Hemolytic anemia 2

Question 1

thalassemia

Answer 1

genetic decreased synthesis of alpha or beta global chains

Question 2

alpha genes

Answer 2

chromosome 16

4 genes

Question 3

beta genes

Answer 3

chromosome 11

2 genes

Question 4

secondary hemochromatosis

Answer 4

iron accumulation

Question 5

immunohemolytic anemia

Answer 5

RBC coated with antibodies or complement and removed by spleen

Question 6

types of immunohemolytic anemia

Answer 6

warm antibody type
cold agglutinin type
cold hemolysis type

Question 7

warm antibody type immunohemolytic anemia

Answer 7

IgG 37C
microspherocytes
antibody specific for Rh antigens
diagnosed via Direct Coombs test

Question 8

cold agglutinin type immunohemolytic anemia

Answer 8

IgM

Question 9

acute cold agglutinin type

Answer 9

mycoplasma
mononucleosis (EBV)
CMV
influenza
HIV

Question 10

chronic cold agglutinin type

Answer 10

idiopathic

lymphoma

Question 11

cold hemolysis type immunohemolytic anemia

Answer 11

IgG

Question 12

beta thalassemia

Answer 12

decreased synthesis of beta global chain

Question 13

mutations associated with beta thalassemia

Answer 13

beta0- no chains due to chain termination mutations

beta+- reduced number of chains due to splicing or promoter region mutations

Question 14

Major thalassemia

Answer 14

Cooley’s anemia

2 thalassemia alleles

Question 15

pathogenesis of major beta thalassemia

Answer 15

reduced beta synthesis with excessive alpha production
insoluble alpha aggregates form causing ineffective erythropoiesis– most cells die
abnormal cells that get out cause extravascular hemolysis which leads to anemia and tissue hypoxia
marrow expands to compensate which leads to skeletal deformities

Question 16

diagnostic findings for beta thallasemia

Answer 16

increased RBC#
decreased MCV, MCH, MCHC
normal RDW
hypo chromic
microcytic
target cells
increased HbA2

Question 17

complications of beta thalassemia major

Answer 17

skeletal abnormalities–new bone formation in the outer table –> perpendicular skull radiations

Question 18

treatment of beta thalassemia major

Answer 18

marrow transplant

Question 19

minor thalassemia

Answer 19

heterozygous thalassemia alleles

Question 20

alpha thalassemia

Answer 20

alpha global gene deletions

severity depends on number of genes affected

Question 21

1 mutation alpha thalaseemia

Answer 21

silent carrier- normal

Question 22

2 mutation alpha thalassemia

Answer 22

trait
microcytosis
hypochromia
mild anemia

Question 23

3 mutation alpha thalassemia

Answer 23

HbH disease
excess beta microcytic hypo chromic hemolytic anemia
mild jaundice
moderate hepatosplenomegaly

Question 24

4 mutation alpha thalassemia

Answer 24

Hb Bart Hydrops Fettles syndrome
excess gamma with high O2 affinity
severe anemia
ascities/edema
hepatosplenomegaly
skeletal and CV malformations
die in utero

Question 25

paroxysmal nocturnal hemoglobinuria

Answer 25

rare acquired stem cell disease with somatic mutations affecting RBC membrane PIG-A defect for RBC anchor GPI

Question 26

consequences of PNH

Answer 26

sensitive to complement mediated lysis proteins cannot attach to cell periodic episodes of night time bloody urine

Question 27

diagnostic test for PNH

Answer 27

acidified serum test sucrose hemolysis test flow cytometry

Question 28

treatment for PNH

Answer 28

marrow transplant growth factors anti-complement antibody to reduce hemolysis

Question 29

acidified serum test

Answer 29

for PNH | acidified serum activates the alternative complement pathway which causes lysis

Question 30

sucrose hemolysis test

Answer 30

for PNH | sucrose promotes complement binding which leads to lysis

Question 31

flow cytometry

Answer 31

``` for PNH looks at cell types that could be missing GPI granulocytes monocytes lymphocytes RBC missing CD55 and CD59 ```

Question 32

microangiopathic hemolytic anemia (MAHA)

Answer 32

damage to red cells via contact with dense fibrin strands

Question 33

causes of MAHA

Answer 33

``` DIC thrombotic thrombocytopenia purport hemolytic uremia syndrome SLE malignant HTN ```

Question 34

diagnostic features of MAHA

Answer 34

schistocytes

Question 35

treatment for warm antibody hemolytic anemia

Answer 35

corticosteroids | splectomy, rituximab

Question 36

drug related hemolytic anemia- happen/drug adsorption

Answer 36

drug binds to RBC and IgG formed against it

Question 37

drug related hemolytic anemia- immune complex

Answer 37

IgM forms after exposure to drug | further exposure leads to drug and antibody adsorbing to RBC

Question 38

drug related hemolytic anemia- autoantibody formation

Answer 38

IgG forms to drug, possible Rh specificity

Question 39

Direct Coombs test

Answer 39

distinguishes immune from non immune hemolytic anemias | antibody on cells agglutinate when exposed to antihuman antibody

Question 40

diagnostic markers of cold agglutinin syndrome

Answer 40

red cell agglutinates | rouleaux

Question 41

paroxysmal cold hemoglobinuria

Answer 41

intravascular hemolysis when exposed to cold due to IgG agasint P antigen antibody and early complement bind at low temperatures and then terminal complement binds with warming which causes lysis

Question 42

PCH associated with

Answer 42

ssyphillis | viral infection in kids

Question 43

diagnostic testing of PCH

Answer 43

Donath-Landsteiner test

Question 44

Donati-Landsteiner test

Answer 44

for PCH RBC and complement mixed at low temps--bind warm --> intravascular hemolysis