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Endgames Case Review

A young man with severe acute haemolytic anaemia

BMJ 2017; 359 doi: (Published 19 October 2017) Cite this as: BMJ 2017;359:j4263
  1. Xi Chen, experimentalist doctoral year 11,
  2. Yongshu He, professor2,
  3. Yinglei Miao, chief physician3,
  4. Zhaoqing Yang, professor1,
  5. Liwang Cui, professor1 4
  1. 1Department of pathogen biology and immunology, Kunming Medical University, Kunming, Yunnan, China
  2. 2Department of cell biology and medical genetics, Kunming Medical University, Kunming, Yunnan, China
  3. 3Department of gastroenterology, First Affiliated Hospital of Kunming Medical University, Kunming, Yunnan, China
  4. 4Department of entomology, Pennsylvania State University, Pennsylvania, USA

Correspondence to Z Yang

A 19 year old man of Kachin ethnicity presented with fever (39.5°C) and was diagnosed with vivax malaria by microscopy. He was prescribed chloroquine and primaquine and his fever resolved. After 24 hours he experienced two days of passing dark urine, followed by an episode of syncope, and was admitted to hospital. On admission, he weighed 59 kg and was afebrile (36.2°C), his heart rate was 120 beats/min, blood pressure 70/40 mm Hg, and respiratory rate 36 breaths/min. He was moderately jaundiced and his conjunctivae and nail beds were pale. The spleen was palpable at 1.5 cm below the left costal margin. His blood smear was negative for malaria parasites and a beam test was negative.

Tests showed reduced haemoglobin (34 g/L; reference range 110-160), hematocrit (9.2%; 35-50), and red blood cell count (1.1×1012/L; 3.5-5.5×1012). The patient’s urine contained bilirubin and haemoglobin but no red blood cells. Total bilirubin was 71.9 µmol/L (reference range 3.4-17.1), unconjugated bilirubin 52.1 µmol/L (1.7-10.2); urea nitrogen 18.45 mmol/L (1.07-7.14), and creatinine 235.4 µmol/L (44-132). A fluorescent spot test found G6PD deficiency, enabling a diagnosis of acute haemolytic anaemia. Genotyping by a SNaPshot assay1 of G6PD in 11 common G6PD mutations that occur in south-east Asia showed that he carried the G6PD Mahidol variant (487G >A) (fig 1). …

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