RBC II, Putthoff, Hemophilias

Question 1

What is the most common hereditary disease assoc with life threatening bleeding

Answer 1

hemophilia A

Question 2

what is the mutation in hemophilia A

Answer 2

mutations in facotr VIII

Question 3

inhertiatnce hemophilia A

Answer 3

X linked recessive

Question 4

The severity of clinical signs of hemophilia A depends on what

Answer 4

level of facto VIII activity

Question 5

what percent of VIII activity constitutes moderately severe and mild levels hemophilia A

Answer 5

2-5% is moderately severe

6-50% mild

Question 6

most mutations with VIII causing hemophilia A are what

Answer 6

inversion involving the X chromosome that abolishes synthesis of factor VIII

Question 7

If immunoassay levels of VIII are normal is suspected hemophilia A case does this rule it out? why or why not?

Answer 7

no because can have point mutations that impair function

Question 8

Clinical Sx of hemophilia A

Answer 8

easy bruising and massive hemorrhage after trauma or operative procedures
spontaneous hemorrhages in areas susceptible to trauma, like joints

Question 9

PT and PTT of hemophilia A

Answer 9

prolonged PTT

normal PT

Question 10

what does the complex VIIIa/IXa do

Answer 10

activate X

Question 11

Tx hemophilia A

Answer 11

infusions of recombinant factor VIII

Question 12

therapeutic challenge in Tx hemophilia A

Answer 12

can develop Ab to the factor VIII since “never seen before”

Question 13

What is Hemophilia B causedby

Answer 13

factor IX deficiency

clinically indistinguishable from hemophilia A

Question 14

inheritance hemophlia B

Answer 14

x linked recessibe trait

Question 15

PT and PTT hemophilia B

Answer 15

PTT prolonged and PT normal

Question 16

how to Dx hemophilia B

Answer 16

assay of factor levels

Question 17

Tx hemophilia B

Answer 17

Tx with infusions of recombinant factor IX

Question 18

What is DIC

Answer 18

acute, subacute or chronic thrombohemorrhagic disorder characterized by the excessive activation of coagulation and the formation of thrombi in the microvasculature of the body

Question 19

What occurs to blood products in DIC

Answer 19

consumption of platelets, fibrin, coagulation factors

activation of fibrinolysis

Question 20

Signs and Sx DIC

Answer 20

tissue hypoxia and infarction caused by myriad microthrombi

Question 21

Is DIC a primary disease

Answer 21

no coagulopathy that occurs in course of variety of clinical conditions

Question 22

describe clotting in vivo

Answer 22

TF which combines with VII to activate X and IX
X–> thrombin which activates fibrinogen to fibrin which activates IX VIII and V to stimulate crosslinking and activate platelets

Question 23

what occurs to thrombin at distal sites from acute injury of vessels wall

Answer 23

binds thrombomodulin and becomes an anticoagulant

Question 24

what does thrombin-thrombomodulin do

Answer 24

activates protein C which inhibits V and VIII

Question 25

What factor is in blood to decrease blood clots

Answer 25

plasmin

Question 26

what 2 major mech trigger DIC

Answer 26

release of TF or other procoagulants and widespread injury to endothelial cells

Question 27

what is a state taht is at high risk DIC

Answer 27

widespread cancer | pregnancy

Question 28

What is an important mediator of endothelial injury

Answer 28

TNF

Question 29

DIC is most likely assoc with what

Answer 29

obstetric complications malignant neoplasms sepsis major trauma

Question 30

how can infections lead to DIC

Answer 30

endotoxins | Ag-Ab complexes that activate C'

Question 31

what cancers are most freq assoc with DIC

Answer 31

acute promyelocytic leukemia, adenocarcinomas of lung, pancrease, colon and stomach

Question 32

What are signs DIC

Answer 32

dyspnea, cyanosis, respiratory failure, convulsions, coma, oliguria, acute renal failure sudden progressive circulatory failure and shock

Question 33

Dx DIC based on

Answer 33

lab studies fibrinogen levels PT and PTT fibrin split products

Question 34

what are the consequences of DIC

Answer 34

1) deposition fibrin in microvasculature leading to ischemia and microangiopathic hemolytic anemia from fragmentation RBC 2) consumption of factors leads to hemorrhagic diathesis

Question 35

What is kasabach-Merritt syndrome

Answer 35

unusual form DIC in assoc with giant hemagiomas | thrombi form in neoplasm because stasis and recurrent trauma to fragile blood vessels

Question 36

who are more severely affected by hemophilia disorders male or females?

Answer 36

males because only have one X

Question 37

most common adverse reaction to transufions

Answer 37

febrile nonhemolytic reaction

Question 38

what are signs febrile nonhemolytic reaction from transfusion

Answer 38

fever chills | mild dyspnea within 6 hrs

Question 39

what causes febrile nonhemolytic reaction from transufion

Answer 39

inflammatory mediators from donot leukocytes

Question 40

what is Tx for febrile nonhemolytic reaction

Answer 40

antipyretics | shortlived Sx

Question 41

When can severe allergic reactions occur after transufion

Answer 41

when blood with Ag is given to previously sensitized patient

Question 42

most common patients to have severe allergic rxn to transfusion

Answer 42

IgA deficiency | IgG Ab recognize IgA in infused blood

Question 43

What cause the urticarial allergic reactions after transfusions

Answer 43

donated blood recognized by IgE Ab in recipient

Question 44

Acute hemolytic reactions to transfusions are caused by what

Answer 44

preformed IgM Ab against donor RBC that fix C' | usually from error in tube labeling (ABO compatability)

Question 45

IgM Ab in acute hemolytic rxns cause what

Answer 45

C' mediated lysis, intravascular hemolysis, hemoglobinuria

Question 46

what are Sx acute hemolytic rxn

Answer 46

fever, shaking chills and flank pain appear rapidly

Question 47

Dx of acute hemolytic rxn?

Answer 47

direct Coombs test

Question 48

rapidly progressing acute hemolytic rxn can lead to

Answer 48

DIC shock acute renal failure and death

Question 49

What are delayted hemolytic reactions to transfusions caused by

Answer 49

Ab that recognize RBC Ag that recipient was previously sensitized to IgG

Question 50

Dx delaye hemolytic rxns transfusion

Answer 50

direct coombs | laboratory features of hemolysis: low haptoglobin and elevated LDH

Question 51

Ab to what Ag can cause severe near fatal reactions from transfusions

Answer 51

Rh Kell and Kidd | activate C'

Question 52

What is Transfusion related Acute Lung Injury

Answer 52

severe frequently fatal complication from activation of neutrophils in lung microvasculature

Question 53

What patients are at higher risk for transfusion lung injury

Answer 53

preexisiting lung disease

Question 54

What is current idea behind trasnfusion lung injury

Answer 54

2 hit hypothesis 1) priming that inc sequestration and sesitization of neutrophils in microvasc of lung 2) neutrophils activated by factor in the trasnfused blood product

Question 55

What are the most common Ab associated with transfusion acute lung injury

Answer 55

those that bind MHC Ag (MHC I) | usually multiparous women

Question 56

What types of blood products have higher neutrophil specific Ag

Answer 56

fresh frozen plasma and platelets

Question 57

what is clnical presentation of transfusion related acute lung injury

Answer 57

dramatic with sudden onset respiratory failure, during or soon after a transfusion diffuse b/l pulmonary infiltrates that do not respond to diuretics fever hypotension, hypoxemia

Question 58

Tx transfusion related lung injury

Answer 58

supportive and outcome is guarded (>50% in severely ill patients)

Question 59

What type infections are complications in transfusions

Answer 59

infectious-bacterial or viral

Question 60

significant bacterial infections in transfusions mroe likley in what prepartaion

Answer 60

platelet because stored at room temp

Question 61

Sx bacterial infection from transfusion

Answer 61

fever chills hypotension

Question 62

what viruses can be trasnmitted in transfusions

Answer 62

HIV Hep C and B | West nile, trypanosomiasis and babesiosis