Flashcards in Heme/Onco II Deck (39)
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1
thalassemia
microcytic anemia
2
a-thalassemia
defect a-globin gene defect
cis deletion - asian
trans deletion - AA
severity - based on number of deletions
3
4 allele deletion a-thalassemia
see Hb barts - gamma 4
hydrops fetalis
4
3 allele deletion a-thalassemia
HbH disease
little a-globin
excess B-globin - HbH
5
B-thalassemia
point mutation splice site - promoter sequences
-decreased B-globin synthesis
mediterranean populations
6
B-thal minor
heterozygote
low B-chain
increased HbA2
7
B-thal major
homoygote
B-chain absent
severe anemia - need transfusions
risk of parvo B19 infection
increased HbF - a2 g2 - protective in infant - symptomatic at 6 months
marrow expansion - crew cut - like with sickle cell
8
lead poisoning
lead inhibit ferrochelatase and ALA dehydratase
decrease heme synthesis
increased RBC protoporphyrin
see basiphilic stippling
buron lines - gingiva
9
tx of lead poison
chelation
dimercaprol and EDTA
succimer in kids
10
sideroblastic anemia
defective heme synthesis
X-linked
defect d-ALA synthase
get ringed sideroblasts with iron mito
tx - pyridoxine
11
pyridoxine
vit B6
cofactor for d-ALA synthase
12
B12 vs. folate deficiency
B12 - brain - neuro sx
folate - no neuro sx
13
diphyllobothrium latum
fish tapeworm
lead to B12 deficient
14
orotic aciduria
cannot convert orotic acid to UMP
-de novo pyrimidine synthesis
defect UMP synthase
auto rec
tx - uridine monophosphate - bypass mutated euzyme
no hyperammoniemia (vs. OTC deficiency)
15
normocytic anemias
hemolysis - intra and extravascular
anemia of chronic disease
aplastic anemia
16
LDH
marker for hemolysis - elevated
17
anemia of chronic disease
inflammation - increased hepcidin - inhibit iron transport
decreased iron
decreased TIBC
increased ferritin
tx - EPO - if chronic kidney disease
18
aplastic anemia
failure of myeloid stemo cells
-radiation and drugs
-viral
-fanconi - DNA repair defect
get pancytopenia
-dry bone marrow tap
tx - RBC/platelet transfusion or GM-CSF
19
aplastic anemia drugs
benzene
chloramphenicol
alkylating agent
antimetabolite
20
hereditary spherocytosis
defect ankyrin, band 3, protein 4.2, spectrin
small round RBC
elevated MCHC and RDW
tx - splenectomy
21
osmotic fragility test
diagnosis heredtiary spherocytosis
22
G6PD deficiency
X-linked recessive
heinz body and bite cells
23
pyruvate kinase deficiency
auto rec
decreased ATP - rigid RBC
hemolytic anemia in newborn
24
HbC defect
glutamic acid to lysine mutation - B-globin
25
paroxysmal nocturnal hemoglobinuria
complement mediated RBC lysis
impaired GPI anchor that protect from complement
CD55/59 negative
26
eculizumab
terminal complement inhibitor
tx for paroxysmal nocturnal hemoglobinuria
27
sickle cell anemia
point mutation
-glutamic acid to valine - B-chain
deox - HbS sickles
newborn - asymptomatic - bc high HbF
crew cut on X-ray - marrow expansion
28
heterozygote for HbS
resistant to malaria
29
autosplenectomy
with sickle cell disease
infection with encapsulated organisms
30
