Inherited Haemolytic Anaemias

Question 1

Key inherited haemolytic anaemias due to membrane defects

Answer 1

Hereditary spherocytosis
Hereditary elliptocytosis

Question 2

Inheritance pattern of hereditary spherocytosis

Answer 2

Autosomal dominant

Question 3

Deficiency that causes hereditary spherocytosis

Answer 3

Spectrin
Ankyrin

Question 4

Patients with hereditary spherocytosis are susceptible to which virus?

Answer 4

Parvovirus B19

Question 5

Dx of hereditary spherocytosis

Answer 5

Bedside - splenomegaly
Blood film - spherocytes
Increased osmotic fragility
DAT -ve
Flow cytometry EMA binding test

Question 6

Mx of hereditary spherocytosis

Answer 6

Folic acid
splenectomy

Question 7

inheritance pattern of hereditary elliptocytosis

Answer 7

Autosomal dominant

Question 8

What deficiency causes hereditary elliptocytosis

Answer 8

Spectrin

Question 9

What is hereditary pyropoikilocytosis

Answer 9

Severe autosomal recessive haemolytic anaemia where RBCs are more susceptible to heat and subsequently break down

Question 10

Most common RBC enzyme defect

Answer 10

G6PD deficiency

Question 11

Inheritance pattern of G6PD deficiency

Answer 11

X-linked recessive

Question 12

Features of G6PD deficiency

Answer 12

Attacks - rapid anaemia and jaundice, bite cells, Heinz bodies
Intravascular haemolysis - dark urine

Question 13

G6PD precipitants

Answer 13

Drugs
Fava beans
Acute stressors
Moth balls
Acute infection

Question 14

G6PD diagnosis

Answer 14

Enzyme assay 2-3 months after crisis

Question 15

G6PD treatment

Answer 15

Avoid precipitants
Transfuse if severe
Genetic screening

Question 16

Inheritance pattern of pyruvate kinase deficiency

Answer 16

Autosomal recessive

Question 17

Clinical features of pyruvate kinase deficiency

Answer 17

Jaundice
Splenomegaly
Haemolytic anaemia