Hemoglobinopathies

Question 1

Normal Hb is.. What chains

Answer 1

Alpha (2) and Beta (2) chains…

Question 2

How many copies of each gene?

Answer 2

2 copies of Alpha (Chr 18), 1 copy of Beta gene (Chr 11)

Question 3

HbA2 is… what chains

Answer 3

2 alpha and 2 Delta (About 3% Hb in an adult)

Question 4

HbF

Answer 4

2 alpha and 2 Gamma, Main Hb in fetus

Question 5

Hb SS (mutation)

Answer 5

Glu -> Val

Question 6

Hb C (Mutation)

Answer 6

Glu -> Lys

Question 7

Alpha Thalassemia

Answer 7

Low Alpha globin, Excess Beta globin, Deletion of Alpha gene, BOTH fetal and postnatal defects

Question 8

Beta Thalassemia

Answer 8

Low or No Beta Globin, Excess alpha globin. Postnatal Defects only, Deletion in LCR or beta gene cluster

Question 9

aa/aa

Answer 9

100% globin level, normal

Question 10

aa/-a

Answer 10

75% Globin, silent carrier

Question 11

aa/–

Answer 11

Alpha Thalassemia 1, 50%, Mild anemia, Common in SE asia, Deletion of both alpha genes in a cluster (on same gene)

Question 12

a-/a-

Answer 12

Alpha Thalassemia 2, 50%, mild anemia, Comon in Africa, Mediterranean, Deletion of 1 of 2 genes (On each Copy)

Question 13

a-/–

Answer 13

HbH, Severe anemia. 25%

Question 14

–/–

Answer 14

Hydropsis Fetalis, Not compatible with life

Question 15

HbH

Answer 15

a-/–, severe anemia

Question 16

Thalassemia Major

Answer 16

Type of Beta thal. No beta produced. Requires treatment. Bone marrow transplant is the only cure. Have severe anemia. Thin bone cortex

Question 17

Thalassemia Minor

Answer 17

Type of Beta Thal. Beta is still produced in low amount. No treatment necessary.

Question 18

Complex Delta/Beta Thalassemia.

Answer 18

Not as Bad as Beta Major b/c gamma Hb does’nt make the switch and stays producing. 5-18% normal function