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A liver mass in an iron‐overloaded thalassaemia intermedia patient

A 54-year-old man with beta-thalassaemia intermedia was referred with right upper quadrant pain that has been persistent for 2 weeks. No other symptoms were described and his physical examination was unremarkable. He was able to sustain a haemoglobin concentration of c. 70 g/l without the need for blood transfusions. However, he had still developed iron overload necessitating chelation therapy, with therapy being tailored to keep his serum ferritin at c. 1000 lg/l. Liver function tests were within normal limits and hepatitis B and C testing were negative by antigen detection and RNA polymerase chain reaction. A computed tomography (CT) scan showed a hypo-attenuating lesion in the right hepatic lobe (left). A CT-guided liver biopsy was carried out and showed the mass to be hepatocellular carcinoma (right). The cells stained positive with HepPar-1 and CK8/18. CD34 highlighted the presence of an endothelial network separating the tumour cells into thick plates and sheets. CK7, CK20 and a-fetoprotein were negative. Despite transfusion-independence, thalassaemia intermedia patients suffer iron overload because of increased intestinal iron absorption, increased release of recycled iron from the reticuloendothelial system, and preferential hepatocyte iron loading. In contrast to patients with transfusional siderosis, the shunting of iron from the reticuloendothelial system to the liver in transfusion-independent patients leads to relatively low serum ferritin levels despite considerable hepatic iron loading. In fact, despite serum ferritin levels of c. 1000 lg/l in this patient (recommended level in polytransfused beta-thalassaemia patients <1000 lg/l), hepatic iron concentration evaluated by magnetic resonance imaging (MRI) was 12 3 mg Fe/g dry weight. Hence, transfusion-independent patients with betathalassaemia intermedia can still reach substantially elevated hepatic iron concentrations that should be ideally monitored by means of MRI rather than serum ferritin, and closely managed before serious complications including hepatic carcinoma manifest.