chapter 5-3

Question 1

Thalassemia is what type of anemia?

Answer 1

microcytic hypochromic target cell with nucleated RBCs

Question 2

thalassemia is caused from?

Answer 2

decrease in SYNTHESIS of gloin chains

Question 3

mutation resulting at thalassemia protects patient against

Answer 3

malaria= Plasmodium falciparum

Question 4

HbF

Answer 4

fetal hemoglobin alpha2 gamma 2

adult only 2.5%

Question 5

HbA

Answer 5

adult Hg= Alpha 2 beta 2

Question 6

HbA2

Answer 6

alpha 2 and delta 2

adult normally on 1%

Question 7

alpha thalassemia

Answer 7

gene DELETION. there are 4 genes on chromosome 16 –x—x—, —-x—x–

Question 8

1 gene deleted on alpha thalassemia

Answer 8

1 geen missing from chrom 16 is asymptomatic

Question 9

2 genes deletec on alpha thalassemia

Answer 9

mild anemia increase RBC have cis or trans configuration

Question 10

Cis alpha thalassemia

Answer 10

on the same chromosome= More in ASIANS

Question 11

worse of the alpha thalassemia

Answer 11

Cis configuration

Question 12

Trans alpha thalassemia

Answer 12

more comon in affrica.

Question 13

3 genes deleted in alpha thalassemia

Answer 13

B chains form tetramers called HbH damage the Rbcs

Question 14

B thalassemia mutation

Answer 14

gene MUTATION in the promoter. Chromosome 11 2 genes

Question 15

B thalassemia minor

Answer 15

B/B+ asymptomatic with Increase RBC count

increase HbA2 normally only 2.5% they have 5% and HbF normal 1% they have 2%

Question 16

B thalassemia major

Answer 16

B0/B0 severe anemia after birth when HbF gone. Alpha tetramers damage RBCs and extravascular hemolysis. NO HbA

Question 17

clinical presentationo of Beta Thal Major

Answer 17

massive erythroid hyperplasia

• crewcut- hematopoiesis in skull and facial bone chipmunk
• extramedullary hematopoiesis and hepatsplenomegaly
• risk of aplastic crisis if Parvo infectino