Care for Haemoglobinopathy Patients in Slovakia

INTRODUCTIONCongenital diseases of haemoglobin, haemoglobinopathies, are the most common monogenic diseases worldwide. They arise by mutations of the genes for globin chains of haemoglobin. Basically, they are divided into two groups: thalassaemias arising as quantitative defects of normal globin genes with a decreased production of globin chains and structural haemoglobinopathies, which arise as qualitative structural defects of globin genes with the production of pathological globin chains.Haemoglobinopathies existed originally mostly in the areas with high incidence of malaria, such as Mediterranean regions, some regions of Africa and South-East Asia. Since plasmodia of malaria were unable to survive in the afflicted erythrocytes, the haemoglobin mutations carriers had selective advantage survival and they were able to transfer the mutated genes to future generations.However, over the past decades the situation has radically changed. Owing to migration of the population from the aforementioned areas to Europe, Northern America and Australia, haemoglobinopathies started to appear in the countries in which they were previously practically unknown (1). Moreover, haemoglobinopathies often appear in serious clinical forms that require exacting diagnostics and treatment leading to economic burden on healthcare systems of the countries, which often cannot cope with the situation. Except for this, the gene pool of European countries also changes (not only in haematology), which may have consequences in the future (2). Furthemore, in Central Europe possible combination of silent alleles should not be underestimated (mostly in heterozygote form) in the original inhabitants as they may outlive in the population for long centuries after the Tartarian and Turkish invasions or in migrants from Southern Europe with new alleles and with the onset of serious homozygotic forms of diseases.The World Health Organization (WHO) pinpointed this problem as early as in the nineties of the past century and initiated the foundation of the European Network for Rare and Congenital Anaemias (ENERCA), whose role is to map the incidence of rare anaemias in the European states, to assist in epidemiological studies, diagnostics and treatment of rare anaemias, and finally numerically express the financial impact on healthcare systems (3). ENERCA along with other organizations dealing with the relevant problems, such as the Thalassaemia International Federation (TIF), proposed the creation of the directives for followup and screening of haemoglobinopathies in the countries with sporadic incidence and screening programmes for countries with high incidence of these diseases (2, 4, 5).Slovakia belongs to the first group of countries in which the issue of haemoglobinopathies has not drawn much professional interest so far. However, the efforts to map haemoglobinopathies both in Slovakia and the Czech Republic have already been observed (6). With respect to the already mentioned changing geopolitical situation, in 1993, we decided to establish a study group for beta-thalassaemia and other haemoglobinopathies and began with the search of haemoglobinopathies in Slovakia. The centre of the study included 3 haematology centres in Bratislava (University Hospital Kramare, Synlab Company; Paediatric Faculty Hospital, Department of Haematology; and Hospital St. Michael, Department of Haematology) and L. Pasteur Faculty Hospital, Department of Haematology in Kosice. Besides, 70 doctors from various workplaces participated in the study, who referred the patients or sent samples for examination to the above centres. The ongoing results of the study were published (7). The study lasted up to the year 2015 and the obtained results are currently presented.MATERIALS AND METHODSPatients with suspected haemoglobinopathies were addressed in the local haematological surgeries or were sent directly to the aforementioned haematological centres. …