Congenital Haematological Conditions

Question 1

What is Hereditary Spherocytosis?

Answer 1

This a cell membrane disorder causing proton abnormalities and spherical red cells leading to their early apoptosis

Question 2

What 5 structural proteins are affected in HS?

Answer 2

Ankyrin
Alpha spectrin
Beta spectrin 
Band 3
Protein 4.2

Question 3

What genetic inheritance does HS show?

Answer 3

Autosomal dominance

Question 4

What are the features of HS?

Answer 4

Anaemia
Neonatal jaundice
Splenomegaly
Pigment gallstones

Question 5

What does the blood film show in HS?

Answer 5

Spherocytes

Question 6

What is the management of HS?

Answer 6

Transfusion and splenectomy

Question 7

What is G6PD deficiency?

Answer 7

Body doesn’t have enough of the enzyme glucose-6-phosphate dehydrogenase so there is RBC metabolism disorder?

Question 8

What is G6PD the most common cause of?

Answer 8

Enzymopathy in ward

Question 9

What is G6PD genetic inheritance?

Answer 9

X-linked

Question 10

What are the clinical feats of G6PD

Answer 10

Neonatal jaundice 
Trigger facilitated jaundice and anaemia 
Intravascular haemolysis
Splenomegaly 
Pigment gallstones

Question 11

What are the triggers for G6PD clinical features?

Answer 11

Infection
Acute illness
Dugs ie anti-malarial

Question 12

What does the G6PD blood film show?

Answer 12

Blister and bite cells

Question 13

How are you treating G6PD?

Answer 13

Treat the haemolytic anaemia and avoid the triggers

Question 14

What is pyruvate Kinase deficiency?

Answer 14

This is a red cell metabolism disorder where those is decreased ATP and increased 2,3 DPG with rigid cells

Question 15

How does the child present with PKD?

Answer 15

Anaemia
Jaundice
Gallstones

Question 16

How to treat PKD?

Answer 16

Mild = nothing
Severe = Blood transfusion