Abstract Body

Background: The prevalence of hemoglobinopathies is increasing in The Netherlands due to migration, as in most North-European countries. The treatment options are limited and patients suffer from a severe chronic disease. If carriers were detected, couples at risk can make informed reproductive choices, such as termination of affected pregnancies or pre-implantation diagnosis.

Method: A mixed-method design was used to both evaluate the prevalence of hemoglobinopathies in the region of The Hague and explore the needs and wishes of patients, carriers and general practitioners. The quantitative part included patient and carrier registries from the hospital, laboratory and general practitioners. The qualitative part contained telephone interviews with ten of each general practitioners, patients and carriers. The interviews were audio-recorded, transcribed verbatim and analysed using content analysis to identify recurring themes.

Results: The highest prevalence of hemoglobinopathy coincided with immigrant neighborhoods in The Hague. This study revealed a gap between the estimated carrier prevalence and the registration of carriers. Three themes emerged illustrating the need for prevention of hemoglobinopathy in daily practice: (1) the need for more knowledge about hemoglobinopathy, (2) the need for indications when to refer for analyses and (3) insight into the organization and roles in hemoglobinopathy care. These themes reflect the need for more education for general practitioners to increase awareness for hemoglobinopathies.

Conclusion: Even though more research is needed to define which requirements are needed in our healthcare system, this study clearly shows the urgency of the problem and the need for action to increase informed reproductive decision making for the population at risk.