Haemolytic Anaemia Flashcards
What are the 2 types of inherited disorder that cause haemolysis?
Membrane disorders
Enzyme disorders
Name a membrane disorder?
Hereditary spherocytosis
Name an enzyme disorder?
G-6-P deficiency
Pyruvate kinase deficiency
What do both types of disorders cause in neonates?
Important in DDx of neonatal jaundice
What type of inheritence is hereditary spherocytosis?
Autosomal dominant
What genes are affected is HS?
Ankyrin
Alpha/beta spectrin
Band 3
Typical presentation of HS?
” 10 y/o boy presents with fatigue, malaise and pallor. He is very unwell. O/e he has splenomegaly. Initial bloods show severe anaemia and blood film shows spherocytes. Over the next two weeks he tests +ve for parovirus. “
What is parovirus?
A virus that causes severe anaemia in HS
Symptoms of HS?
Jaundice
Pallor
Fatigue
Splenomegaly
Investigations of HS?
FBC
Reticulocyte count
Peripheral blood smear
COOMBS TEST
What is shown on peripheral blood smear?
Spherocytes
What test should be done to rule out autoimmune haemolysis?
DAT
direct anti-globulin test
Treatment of HS?
RBC infusions in kids
Folic acid
What type of inheritance is G-6-P deficiency?
X linked
What is the pathology of G-6-P d?
Lack of G-6-P –> accumulation of glutathione and ROS causing oxidative stress of the RBC
How is haemolysis triggered in G-6-Pd?
Drugs
Broad beans
What drugs trigger haemolysis in g-6-p d?
Primiquine
Ciprofloxacin
Sulph group drugs
Typical presentation of G6Pd?
” 18 y/o greek man presents with severe nausea. He recently attended a garden party where he consumed broad beans. O/e he is severely dehydrated and blood tests show a Hb of 51. “
Symptoms G6PD def?
Jaundice
Dark urine
Pallor
Investigations for G6PD def?
FBC
Reticulocyte count (raised)
Blood film
Coombs +Ve
G-6-PD tests
DAT
What is seen on blood film in G-6-PD def?
Heinz bodies
Treatment G-6-PD?
Supportive
Folic acid
Blood transfusions
What is the inheritance of pyruvate kinase deficiency
Autosomal recessive
What are the main causes of intravascular haemolysis?
G-6-P D
Cold autoantibody autoimmune haemolysis
Paroxysmal nocturnal haemoglobinaemia
What will be seen on blood film in intravascular haemolysis?
Schistocytes
What blood test indicates intravascular haemolysis?
Haptoglobin
If low = intravascular as haptoglobin binds free haemoglobin in the blood
What are the 2 divisions of extravascular haemolysis?
Intrinsic
Extrinsic
What are the main causes of intrinsic extravascular haemolysis?
Sickle cell
Hereditary spherocytosis
What are the main causes of extrinsic extracellular haemolysis?
Infection
Warm autoantibodies
Lead poisoning
