14 genes

Question 1

glu –> val on B-globin

Answer 1

SCA

Question 2

chain terminator creating premature stop codons

Answer 2

B- thalassemia

Question 3

splicing (also promotor mutation more w this type)

Answer 3

B+ thalassemia

Question 4

Β+ / β+

Answer 4

Bthalassemia major

Question 5

Β° / β°

Answer 5

Bthalassemia major

Question 6

Β+ / β°

Answer 6

Bthalassemia major

Question 7

Β+ / β

Answer 7

Bthalassemia minor

Question 8

Β° / β

Answer 8

Bthalassemia minor

Question 9

Α/α : -/-

Answer 9

cis deletions in a thalassemia trait

Question 10

Α/- : α/-

Answer 10

trans deletions in a thalassemia trait

Question 11

acquired mutation of pohsphatidylinositol glycan complementation Group A gene (PIGA).

Answer 11

Paroxysmal Nocturnal Hemoglobinuria (PNH)

*Only hemolytic anemia caused by an acquired genetic defect.

Question 12

TMPFSS6 mutation

Answer 12

this gene nmlly suppresses hepcidin.. so when mutated, a lot of hepcidin = anemia!

Question 13

Decreased ADAMTS13 (vWF metalloprotease)

Answer 13

Thrombotic Thrombocytopenic Purpura (TTP),

Question 14

Acquired or inherited defect of complement factor H (CD46) or factor I.

Answer 14

atypical Hemolytic Uremic Syndrome (HUS)

Question 15

point mutation in vWF that leads to problems with protein maturation or that causes rapid protein clearance from plasma (incomplete penetrance).

Answer 15

Type 1 Von Willebrand Disease

Question 16

frameshift or deletion mutation involving both alleles of vWF

Answer 16

Type 3 Von Willebrand Disease

Question 17

Missense mutations in vWF → defective multimer assembly (lack of large and intermediate multimers

Answer 17

Type 2 Von Willebrand Disease

Question 18

deletions, nonsense mutations that create stop codons, and mutations that cause errors in mRNA splicing

Answer 18

hemophilia A