Neonatal screening for sickle cell disease in France: evaluation of the selective process.

Aims: The French national programme for neonatal screening of sickle cell disease is applied to newborns 'at risk', defined as those born to parents originating from sub-Saharan Africa, the Mediterranean area, the Arabic peninsula, the French overseas islands and the Indian subcontinent. The selection is performed by the nurse in charge of blood sampling by interviewing the mother about the family's geographical origins. The mean rate of testing in France is 25%, ranging from 2% to 50% depending on the region.

Epidemiology of haemoglobin disorders in Europe: an overview.

Objective: As a result of global population movements, haemoglobin disorders (thalassaemias and sickle cell disorders) are increasingly common in the formerly non-indigenous countries of Northern and Western Europe and in the indigenous countries of Southern Europe. This article presents an overview of the changing picture and a method for assessing service needs.

Method: Data on country of birth or ethnic origin of residents are adjusted to obtain the estimated proportions of residents and births in non-indigenous groups at risk for haemoglobin disorders in European countries.

Ethical aspects of neonatal screening for sickle cell disease in Western European countries.

Unlabelled: Sickle cell disease raises some important ethical questions regarding neonatal screening in Western European countries such as France, England or Belgium, which have already introduced either universal or selective screening. Such screening is aimed at benefiting children affected with major sickle cell syndrome. It also detects heterozygous babies and, in doing so, heterozygous parents.

[Good practices for the study of hemoglobin].

Hemoglobinopathies have become a significant national health problem in France. The biologists have a pivotal role in the genetic diagnoses. Although sickle cell disease (SCD) is the most frequent abnormality found: not less than 200 new cases are observed each year at birth, many other globin gene variations are found in the various ethnic groups.

[Beta-thalassemia in metropolitan France].

Objectives: Update the data collected in 1990 in order to assess the distribution and management of thalassemic patients presently living in Metropolitan France.

Methods: A survey conducted in France in the clinical and biological departments of haematology permitted collection of epidemiological, clinical and biological data in a population of thalassemic patients followed-up in metropolitan France.

Results: Analysis of the replies revealed a total of 362 thalassemia with 249 beta-thalassemia major, 81 beta-thalassemia intermedia and 32 E-beta thalassemia.