Blood Disorders

Question 1

Inheritance of Sickle Cell Anemia

Answer 1

AR

Question 2

Most common point mutation in Sickle Cell Anemia

Answer 2

Glu6Val

Question 3

3 features of Sickle Cell Anemia

Answer 3

Anemia, painful abdominal/bone crises, predisposed to fever/infection

Question 4

Long term treatment of sickle cell anemia

Answer 4

Blood transfusions, surgeries

Question 5

Sickle Cell Carrier Hb Electrophoresis

Answer 5

MCV <80, presence of abnormal Hb (S,C,E)

Question 6

Inheritance of Beta Thal

Answer 6

AR

Question 7

What age does Beta Thal come to attention

Answer 7

6-12 months

Question 8

What clinical features do infants with beta thal have?

Answer 8

Pallor, jaundice, irritability, FF, HSM

Question 9

What clinical features to adults with beta thal have?

Answer 9

Severe anemia (Heinz bodies), BM hypoplasia, splenomegaly, growth retardation, cardiac failure

Question 10

Beta thal (major) carrier Hb Electrophoresis

Answer 10

MCV <80, Increased HbA2 (>3/5%), possible increased Hb F (>2%)

Question 11

Treatment for beta thal

Answer 11

Routine transfusions with secondary chelation therapy

Question 12

Inheritance of alpha thal

Answer 12

Complex (depends on number of working copies)

Question 13

Clinical features of HbH

Answer 13

Anemia, HSM, jaundice, overgrowth of upper jaw and prominent forehead

Question 14

Clinical features of Hb Barts

Answer 14

Hydrops, severe anemia, HSM, CHD, GU anomalies

Question 15

Treatment for HbH disease

Answer 15

Intrauterine blood transfusion (and continue after birth)

Question 16

Inheritance of Hemophilia

Answer 16

XLR

Question 17

What factor is deficient in Hemophilia A

Answer 17

F8

Question 18

What factor is deficient in Hemophilia B

Answer 18

F9

Question 19

Clinical features of hemophilia

Answer 19

Easy bruising, hemorrhage, epistaxis, hematuria, bleeding into joints

Question 20

How should you start molecular testing for hemophilia A

Answer 20

Mutation analysis for inv in intron 22 and inv in intron 1

Question 21

How should you start molecular testing for hemophilia B

Answer 21

Sequencing entire gene

Question 22

Treatment for Hemophilia

Answer 22

Routine administration of factor concentrate

Question 23

Complications of treatment for hemophilia

Answer 23

Hemophilic inhibitors, contaminated concentrates, complications of venous access devices

Question 24

Inheritance of type 1 VWD

Answer 24

AD

Question 25

Inheritance of type 2N and type 3 VWD

Answer 25

AR

Question 26

Clinical features of VWD

Answer 26

Bruising, muco-cutaneous bleeding, prolonged bleeding after surgery, menorrhagia, no joint bleeding

Question 27

Most common treatment for VWD

Answer 27

DDAVP