Lansbergen G.W.A.,Afdeling Klinisch Chemie |
Van Rooijen-Nijdam I.,Afdeling Klinisch Chemie |
Haanappel K.,Afdeling Klinisch Chemie |
Kok P.J.M.J.,Afdeling Klinisch Chemie |
And 2 more authors.
Nederlands Tijdschrift voor Klinische Chemie en Laboratoriumgeneeskunde
The Groene Hart Hospital serves a population of some 240,000 people, from varying ethnic backgrounds and living in the Gouda-city environment, situated in the western and middle part of the Netherlands. The Department of Clinical Chemistry performs hemoglobinopathy diagnostics for almost twenty years now. Results with the discovery of several new mutations are described here. In the period 1992-2008, hemoglobinopathy diagnostics were performed for a total of 2,438 patients; hemoglobinopathy was diagnosed in a total of 660 patients, of which 206 (31%) were heterozygous β-thalassemia, 157 (24%) heterozygous α +-thalassemia, 60 (9%) sickle-cell trait HbAS and 43 (6.5%) heterzygous α °-thalassemia. Furthermore, uncommon traits associated with hemoglobinopathy were observed including new mutations with unique mechanisms. New hemoglobin variants have been published as Hb-Gouda, Hb-Groene Hart, Hb-Bleuland and Hb-Sint Josef. For effective prevention management, all frequently diagnosed hemoglobinopathies have been registered in detail in our data base. Source