Hb Disorders

Question 1

What are the three most common porphyria’s

Answer 1

Acute - AIP
Blistering - PCT
Non blistering - erythropoietic porphyria

Question 2

What enzymes are deficient in AIP AND PCT?

Answer 2

AIP - porphobilinigen deaminase
PCT - UROD uroporphyrinogen decarboxylase

Question 3

How do you test for porphyria (4)

Answer 3

1) screen urine PBG
2) serum or fecal porphyrins
3) ALAD levels
4 genetic testing

Question 4

Treatment of AIP

Answer 4

• glucose
• hemin

Question 5

Treatment of PCT

Answer 5

• sun avoidance
• therapeutic phlebotomy (ferritin <20)

Question 6

Indications for transfusion in sickle cell disease

Answer 6

1) refractory VOC
2) splenic sequestration / aplastic crisis
- simple transfusion to Hb >9

3) acute chest syndrome
4) CVA / retinal occlusion
- transfusion or exchange
- HbSS goal <30%

Question 7

Common alloatigens for chronic transfusion

Answer 7

Rh (E e C c)
Kell

Question 8

Methemoglobin causes (3)

Answer 8

1) congenital hemoglobin mutations (HbM)
2) congenital cytochrome b5 reductase
3) oxidizing agents
- benzocaine
- dapsone

Question 9

hb electrophoresis in severe alpha thal

Answer 9

Increased
Hb Barts (y4)
Or
HbH (b4)

Question 10

Hb electrophoresis in beta thal

Answer 10

Increase HbA2 (a2d2)

Question 11

What is hemoglobin Constant Spring

Answer 11

A non deletional alpha globin mutation often leading to a TDT