS/Bthal hetero
mild to moderate sickle cell disease
What effect does lead have on read blood cells (enzymes, byproducts, etc)
inhhibits ferrocheletase and ALA dehydratase (DEC heme synth, INC RBC protoporphyrin)
ALso inhibits rRNA degradation (RBC retain aggregates and see basophilic stipling)
What is the first line treatment of lead poisoning in adults and in kids
Adults: dimercaprol and EDTA
Kids: Succimer
List 6 symptoms of lead poisoning
Lead lines on gingivae/metaphyses of long bones Encephalopathy Erythrocyte basophilic stippling Abdominal colic Anemia Drops- wrist and foot drops
What causes sydneroblastic anemia (genetic)
x linked defect in ALA synthase gene
What causes syderoblastic anemia (acquired/reversible)
acquiered: myelodysplastic syndrome Reversible: Alcohol Lead B6 deficiency Copper deficiency Isoniazid Chloramphenicol
What are the lab findings of sideroblastic anemia
Iron:
TIBC:
Ferritin:
Iron: INC
TIBC: normal/DEC
Ferritin:INC
How do you treat Sideroblastic anemia
Pyridoxine B6 (cofactor for ALA synthase)
What levels are inc in folate deficiency
INC homocysteine
Normal Mehtylmalonic acid
What levels are inc in Cobalamin deficiency
INC homocysteine
INC methylmalonic acid
How does B12 deficiency cause neurologic issues
B12 is involved itn the fatty acid pathways and myelin synthesis
(can also causse reversible dementia)
How is B12 deficiency diagnosed
Schilling test
4 stage test to determin if cause is dietary deficiency or malabsorption
What causes Orotic aciduria
Inability to convert orotic acid to UMP
Auto recessive defect in UMP SYNTHASE
How does Orotic aciduria present in children
failure to thrive, developmental delay, and megalobalastic anemia refractory to folate and B12
NO HYPERAMMONEMIA
How can you differentia orotic aciduria due to UMP synthase and due to ornithine transcarbamylase deficiency
UMP synthase: No hyperammonemia
Ornithine transcarbamylase: Hyperammonemia
How do you treat orotic aciduria
uridine monphosphate or uridine triacetate to bypass mutated enzyme
What is the difference between megaloblastic and nonmegaloblastic anemia
Nonmegaloblastic: no hypersegemented neutrophils DNA synthesis is unimpaired
Megaloblastic: opposite ^