Case Studies

Case 15: A 2-year-old child with failure to thrive

A 2-year-old girl, born of Greek parents, is referred for investigation. Her parents are concerned that she is generally unwell. She is small for her age, is tired, sleeps excessively, and her GP is concerned that she is not meeting her developmental milestones.
On examination she is noted to have a prominent forehead, a widened nose and is pale. The spleen is palpable.
Investigations show:
Hb 45 g/L
MCV 62 fl
WBC 23 × 10⁹/L
Platelets 456× 10⁹/L.
Blood film – as illustrated.

• (a) What does the blood film show?

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  Correct answer: The blood film shows abnormal red cells which are microcytic, hypochromic, and there are ‘target’ cells. There are numerous nucleated red cells.

• (b) What is the likely diagnosis?

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  Correct answer: The likely diagnosis is β-thalassaemia major (see Chapter 16).

• (c) How is the diagnosis confirmed?

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  Correct answer: The diagnosis is confirmed by high performance liquid chromatography and DNA studies.

• (d) What complications can occur?

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  Correct answer: The complications of β-thalassaemia major include extramedullary haemopoiesis which can cause skeletal changes and hepatosplenomegaly, osteoporosis/osteomalacia, increased iron absorption from the diet. Treatment with red cell transfusion leads to iron overload which in turn causes liver disease, cardiac dysfunction, endocrine abnormalities and skin pigmentation.

• (e) What is the treatment?

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  Correct answer: The mainstay of treatment is regular red cell transfusion with iron chelation therapy. Allogeneic stem cell transplantation is curative in selected cases.