Chap-18

Question 1

What is Thalassemia?

Answer 1

Quantative defect in making globin subunit (reduced or absence)

Question 2

What types alpha thalaessemia exist?

Answer 2

(- -/a a) a0
(-a/-a) a+
(aa/-a) asilent
(at-a) is point mutation

Question 3

What makes someone show they have a-thalassemia minor?

Answer 3

2 a gene deleted : either a0 or a+
\: Hb low
\: Low MCV
\: Low MCH
\: Iron normal
\: HPLC is normal
\: Hb F and A2 normal

Question 4

What makes someone show they have a-thalassemia silent?

Answer 4

1 gene deleted
(a-/aa)
\: Hb low
\: Low MCV
\: Low MCH
\: Iron normal
\: HPLC normal

Question 5

Hb barts

Answer 5

delete all 4 genes = fatal at birth, no A F or A2, and excess gama present

Question 6

Hb H

Answer 6

3 genes deleted (--/-a)
\: Low Hb
\: Low MCV
\: Low MCH
\: Inc RDW
\: Inc RBC

Question 7

What makes the difference between a and b - thalassemias?

Answer 7

b thalassemia have abnormal F A2 and HPLC peaks

Question 8

Which type of thalassemia protects against malarai?

Answer 8

B-

Question 9

What are characiteristics of b0 thalassemia?

Answer 9

Major F peak
Absence A peak
Variable A2 peak

Question 10

What are the characteristics of b+

Answer 10

Low Hb A peak
Large F peaks
Large A2 peak

Question 11

what are the characteristics of b minor

Answer 11

Low Hb
Low MCV
Low MCH
Normal RDW