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Haematological and clinical characteristics have been examined in 30 patients with homozygous sickle cell (SS) disease, 28 with sickle cell-beta zero thalassaemia, and 21 with sickle cell-beta+ thalassaemia. The latter could be divided into three groups on their molecular basis and HbA levels, four subjects with an IVS-2 nt 745 mutation having 3-6% HbA (designated S beta+ thalassaemia type I), 14 subjects with an IVS-1 nt 110 mutation having 8-15% HbA (designated S beta+ thalassaemia type II), and three subjects with an IVS-1 nt 6 mutation having 20-25% HbA (designated S beta+ thalassaemia type III). Comparisons were conducted between SS disease, S beta zero thalassaemia, and S beta+ thalassaemia type II. Compared to SS disease, both thalassaemia syndromes had higher HbA2 levels and red cell counts and lower mean cell haemoglobin content (MCHC), mean cell volume (MCV) and MCH, and S beta zero thalassaemia had higher HbF and reticulocyte counts. Compared to S beta zero thalassaemia, S beta+ thalassaemia had a higher haemoglobin and MCHC. Clinically, persistence of splenomegaly was more common in S beta zero and S beta+ thalassaemia type II compared to SS disease. Few significant differences occurred between SS disease, S beta zero and S beta+ thalassaemia type II in Northern Greece suggesting that the 8-15% HbA in the latter condition was insufficient to modify the clinical course.

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Hemoglobin (Hb) disorders are common, potentially lethal monogenic diseases, posing a global health challenge. With worldwide migration and intermixing of carriers, demanding flexible health planning and patient care, hemoglobinopathies may serve as a paradigm for the use of electronic infrastructure tools in the collection of data, the dissemination of knowledge, the harmonization of treatment, and the coordination of research and preventive programs. ITHANET, a network covering thalassemias and other hemoglobinopathies, comprises 26 organizations from 16 countries, including non-European countries of origin for these diseases (Egypt, Israel, Lebanon, Tunisia and Turkey). Using electronic infrastructure tools, ITHANET aims to strengthen cross-border communication and data transfer, cooperative research and treatment of thalassemia, and to improve support and information of those affected by hemoglobinopathies. Moreover, the consortium has established the ITHANET Portal, a novel web-based instrument for the dissemination of information on hemoglobinopathies to researchers, clinicians and patients. The ITHANET Portal is a growing public resource, providing forums for discussion and research coordination, and giving access to courses and databases organized by ITHANET partners. Already a popular repository for diagnostic protocols and news related to hemoglobinopathies, the ITHANET Portal also provides a searchable, extendable database of thalassemia mutations and associated background information. The experience of ITHANET is exemplary for a consortium bringing together disparate organizations from heterogeneous partner countries to face a common health challenge. The ITHANET Portal as a web-based tool born out of this experience amends some of the problems encountered and facilitates education and international exchange of data and expertise for hemoglobinopathies.

ongestive heart failure is the main cause of death in transfusion-dependent homozygous -thalassaemia (thalassaemia major (TM)) patients. When symptoms of heart failure appear, death usually occurs within 1 year. 1,2 Although cardiac death is the most common cause of death in patients with TM, early markers of cardiac function with prognostic impact on survival have not yet been adequately defined. Deposition of iron in the heart is the major determinant of survival in these patients. 3,4 Left ventricular (LV) restrictive filling pattern (RFP), as assessed by Doppler-echocardiography, is a well-recognized feature of TM patients with normal LV systolic function, 5 although debated by some authors. 6,7 LVRFP, as assessed by Doppler-echocardiography, is characterized by an increase of the peak early to peak late filling velocity ratio (>2) and/or shortened deceleration time of early filling (<150 ms) because of impaired ventricular compliance. 8,9 Doppler-demonstrated LVRFP is an ominous sign in a variety of cardiac diseases with concomitant systolic heart failure, 10-13 but the clinical significance of restrictive physiology in TM patients has not yet been well established.The purpose of this longitudinal study was to investigate Circulation Journal Vol.70, August 2006the impact of the Doppler-demonstrated LV filling pattern and also the impact of compliance with chelation therapy on survival in a cohort of asymptomatic TM adult patients with normal LV systolic function throughout a 15-year observation period. Methods Patients and Study ProtocolAll patients gave written informed consent and the protocol of this study was reviewed and approved by the institutional review board. Sixty-five consecutive TM patients, who were followed-up in the Thalassaemia Unit, were considered candidates for the analysis. All patients initially underwent clinical evaluation, chest X-ray, 12-lead ECG and Doppler-echocardiography from May 1989 to August 1989, in order to obtain baseline data, and then they were examined periodically by clinical examination and Dopplerechocardiography up to the end of the data collection (May 2004). The endpoint of the study was death from cardiovascular causes. Patients' inclusion criteria were: (1) age ≥14 years at the initial examination, (2) normal LV end-diastolic diameter (=55 mm) and normal LV systolic function (fractional shortening =30%), as assessed by echocardiography and (3) absence of any symptom of cardiac and/or pulmonary pathology.Among the 65 patients initially evaluated, 20 were excluded for the following reasons: 11 were <14 years of age; 4 had LV fractional shortening <30%; 5 died from non-car- Methods and ResultsThe study group comprised 45 asymptomatic transfusion-dependent patients with TM and normal LV systolic function. All patients were chelated with desferrioxamine. They were regularly evaluated by clinical and Doppler-echocardiographic studies throughout the 15-year follow-up period. The patients were categorized into 2 groups according to baseline data: those with LVRFP an...