Hemoglobinopathies

Question 1

Sickle cell disease

Answer 1

No Hgb A produced, 80% Hgb S and 20% Hgb F, sickled RBCs, target cells, nRBCs, Pappenheimer bodies, Howell-Jolly bodies

Question 2

Sickle trait

Answer 2

60% Hgb A, 40% Hgb S, no clinical symptoms unless in crisis state

Question 3

Hgb C disease

Answer 3

90% Hgb C, 7% Hgb F, 2% Hgb A2, target cells, rod like C crystals

Question 4

Hgb SC disease

Answer 4

50% Hgb S, 50% Hgb C, target cells, SC crystals, rare sickle cells or C crystals

Question 5

Hgb E

Answer 5

Target cells, microcytes

Question 6

Hgb D

Answer 6

Asymptomatic

Question 7

Beta-thalassemia major

Answer 7

No Hgb A, up to 90% Hgb F
Microcytic hypochromic anemia, Heinz bodies, target cells, teardrops, nRBCs, basophilic stippling, Howell-Jolly bodies, Pappenheimer bodies

Question 8

Beta-thalassemia minor

Answer 8

Decreased synthesis of one beta chain, others normal

Microcytic hypochromic anemia, target cells, basophilic stippling

Question 9

Alpha thalassemia major

Answer 9

All 4 alpha genes deleted, 80% Hgb Bart’s (4 gammas), incompatible with life

Question 10

Alpha-thalassemia Hgb H disease

Answer 10

3 alpha genes deleted, beta chain excess, Hgb H (4 beta chains) is unstable, Heinz bodies, microcytic hypochromic anemia

Question 11

Alpha-thalassemia minor/trait

Answer 11

2 alpha genes deleted, asymptomatic, up to 6% Hgb Bart’s at birth but gone after 3 months

Question 12

Alpha-thalassemia silent carrier

Answer 12

One alpha genes deleted, asymptomatic

Question 13

Hgb electrophoresis on Cellulose acetate (pH 8.6)

Answer 13

Cathode(-)            Anode(+) 
    Origin    A2  S  F  A
                  C    D
                  E     G
                  O

Question 14

Hgb electrophoresis on citrate agar (pH 6.2)

Answer 14

Anode(+)             Cathode(-)
       C   S  origin    A   F
                              A2
                               D
                               G
                               E
                               O