Haemoglobinopathy

Question 1

A2 in B trait

Answer 1

3.5-8%

Question 2

A2 in E trait

Answer 2

35%

Question 3

Hb lepore A2 peak

Answer 3

Looks pregnant (2nd peak subtle)
Max A2 15%

Will have microcytic hypochromic

Question 4

What can raised A2 be in B chain variant

Answer 4

Glycosylated variant chain

Question 5

A2 in HPFH heterozygous

Answer 5

Low (monoallelic delta deletion)

Question 6

Hb retention times HPLC

Answer 6

F - 0.98-1.2
A0 - 1.9-3.1
A2 - 3.3-3.9
D - 3.9-4.3
S - 4.3-4.7
C - 4.9-5.3

Question 7

Convincing B12 deficiency with normal B12

Answer 7

Check holocobalamin, check serum methylmalonic acid (MMA)

MMA raised in B12 dysfunction