Summary The risk of developing hepatocellular carcinoma (HCC) in patients with thalassaemia is increased by transfusion‐transmitted infections and haemosiderosis. All Italian Thalassaemia Centres use an ad hoc form to report all diagnoses of HCC to the Italian Registry. Since our last report, in 2002, up to December 2012, 62 new cases were identified, 52% of whom were affected by thalassaemia major (TM) and 45% by thalassaemia intermedia (TI). Two had sickle‐thalassaemia (ST). The incidence of the tumour is increasing, possibly because of the longer survival of patients and consequent longer exposure to the noxious effects of the hepatotropic viruses and iron. Three patients were hepatitis B surface antigen‐positive, 36 patients showed evidence of past infection with hepatitis B virus (HBV). Fifty‐four patients had antibodies against hepatitis C virus (HCV), 43 of whom were HCV RNA positive. Only 4 had no evidence of exposure either to HCV or HBV. The mean liver iron concentration was 8 mg/g dry weight. Therapy included chemoembolization, thermoablation with radiofrequency and surgical excision. Three patients underwent liver transplant, 21 received palliative therapy. As of December 2012, 41 patients had died. The average survival time from HCC detection to death was 11·5 months (1·4–107·2 months). Ultrasonography is recommended every 6 months to enable early diagnosis of HCC, which is crucial to decrease mortality.

Venous thromboembolic events, such as pulmonary embolism, deep venous thrombosis, and portal vein thrombosis, have been observed in adult thalassemia patients, mainly in β‐thalassemia intermedia. The clinical findings are consistent with the observation of several alterations that indicate a state of activation of the hemostatic mechanisms in thalassemias. These alterations have usually been related to high platelet counts due to splenectomy and/or liver dysfunction. In a retrospective study of a large cohort of adults with thalassemia, we found a larger prevalence of venous thromboembolic events in transfusion‐independent patients with thalassemia intermedia (29%) than in regularly transfused patients with thalassemia major (2%); moreover, the higher prevalence occurred particularly in splenectomized thalassemia intermedia patients. More recently, a multicenter study involving 56 tertiary referral centers in 7 countries was planned to assess the magnitude of thrombotic risk in thalassemia patients. The total number of patients who had thrombotic events was 146 (1.65%) out of 8860, with a prevalence of 0.9% in thalassemia major and 4% in thalassemia intermedia. The highest prevalence was confirmed in splenectomized patients. The observation that thrombotic events are more frequent in β‐thalassemia patients who are not receiving regular transfusions (thalassemia intermedia or thalassemia major patients in less developed countries with limited transfusion resources) or in thalassemic patients who have undergone splenectomy strongly supports the procoagulant activity of circulating damaged red blood cells.

Beta-thalassemia major (TM), a chronic, genetically determined hematological disorder, has received little investigation on the psychological aspects of the disease and the psychosocial adjustment of patients with this anemia. Unfortunately, the few psychological studies referred on the literature are generally limited to the investigation of the only children with thalassemia major. The study was planned to assess the self-image, the quality of life, the way of coping and to investigate the existence of psychiatric disorders in young adults with thalassemia major. 147 patients were included in the study. Patients were psychologically investigated by three interviews: the first connects some psychosocial information, the second submits patients to the psychological test and the third gives back the results obtained by the test. The psychological test consists of the ways of coping questionnaire (WCQ), the Machover's test, The short form 36-health survey questionnaire (SF-36) and symptom-check-list-90 revised (SCL-90-R) were performed on all patients. Vis-à-vis identity and self-image were found to be low with feeling of insufficiency and being exposed to vulnerability in 80% of patients with TM. Evaluation of mean values of symptomatological dimensions in these patients showed a personality characterized by somatization (SOM), depression (DEP) and obsessive-compulsive traits. The principal coping strategy used is escape-avoidance. No statistically significant differences occurred to relation to gender, age, level education and SCL-90-R and WCQ scores. Estimation of the SF-36 scores showed that the emotional role and social function values were considerably lower than in all of the domain. As a result, the study showed that most of the patients with TM had severe psychosocial problems. Relying on these data, it was concluded that medical therapy of these patients should be supported with psychological aid and psychiatric treatment.

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Transient elastography (TE) is a valuable noninvasive technique of measuring liver stiffness and a reliable tool for predicting hepatic fibrosis in patients with chronic liver disease. The role of TE in patients with β‐thalassemia has not been extensively investigated. The present study aimed to evaluate the role of TE in the assessment of hepatic fibrosis in 115 adult patients with β‐thalassemia major (TM) (#59) or intermedia (TI) (#56). TE was performed according to current practice. Histologic data were obtained in 14 cases. Liver iron concentration was assessed by atomic absorption spectrometry and T2* magnetic resonance. In patients with TM, the proportion of anti‐HCV positive viremic patients, median serum ferritin levels, and TE values were significantly higher than in TI. In the group of 14 patients who underwent liver biopsy, a significant positive correlation was observed between liver stiffness and fibrosis stage (r = 0.73, P = 0.003). Severe fibrosis is diagnosed with a sensitivity of 60% and a specificity of 89%, whereas cirrhosis is detected with a sensitivity of 100% and a specificity of 92%. At multivariate analysis, the variables independently associated with TE were ALT, GGT, and bilirubin levels in both groups and, in patients with TM, HCV RNA positivity. In β‐thalassemia patients, TE is a reliable tool for assessing liver fibrosis even if the influence of iron overload has to be clarified. Am. J. Hematol. 85:564–568, 2010. © 2010 Wiley‐Liss, Inc.