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Transient aplastic crisis as presentation of a previously unknown G6PD deficiency with iron overload

A 29-year-old male of Anglo-Saxon extraction presented with a 2-week history of feeling unwell in July 2007. On admission, investigations showed evidence of acute non-immune haemolytic anaemia with haemoglobin concentration of 61 g/l, reticulocyte count of 16 · 10/l (normal range: 22–80), bilirubin 103 lmol/l which was mainly unconjugated, lactate dehydrogenase (LDH) 3880 u/l (208–378) and haptoglobin <0Æ06 g/l (0Æ36–1Æ95). Viral screen showed acute human parvovirus (HPV) B19 infection (presence of HPV B19 IgM and DNA). A diagnosis of transient red cell aplasia due to HPV B19 infection was confirmed on bone marrow examination. The images show a large proerythroblast (left) and a macrophage that has ingested two neutrophils (right). His past medical history was unremarkable with no history of anaemia or blood transfusion. After initial supportive management he made a full recovery within a few days. He was subsequently diagnosed with glucose-6-phosphate dehydrogenase (G6PD) deficiency [red cell enzyme assay <0Æ1 u/g (4Æ6–13Æ5)]. There was no family history of anaemia and no evidence of G6PD deficiency in parents or siblings (brother and sister). A negative screen for the common Mediterranean and African G6PD mutations together with the negative family history, suggested that the mutation might be novel. At the time of HPV B19 infection his serum ferritin was 58 260 lg/l and in April 2008 it remained elevated at 1021 lg/l with serum iron of 6Æ45 lmol/l, TIBC 9Æ67 lmol/l and iron saturation 67%. Presence of iron overload prompted extensive sequence analysis of the iron regulatory genes (HFE, HAMP, HFE2, SLC40A1 and TFR2, including promoter region and the exon-intron junction), which only showed heterozygosity for HFE H63D. R2 magnetic resonance imaging (R2MRI) (Ferriscan ; Resonance Health, Claremont, Perth, Australia) in September 2008 showed a fourfold increase in liver iron concentration (LIC). After venesection of 10 units of 500 ml blood over a 12-month period, his LIC (as measured by R2MRI) fell, from 9Æ9 to 3Æ9 mg/g dry tissue with serum ferritin of 294 lg/l. During the venesection programme his haemoglobin concentration remained between 120 and 130 g/l, with evidence of continuing haemolysis (reticulocyte count 308 · 10/l, LDH 456 u/l and haptoglobin <0Æ1 g/l). G6PD deficiency is an X-linked disorder that is very rarely seen in Northern Europeans. In this case, the mutation appears to be spontaneous. Conversely, hereditary haemochromatosis (HH), an autosomal recessive condition, is relatively common in this population. Two mutations were initially described within the haemochromatosis gene (HFE), namely p.Cys282Tyr (C282Y) and p.His63Asp (H63D) mutations. Homozygosity for HFE C282Y is the most frequent genotype associated with HH, while the contribution of the HFE H63D mutation is still controversial. In the present case, we suggest that presence of HFE H63D mutation together with the underlying haemolysis increases iron absorption leading to the iron overload.