An electronic infrastructure for research and treatment of the thalassemias and other hemoglobinopathies: the Euro-mediterranean ITHANET project.

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.

Prognostic significance of right ventricular diastolic function in thalassaemia major.

While left ventricular (LV) restrictive filling pattern is an ominous echocardiographic finding in thalassaemia major (TM), the prognostic significance of right ventricular (RV) diastolic function in patients with TM has not been thoroughly investigated. We studied 45 TM asymptomatic transfusion-dependent patients with normal LV systolic function by Doppler echocardiography. The 15-year cumulative survival rate was 34% in patients with RV restrictive filling pattern (RFP) and 82% in patients with RV non-RFP (log-rank = 10.41, p = 0.0013). Doppler estimation of RV filling pattern is very important in evaluating the prognosis of TM patients and should be performed routinely and using a standardised followup protocol.

Survival in thalassaemia major patients.

BACKGROUND: The present study evaluated the prognostic significance of Doppler-demonstrated left ventricular (LV) restrictive filling pattern (RFP) in patients with thalassaemia major (TM), which carries an adverse cardiovascular prognosis. METHODS AND RESULTS: The 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 and those with LV non-RFP. The incidence of cardiac death in both groups was analyzed. The impact of chelation therapy on the ventricular filling pattern and survival was also examined. Nineteen patients (42.2%) had LVRFP and 26 (57.8%) had LV non-RFP. During follow-up 11 patients died from cardiac causes; 8 of them (72.8%) initially had LVRFP and 3 (27.2%) had LV non-RFP. LVRFP was significantly associated with mortality (p=0.018). Poor compliance with chelation therapy was significantly associated with LVRFP (p=0.007) and cardiac mortality (p=0.003). CONCLUSIONS: LVRFP is an important predictor of cardiac mortality in patients with TM. Poor compliance with chelation therapy was significantly associated with both a RFP (p=0.007) and cardiac mortality (p=0.003).

Leg ulcer due to Pseudomanas luteola in a patient with sickle cell disease.

Pseudomonas luteola is rarely implicated in clinical infections, usually in association with indwelling catheters or prostheses. This report describes the first case of deteriorated leg ulcer caused by a multiply antibiotic resistant P. luteola strain in a patient with homozygous sickle cell disease.