A young man with severe acute haemolytic anaemia
Year: 2017
Type: article
Abstract: Correspondence to Z Yang [email protected]
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). …
Source: BMJ
DOI: 10.1136/bmj.j4263
Authors: Xi Chen, Yongshu He, Yinglei Miao, Zhaoqing Yang, Liwang Cui
Language: English
Subfield: Genetics
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W2765898139