Case Studies

Case 13: A 12-year-old boy with limb pain

A 12-year-old boy presents in the accident and emergency department with severe pain in both legs, pain in the arms, and abdominal pain. He has had a high fever over the previous 2 days. His mother reports that he has had several such episodes in the past and his older sister is similarly affected.
On examination he is obviously in severe pain. He is of Afro-Caribbean ethnicity. He is pale and clinically jaundiced. The liver and spleen are not palpable.
Investigations show:
Hb 77 g/L
WBC 16 × 10⁹/L
Platelets 540 × 10⁹/L
His blood film is illustrated.

• (a) What does the blood film show?

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  Correct answer: The blood film shows abnormally shaped red cells (sickle cells).

• (b) What is the likely diagnosis?

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  Correct answer: The likely diagnosis is a haemoglobinopathy, likely sickle cell disease (Hb SS).

• (c) How would you confirm the diagnosis?

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  Correct answer: The diagnosis is confirmed by undertaking high performance liquid chromatography (see Chapter 17). DNA diagnosis can also be undertaken.

• (d) What complications can occur?

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  Correct answer: Complications include vaso-occlusive sickle cell crisis, chest syndrome, leg ulceration, hyposplenism, increased susceptibility to infection (see Chapter 17).

• (e) How would you treat the child?

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  Correct answer: The main elements of treatment are administration of pain relief, intravenous fluids, oxygen therapy and antibiotics in the light of the recent history of fever. Folic acid is given long term and if hyposplenic, pneumococcal vaccine and long term daily oral penicillin prophylaxis of infection are given.

• (f) 6 How is this condition inherited?

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  Correct answer: The condition is inherited as an autosomal recessive trait.