Sickle Cell Anaemia

Question 1

What is Sickle Cell Anaemia (SCA)

Answer 1

A point mutation in the B chain of haemoglobin causing Sickle cell Haemoglobin (HbS). Carriers show no symptoms and homozygous show symptoms. Sickle cell trait has a malarial advantage

Question 2

What is the genetic inheritance pattern of SCA?

What chromosome

Answer 2

Autosomal recessive

11

Question 3

What are the acute symptoms and signs of SCA?

Answer 3

Acute Symptoms - Pain from ischamia/occlusion

Fatigue from anaemia

Jaundice

Question 4

What are the chronic symptoms and signs of SCA?

SIX

Answer 4

Symptoms - Infection and ulcers from ischamia and infarction

Signs -Shortened limbs from epiphyseal infarction

Dactylitis on hands and feet from 4-6 months

Hyposplenism

Maxillary prominence

AVN

Question 5

What is this

Answer 5

Dactylitis - SCA complication

Question 6

What is this?

Answer 6

Frontal bossing from SCA

Question 7

What happens to the spleen in SCA?

Answer 7

It is the most affected organ and is commonly enlarged in early life and then gets smaller and has less effect often leading to splenectomy

Question 8

What are the 4 SCA Crisis?

Answer 8

**Vaso occlusive **

Sequestration

Aplastic

Haemolytic

Question 9

What are the investigations for SCA?

Answer 9

Blood film - Sickle Cells, High reticulocytes to compensate

FBC - ?Hyposplenism and low haemoglobin

Question 10

What are the symptoms and what is the mangement of Vaso occlusive crisis?

Answer 10

Symptoms - This occurs post infection, hypoxia, dehydration. Sickle cells block vessels causing pain.

Management -ANALGESIA and fluid

Question 11

What are the symptoms and what is the mangement of seqeuestrian crisis?

Answer 11

Symptoms - Blood pooling in limbs and hypovoleamia - eg in the spleen causing pain -

Management - support, fluid and ?blood transfusion

Question 12

What are the symptoms and what is the mangement of Aplastic crisis?

Answer 12

**Symptoms - **Worsening of baseline anaemia causing fatigue, pallor and tachycardia

Management - blood transfusion

Question 13

What are the signs and what is the management of haemolytic crisis?

Answer 13

Symptoms - Accelerated drop in haemoglobin due to increased haemolysis

Management - Blood transfusion

Question 14

What is this?

Answer 14

Reticulocyte - immature RBC

Question 15

What is the acute management of SCA?

Answer 15

O2, analgesia, Abx, fluid

Question 16

What is the chronic management of SCA?

Answer 16

• Counselling,
• folic acid for RBC production,
• vaccinations
• prophylaxis for hyposplenism

Question 17

What happens in a hemolytic crisis?

Answer 17

RBCs break down at an increased rate

Increased hemolysis

Question 18

What happens in an aplastic crisis?

Answer 18

Drop in baseline anaemia

Normally parvovirus19 destroying them