There is a strong case for pan-European collaboration on haemoglobin disorders to share policies, standards and the instruments required to support them. These include methods for needs assessment, service standards, education and information strategies and materials, and methods for evaluating service delivery.

OBJECTIVES: To assess the impact of a screening programme for haemoglobinopathies which was organised from 1978 to 1985 in high secondary schools of the Marseille region. METHODS: Several variables that reflected the influence of this preventive programme on the uptake of prenatal diagnosis were investigated. To evaluate the partner’s uptake for the testing, a letter was sent, together with an anonymous questionnaire, to all the haemoglobin carriers detected in this programme. To evaluate the number of prenatal diagnoses, the charts of all couples from the Marseille area who underwent genetic counselling for haemoglobinopathies were compiled. The number of affected children born between 1980 to 2000 was recorded, and the cases in which one of the parents had previously been screened at school were noted. RESULTS: Half of the carriers replied to the questionnaire: 86% knew that they have to test their partner. Six carrier couples were identified, four asked for genetic counselling and requested eight prenatal diagnoses, two couples did not request genetic couselling and have had two affected children. CONCLUSIONS: Despite the time lapse between screening, informing, and pregnancy (mean 15 years), the information was well conserved and resulted in testing of the partner. The screening programme was effective in motivating requests for prenatal diagnosis.

No abstract

To study the respective roles of mean serum ferritin level and the mean desferrioxamine (DFX) dose on progression of HIV-1 infection, data from 49 HIV-seropositive thalassemic patients were analyzed using a Cox proportional hazards model including known confounding variables. Nine years after seroconversion, 10% of those who had been prescribed >40 mg/kg of DFX daily had entered stage IV versus 39% of those who had been prescribed a lower dose. Patients with ferritin level >1935 g/L entered stage IV more rapidly than those with a lower level (31% versus 16%). In multivariate analysis, the ferritin level was found to be an independent predictor of progression of HIV disease, whereas the mean daily dose of DFX was not. Similar results were obtained when death was the endpoint. Our results support a hypothesis that was recently expressed, that iron overload could be associated with a more rapid progression of HIV-1 infection.