Vaskulárna medicína 2/2014

Vascular aspects of the hemoglobinopathy S

Major haemoglobinopathies, mainly sickle cell disease and thalassaemia major are rare genetic blood disorders that affect more than 300,000 newborns every year worldwide. These disorders are endemic in the Mediterranean, Africa and Asion regions. Due to emigration from these countries they are currently the most rare diseases of genetic origin in Europe. The WHO and European Network for rare and congenital anaemias (ENERCA) draw attention to the targeted and comprehensive policy measures in all European countries. For sickle cell disease is typical chronic hemolytic anaemia but the most serious clinical symptoms are vaso-occlusive crisis in splanchnic and cerebral blood vessels. Labor tests for the diagnostic of the haemoglobin S are already actual in our country, too.

Keywords: haemoglobin S, sickle cell anaemia, vaso-occlusive crisis, ENERCA.