title: Care for Haemoglobinopathy Patients in Slovakia.
abstract: BACKGROUND
  The paper presents the results od 22-year study of screening and follow-up of haemoglobinopathies in Slovakia, an overview of genetic mutations, the coincidence with hereditary haemochromatosis mutations, and the procedure in genetic councelling.
  
  
  METHODS
  Between 1993-2015, in three centres in Bratislava and in one centre in Kosice, carriers of beta-thalassaemic genes or other haemoglobinopathies were searched for. Diagnosis was performed by haematologists, whereby the family history was evaluated, together with the overall clinical condition, blood count and blood smear, iron and haemolysis parameters, mutations of hereditary haemochromatosis, and haemoglobin electrophoresis testing. In the last years the haemoglobin division also examined by high performance liquid chromatography (HPLC).
  
  
  RESULTS
  A clinical suspicion of the heterozygous form of beta-thalassaemia or other haemoglobinopathies was documented in 554 patients. Of them 32 (5.8%) were foreigners. 213 (38.45%) patients were genetically examined. In 190 (33.93%) of them heterozygote beta-thalassaemia was confirmed. The most frequent mutations were IVS 1.110 (33.15%), IVS 2.1 (33.15%), and IVS 1.6 (14.7%). Evidence of haemoglobin S (heterozygote sickle cell anaemia) was also notable in two non-relative children, whose fathers were of African origin, and one patient from Ghana. One female patient was followed up for haemoglobin Santa Ana (non-stabile haemoglobin previously diagnosed as mutation de novo). In our group, we took care of pregnant patients with haemoglobinopathies.
  
  
  CONCLUSIONS
  The study showed that there is a higher number of heterozygotes for beta-thalassaemia and rarely haemoglobinopathies in Slovakia. Over the past years, we have recorded an increase number of foreigners coming to our country. It is necessary to continue in search of pathological gene carriers to avoid serious forms of haemoglobinopathies.
authors.affiliation: Department of Haematology, Hospital St. Michael, Bratislava, Slovakia.
authors.forename: Viera
authors.initials: V
authors.lastname: Fábryová
authors.affiliation: Department of Haematology, Hospital St. Michael, Bratislava, Slovakia.
authors.forename: Peter
authors.initials: P
authors.lastname: Božek
authors.affiliation: Laboratory of Haematology, Synlab Slovakia, Bratislava, Slovakia.
authors.forename: Monika
authors.initials: M
authors.lastname: Drakulová
authors.affiliation: Laboratory of Molecular Genetic, Faculty Hospital, Nitra, Slovakia.
authors.forename: Andrea
authors.initials: A
authors.lastname: Kollárová
authors.affiliation: Department of Haematology, Paediatric Faculty Hospital, Bratislava, Slovakia.
authors.forename: Zuzana Laluhová
authors.initials: ZL
authors.lastname: Striežencová
authors.affiliation: Department of Haematology, L. Pasteur Faculty Hospital, Košice, Slovakia.
authors.forename: Michaela
authors.initials: M
authors.lastname: Macichová
authors.affiliation: Department of Haematology, Paediatric Faculty Hospital, Bratislava, Slovakia.
authors.forename: Adriena
authors.initials: A
authors.lastname: Sakalová
mesh_terms: D000328:Adult; D005260:Female; D005817:Genetic Counseling; D006453:Hemoglobinopathies / Q000453:epidemiology / Q000235:genetics / Q000628:therapy*; D006579:Heterozygote; D006801:Humans; D009154:Mutation; D011247:Pregnancy; D018154:Slovakia / Q000453:epidemiology
keywords: ENERCA; Slovakia; epidemiological study; haemoglobinopathies; sickle cell anaemia; thalassaemias