Balkan Journal of Medical Genetics

THE SPECTRUM AND FREQUENCY OF CYSTIC FIBROSIS MUTATIONS IN ALBANIAN PATIENTS
Kasmi I, Kasmi G, Basholli B, Sefa HS, Vevecka E
*Corresponding Author: Ass. Prof. Irena Kasmi, Pediatric Clinic, Pediatric Department, University Hospital Center “Mother Teresa”, Tirana, Albania. Address: Street Dibra 372, Tirana, Albania. Tel: + 355 67 2066175, E-mail: irenakasmi@hotmail.com
page: 31

DISCUSSION

This study aims to shed some light on the current situation about CF mutation pattern, presenting data from patients with CF followed during 2019 in the Department of Pediatrics in the UHCMT. Practically, UHMCT is the only center which diagnoses and follows cystic fibrosis patients in Albania. It is important to note that in Albania no CF national neonatal screening has been applied until now. It is assumed that the incidence would be higher if neonatal screening program would take place. The Albanian population is composed of an ethnic group originating in the Balkan peninsula. There are ap- proximately five million Albanians in this region, with roughly half living in Albania and the other half in Kosovo, Northern Macedonia, Montenegro and smaller populations in Croatia and Serbia. Significant numbers of the Albanian population are also found in Greece and smaller insignifi- cant communities in Bulgaria and Romania as well. Alba- nians also make up a significant diaspora, spread all over the world, especially in North America, Europe and Oceania. According to the latest census of the National Institute of Statistics Albania (INSTAT), the current population of Albania is 2,876,591 inhabitants [7]. The most common CFTR mutation is F508del, either in homozygous or heterozygous form. In Europe, this mutation is met in 82% of patients with CF (41% homozygous and 41% heterozygous) [9]. Among European countries, there are different variations of this CFTR mutation prevalence, from Denmark 83.2% [10], to a minimal prevalence in Turkey of only 24.5% [11]. This confirms the northwest to southeast gradient in the F508del distribution in Europe [11]. The Albanian population expresses a high prevalence of F508del mutation, in comparison to other populations in the region. Thus, in neighboring Italy is 43.9% [12], in North Macedonia is 75.9% [13], in Serbia and Montenegro it is 72.28 % [14]. In Albania, there is a high prevalence of this mu- tation which is characteristic of Central, Northern and Northeastern Europe. This fact is well known and previ- ously explained due to early migrations of the Caucasian population towards Northwestern Europe and Southeastern Europe, and thereafter the migration through the Mediter- ranean routes from Middle East and Africa towards Europe [11]. The second migration seems to have left the Albanian population unaffected. The second most prevalent mutation found in the Al- banian population is 621+1G>T (2,56%). This mutation is most prevalent in Southern Europe, found more frequently in our neighboring country Greece (6.4%) [10], while in North Macedonia this mutation is under 2% [15]. The third most prevalent mutations found in the Al- banian population are G85E (2.13%) and E822X (2.13%). The G85E mutation, is most frequent in Israel (2.6%) [10]. E822X, R1066C, G1349D, S466X, 1811+1G->C, E831X, CFTRdele2-3(21kb) mutations were newly found in the patients of our study. The latter, the CFTRdele2- 3(21kb) mutation, was found in only one patient in this study, is found mainly in Slavic and Eastern and Central European populations [16]. The most frequent result of this mutation is in Belarus (11.2%) [10] There are 14 CFTR mutations and 18 confirmed geno- types. To define the optimal treatment for an individual patient, genotyping of CFTR is clearly the first step [17].

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