Haematology - G6PDH Deficiency Flashcards
How is G6PDH inherited?
X linked recessive pattern
Usually affects men as only single X chromosome
What are G6PDH crises triggered by?
Infections
Medications
Fava beans
What is a key presentation of G6PDH?
Jaundiced and anaemic after eating broad beans
Developing infection
Treated with antimalarials
What is the pathophysiology of G6PDH deficiency?
G6PD helps protect cells from damage by reactive oxygen species
G6PD deficiency makes cells more vulnerable to ROS leading to RBC haemolysis
What causes an increase in ROS?
Produced during normal cell metabolism
Cellular stress
What can periods of increased stress lead to?
Higher ROS production
Can lead to acute haemolytic anaemia
How does G6PDH often present?
Neonatal jaundice
What are some features of G6PDH deficiency?
Anaemia
Intermittent jaundice
Gallstones
Splenomegaly
What is seen on blood film?
Heinz bodies
Blobs of denatured Hb seen within RBCs
How is G6PDH diagnosed?
G6PD enzyme assay
How is G6PDH managed?
Avoid triggers to acute haemolysis e.g. fava beans, medications and stress
What medications can trigger haemolysis?
Primaquine
Ciprofloxacin
Nitrofurantoin
Trimethoprim
Sulfonylureas (e.g. gliclazide)
Sulfasalazine and other sulphonamide drugs
