Background: Cystic fibrosis (CF) is the most common life-threatening genetic disease in the Western world. Its incidence varies between 1:4,000 and 1:2,500 among Europeans. No data are available on the incidence of CF among Albanians, mainly due to difficulties of the local health system.
Goals: To estimate the incidence of CF and the prevalence of healthy carrier status among Albanian ethnic people; to evaluate the incidence of hypertrypsinaemia at birth among Albanian newborns.
Methods: We used the database of the newborn screening of Tuscany, Italy for the period 1991-2005. Children born to both Albanian parents in Tuscany were identified and incidences were calculated.
Results: The incidence of CF among Albanians (1/555, 99% CI: 1/2,980-1/306) was significantly higher than the rest of the Tuscan population (1/4,101, 99% CI: 1/5,564-1/3,248). The prevalence of CF carrier status among Albanians living in Tuscany is estimated to be 1/12 (99%CI 1/27-1/9) while in the rest of the Tuscan population it is 1/32 (99%CI 1/37-1/28). The incidence of hypertrypsinaemia at birth among Albanian newborns (1/55 99%CI: 1/74-1/44) was significantly higher than in the rest of the population (1/84, 99%CI 1/88-1/82).
Conclusion: The incidence of CF among Albanians is considerably higher than expected. Albanian people have a risk to give birth to children with CF higher than the rest of Europeans. The implementation of a newborn screening program in Albania, together with a CF follow up program is highly advisable.
(c) 2008 Wiley-Liss, Inc.