Sickle Cell Disease

Question 1

What is SCD?

Answer 1

Sickle cell anaemia (sickle cell disease) is caused by an autosomal-recessive single gene defect in the beta chain of haemoglobin (HbA), which results in production of sickle cell haemoglobin (HbS).

Question 2

What are the Risk Factors of SCD?

Answer 2

Genetics (autosomal recessive)

Question 3

What are the signs and symptoms of SCD?

Answer 3

> FHx
> Persistent skeletal pain
> dactylitis
> high temp
> pneumonia like syndrome
> Visual floaters
> Tachypnoea
> Failure to thrive
> Jaundice
> Tachycardia
> Lethargy

Question 4

What is the epidemiology of SCD?

Answer 4

In England, sickle cell disease affects more than 1 in 2000 live births.

Question 5

What investigations should you do for SCD?

Answer 5

> DNA-based assays (HbS presence)
haemoglobin isoelectric focusing (Hb IEF) (HbF/S presence)
cellulose acetate electrophoresis (HbS presence)
high-performance liquid chromatography (HPLC) (HbF/S)
haemoglobin solubility testing (HbS)
peripheral blood smear (nucleated RBC, sickle, Howell Jolly Bodies)
FBC and reticulocyte count (anaemia)
Iron studies (serum iron, transferrin, ferritin levels, and serum iron binding capacity)

Question 6

What is the management of sickle cell disease?

Answer 6

> Analgesia
> Antihistamine (dipenhydramine)
> Supportive care/ correction of cause
> Hydration
> Antibiotics
> Blood transfusion
> Oxygen

Question 7

What are the complications of sickle cell disease?

Answer 7

> Anaemia
> Liver complications and cholelithiasis
> Avascular necrosis of hip or shoulder
> Dactylitis
> Leg ulcers
> Cardiovascular 
> Priapism

Question 8

What is the prognosis of sickle cell disease?

Answer 8

Chronic organ damage secondary to sickle cell disease results in many medical complications, although some prophylactic treatments can reduce the incidence of these. Without bone marrow transplantation (the only potentially curative treatment), median age at death is 42 years for men and 48 years for women in patients with sickle cell anaemia (SS), and 60 years for men and 68 years for women with haemoglobin SC disease.