Thalassemi i Norge : Klinisk bilde, behandling og heterogenitet belyst ved en familiestudie

Background: The thalassaemias are a group of inherited haemoglobin disorders frequently found in tropical and subtropical areas, evolutionary selected for due to carriers’ resistance to malaria. It is regarded as an autosomal recessive disorder. In Norway it is still a seldom disease although the incidence is increasing as a result of immigration from endemic countries. Many Norwegian doctors lack the experience and knowledge required to screen, diagnose and treat these patients. Although it is still a small group in the Norwegian population proper treatment and follow up is essential for these patients. This paper examines the prevalence of children with thalassaemia in Norway, does a qualitative assessment from two patient’s point of view and asks whether this group receive adequate treatment and follow up. Methods: Contact with Norway’s paediatric centres to assess prevalence. An interview with a family with 2 affected children with regard to quality of life and treatment was performed. Comparisons of national with international guidelines and a review of up to date evidence on treatment assess the standard of treatment in Norway. Results/discussion: Thalassaemia is a chronic disease with huge implications for the affected and their families, even with optimal treatment. The prevalence in Norway has and is expected to gradually increase due to increased immigration. Norwegian guidelines and practice meets the standards of comparable countries, although the question of screening needs to be assessed. Information on how to identify carriers and refer to genetic counselling must be made more accessible to doctors