Haemolytic Anaemia

Question 1

What are the 2 types of inherited disorder that cause haemolysis?

Answer 1

Membrane disorders

Enzyme disorders

Question 2

Name a membrane disorder?

Answer 2

Hereditary spherocytosis

Question 3

Name an enzyme disorder?

Answer 3

G-6-P deficiency

Pyruvate kinase deficiency

Question 4

What do both types of disorders cause in neonates?

Answer 4

Important in DDx of neonatal jaundice

Question 5

What type of inheritence is hereditary spherocytosis?

Answer 5

Autosomal dominant

Question 6

What genes are affected is HS?

Answer 6

Ankyrin
Alpha/beta spectrin
Band 3

Question 7

Typical presentation of HS?

Answer 7

” 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. “

Question 8

What is parovirus?

Answer 8

A virus that causes severe anaemia in HS

Question 9

Symptoms of HS?

Answer 9

Jaundice
Pallor
Fatigue
Splenomegaly

Question 10

Investigations of HS?

Answer 10

FBC
Reticulocyte count
Peripheral blood smear

COOMBS TEST

Question 11

What is shown on peripheral blood smear?

Answer 11

Spherocytes

Question 12

What test should be done to rule out autoimmune haemolysis?

Answer 12

DAT

direct anti-globulin test

Question 13

Treatment of HS?

Answer 13

RBC infusions in kids

Folic acid

Question 14

What type of inheritance is G-6-P deficiency?

Answer 14

X linked

Question 15

What is the pathology of G-6-P d?

Answer 15

Lack of G-6-P –> accumulation of glutathione and ROS causing oxidative stress of the RBC

Question 16

How is haemolysis triggered in G-6-Pd?

Answer 16

Drugs

Broad beans

Question 17

What drugs trigger haemolysis in g-6-p d?

Answer 17

Primiquine
Ciprofloxacin
Sulph group drugs

Question 18

Typical presentation of G6Pd?

Answer 18

” 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. “

Question 19

Symptoms G6PD def?

Answer 19

Jaundice
Dark urine
Pallor

Question 20

Investigations for G6PD def?

Answer 20

FBC
Reticulocyte count (raised)
Blood film

Coombs +Ve
G-6-PD tests
DAT

Question 21

What is seen on blood film in G-6-PD def?

Answer 21

Heinz bodies

Question 22

Treatment G-6-PD?

Answer 22

Supportive
Folic acid

Blood transfusions

Question 23

What is the inheritance of pyruvate kinase deficiency

Answer 23

Autosomal recessive

Question 24

What are the main causes of intravascular haemolysis?

Answer 24

G-6-P D
Cold autoantibody autoimmune haemolysis
Paroxysmal nocturnal haemoglobinaemia

Question 25

What will be seen on blood film in intravascular haemolysis?

Answer 25

Schistocytes

Question 26

What blood test indicates intravascular haemolysis?

Answer 26

Haptoglobin

If low = intravascular as haptoglobin binds free haemoglobin in the blood

Question 27

What are the 2 divisions of extravascular haemolysis?

Answer 27

Intrinsic

Extrinsic

Question 28

What are the main causes of intrinsic extravascular haemolysis?

Answer 28

Sickle cell

Hereditary spherocytosis

Question 29

What are the main causes of extrinsic extracellular haemolysis?

Answer 29

Infection
Warm autoantibodies
Lead poisoning