31. Sickle Cell

Question 1

Discuss the pathophysiology of sickle cell

Answer 1

Single BP mutation: Glu for Val = hydrophobic AA residues on surface = try and hide = joins to another Hb = tetramer, masks valine = clustering – LONG POLYMER. Sickled cells = more prone to lyse

Question 2

What are the S+S of sickle cell in children?

Answer 2

Anaemia = pale and tired

Jaundice = skin, sclera

Sickle crisis = sudden pain can happen anywhere, but most often occurs in the chest, arms, and legs

Acute chest syndrome = chest pain, fever, pain, violent cough

Splenic sequestration (pooling) = enlarged spleen, LUQ pain

Question 3

What is a DDx for suspected sickle cell?

Answer 3

Valvular heart disease
Septic arthritis
Sepsis
Upper respiratory tract infection
Aortic arch syndrome
Familial exudative vitreoretinopathy
Lupus erythematosus
Macroglobulinemia
Polycythemia vera