Metabolic Red Cell Disorders

Question 1

What does the hexose monophosphate pathway do?

Answer 1

Provides NADPH to keep GSH in a reduced state

Question 2

What is the Emben-Meyerhof pathway?

Answer 2

Glycolysis

Question 3

Which cells indicate oxidative damage to the red cell?

Answer 3

Heinz bodies

Question 4

What occurs when there is deficient stores of GSH?

Answer 4

Rigidity of membrane due to cross linking of spectrin

Oxidation of Hb to methaemaglobin

Question 5

Why is G6PD necessary?

Answer 5

To provide NADPH

Question 6

Where is the G6PD gene located?

Answer 6

Chromosome Xq28

Question 7

How does pyruvate kinase deficiency appear on investigation?

Answer 7

Anaemia - FBC
Blood film shows prickle cells and Reticulocytosis
O2 curve shifts to the right

Question 8

How is pyruvate kinase def treated?

Answer 8

Blood transfusions during infections and pregnancy

Splenectomy if requiring several transfusions

Question 9

How is pyrimidine 5’ nucelotidase def inherited?

Answer 9

AD

Question 10

What is pyrimidine 5’ nucelotidase def?

Answer 10

Allows accumulation of partially degraded RNA