Heme/Onco II Flashcards Preview

Board Review - C - Heme/Oncology > Heme/Onco II > Flashcards

Flashcards in Heme/Onco II Deck (39)
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

osteomyelitis in sickle cells

salmonella

31

tx sickle cells

hydroxyurea - increases HbF

and hydration

32

warm agglutinin

IgG

chronic anemia with SLE and CLL

33

cold aggultinin

IgM
-anemia with cold

CLL, mycoplasma pneumona, nononucleosis

34

coombs test

determine autoimmune hemolytic anemia

determine anti-Ig Abs on RBCs

direct and indirect

35

microangiopathic anemia

RBC damaged passing narrow lumen

DIC, TTP/HUS, SLE, malignant HTN

see schistocytes

also with prosthetic heart valve

36

destruction of RBC infections

malaria and babesia

37

anemia lab values

TIBC - indirect measure of transferrin
transferrin - transport
ferritin - iron storage protein

38

circulating iron

needed by pathogens to survive
-so body developed way to store iron

39

anemia of chronic disease

low serum iron
low transferrin
high ferritin