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Endgames Case Review

A woman with recurrent anaemia and jaundice

BMJ 2019; 364 doi: https://doi.org/10.1136/bmj.k5168 (Published 27 February 2019) Cite this as: BMJ 2019;364:k5168
  1. Muhajir Mohamed, consultant haematologist, associate professor of medicine12,
  2. Wan Danial Noor, trainee resident1
  1. 1Department of Medicine, Launceston General Hospital, Launceston, Tasmania, Australia
  2. 2Launceston Clinical School, University of Tasmania, Tasmania, Australia;
  1. Correspondence to M Mohamed muhajirbm{at}yahoo.com

A 41 year old white woman presented to the emergency department. She described fever, cough, and exercise intolerance, yellowish discolouration of her eyes, and pain in the left upper quadrant that had been ongoing for three days. She had experienced three similar episodes in the past five years. Each episode resolved completely after treatment with antibiotics prescribed by her general practitioner. She had no other notable medical conditions or family history.

She appeared pale and had scleral icterus. Her spleen was enlarged and palpable below the left costal margin, firm in consistency, and mildly tender on palpation. Results of laboratory investigations are shown in table 1.

View this table:
Table 1

Results of laboratory investigations

Examination of peripheral blood film revealed abnormalities in red blood cell morphology (fig 1).

Fig 1

Blood film

Ultrasonography of the abdomen confirmed splenomegaly with spleen size of 16 cm.

Questions

  1. What is the most likely diagnosis?

  2. How can you diagnose this condition?

  3. How is this condition managed?

Answers

1. What is the likely diagnosis?

Hereditary spherocytosis presenting with haemolytic crisis.

There is marked spherocytosis and polychromasia on peripheral blood smear (fig 2). The negative direct antiglobulin test and splenomegaly are suggestive of hereditary spherocytosis. In patients with hereditary spherocytosis, development of anaemic symptoms and jaundice in association with a rapid drop in haemoglobin …

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