A Pilot Beta-Thalassaemia Screening Program in the Albanian Population for a Health Planning Program

Abstract

In Albania, no definite national screening programme of β-thalassaemia has yet been developed for carrier detection. Only limited information about the occurrence and the types of haemoglobin abnormalities is available. Thus, an educational and screening programme was carried out in one high school with a total of 217 young students from the coastal province of Lushnja in Albania. The pilot programme included a systematic sampling of whole saliva, DNA genomic extraction and the determination of defective β-thalassaemia genes by reverse dot-blot hybridization with 22 probes specific for the Mediterranean populations.Of the 201 subjects tested, 17 (8.4%) students turned out to be carriers of β-thalassaemia mutations and haemoglobin variants. The most common mutation is HbS (c.20A→T) with a frequency of 3.2%, followed by IVS-I-110 (G→A) (c.93-21G→A) substitution identified in 4 out of 402 chromosomes (1%). In the province of Lushnja, the frequency of β-thalassaemia carriers was high. As expected, the results show that identified mutations in this population are similar to those found in the east Mediterranean area, suggesting the same origin for mutant alleles during migratory streams. Implementation of a routine carrier-screening programme is significantly facilitated by the presence of only two mutations and would be a wise approach to prevent β-thalassaemia in the region.