BOF 72

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BOF: 72

An 18 year old male presents with a history of yellow discolouration of his eyes, passage of dark urine and fever of several days duration. He says that he has had several such episodes since childhood. One of his brothers has had a similar problem and has undergone splenectomy.

On examination he is jaundiced, febrile and there is cervical lymphadenopathy, his throat looks inflamed and his spleen is palpable.

Investigations

Hb 8.9 g/dL

WBC 6.5 x10⁹ /L

Platelets 160 x10⁹ /L

Bilirubin 60 µmol/L

Urine urobilinogen ++++

In this patient which of the following tests is likely to lead to a diagnosis?

a)      Gilbert’s genotyping

b)      Monospot test

c)      G6PD assay

d)     Sickling test

e)      Osmotic fragility

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