Viera Fábryová, Peter Božek, Monika Drakulová, Andrea Kollárová, Zuzana Laluhová-Striežencová, Michaela Macichová, Jana Netriová
Congenital diseases of haemoglobin, haemoglobinopathies, are the most common monogenic diseases in the world.
Originally prevalent in endemic areas with a high incidence of malaria today due to migration of the population are found
everywhere in the world. WHO higlights the increasing prevalence of haemoglobinopathies in Europe and recommends
number of epidemiological measures for European health systems concerning this subject. In the paper we are presenting
the results of twenty year study of haemoglobinopathies in Slovakia ,the overview of genetic mutations, their
relationship with hereditary hemochromatosis and approach in genetic counselling. The results are also available
in the European register for rare anaemias ENERCA (European Network for Rare and Congenital Anaemias).