Heme/Onco II

Question 1

thalassemia

Answer 1

microcytic anemia

Question 2

a-thalassemia

Answer 2

defect a-globin gene defect

cis deletion - asian
trans deletion - AA

severity - based on number of deletions

Question 3

4 allele deletion a-thalassemia

Answer 3

see Hb barts - gamma 4

hydrops fetalis

Question 4

3 allele deletion a-thalassemia

Answer 4

HbH disease

little a-globin

excess B-globin - HbH

Question 5

B-thalassemia

Answer 5

point mutation splice site - promoter sequences
-decreased B-globin synthesis

mediterranean populations

Question 6

B-thal minor

Answer 6

heterozygote

low B-chain

increased HbA2

Question 7

B-thal major

Answer 7

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

Question 8

lead poisoning

Answer 8

lead inhibit ferrochelatase and ALA dehydratase

decrease heme synthesis
increased RBC protoporphyrin

see basiphilic stippling

buron lines - gingiva

Question 9

tx of lead poison

Answer 9

chelation
dimercaprol and EDTA

succimer in kids

Question 10

sideroblastic anemia

Answer 10

defective heme synthesis
X-linked
defect d-ALA synthase

get ringed sideroblasts with iron mito

tx - pyridoxine

Question 11

pyridoxine

Answer 11

vit B6

cofactor for d-ALA synthase

Question 12

B12 vs. folate deficiency

Answer 12

B12 - brain - neuro sx

folate - no neuro sx

Question 13

diphyllobothrium latum

Answer 13

fish tapeworm

lead to B12 deficient

Question 14

orotic aciduria

Answer 14

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)

Question 15

normocytic anemias

Answer 15

hemolysis - intra and extravascular

anemia of chronic disease

aplastic anemia

Question 16

LDH

Answer 16

marker for hemolysis - elevated

Question 17

anemia of chronic disease

Answer 17

inflammation - increased hepcidin - inhibit iron transport

decreased iron
decreased TIBC
increased ferritin

tx - EPO - if chronic kidney disease

Question 18

aplastic anemia

Answer 18

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

Question 19

aplastic anemia drugs

Answer 19

benzene
chloramphenicol
alkylating agent
antimetabolite

Question 20

hereditary spherocytosis

Answer 20

defect ankyrin, band 3, protein 4.2, spectrin

small round RBC

elevated MCHC and RDW

tx - splenectomy

Question 21

osmotic fragility test

Answer 21

diagnosis heredtiary spherocytosis

Question 22

G6PD deficiency

Answer 22

X-linked recessive

heinz body and bite cells

Question 23

pyruvate kinase deficiency

Answer 23

auto rec
decreased ATP - rigid RBC

hemolytic anemia in newborn

Question 24

HbC defect

Answer 24

glutamic acid to lysine mutation - B-globin

Question 25

paroxysmal nocturnal hemoglobinuria

Answer 25

complement mediated RBC lysis impaired GPI anchor that protect from complement CD55/59 negative

Question 26

eculizumab

Answer 26

terminal complement inhibitor tx for paroxysmal nocturnal hemoglobinuria

Question 27

sickle cell anemia

Answer 27

point mutation -glutamic acid to valine - B-chain deox - HbS sickles newborn - asymptomatic - bc high HbF crew cut on X-ray - marrow expansion

Question 28

heterozygote for HbS

Answer 28

resistant to malaria

Question 29

autosplenectomy

Answer 29

with sickle cell disease infection with encapsulated organisms

Question 30

osteomyelitis in sickle cells

Answer 30

salmonella

Question 31

tx sickle cells

Answer 31

hydroxyurea - increases HbF and hydration

Question 32

warm agglutinin

Answer 32

IgG chronic anemia with SLE and CLL

Question 33

cold aggultinin

Answer 33

IgM -anemia with cold CLL, mycoplasma pneumona, nononucleosis

Question 34

coombs test

Answer 34

determine autoimmune hemolytic anemia determine anti-Ig Abs on RBCs direct and indirect

Question 35

microangiopathic anemia

Answer 35

RBC damaged passing narrow lumen DIC, TTP/HUS, SLE, malignant HTN see schistocytes also with prosthetic heart valve

Question 36

destruction of RBC infections

Answer 36

malaria and babesia

Question 37

anemia lab values

Answer 37

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

Question 38

circulating iron

Answer 38

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

Question 39

anemia of chronic disease

Answer 39

low serum iron low transferrin high ferritin