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).

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.

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.

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.

A comparison of sickle cell syndromes in northern Greece.

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.

Comparison of homozygous sickle cell disease in northern Greece and Jamaica.

The clinical and haematological features of homozygous sickle cell (SS) disease were compared in 30 Greek and 310 Jamacian patients. Deletional alpha-thalassaemia, which modifies SS disease, is rare among Greek patients, so only Jamacian patients with four alpha-globin genes were included in the control group. Greek patients had higher total haemoglobin concentration and red cell counts, and lower mean cell haemoglobin concentration (MCHC) and reticulocyte counts.