Original Paper

A Pilot Beta-Thalassaemia Screening Program in the Albanian Population for a Health Planning Program
Leila Baghernajad-Salehi^a, Maria Rosaria D’Apice^a, Anila Babameto-Laku^b, Michela Biancolella^c,1, Anila Mitre^b, Silvia Russo^c, Nicola Di Daniele^d, Federica Sangiuolo^{a, c}, Vahe Mokini^b, Giuseppe Novelli<sup>a, c, e

a</sup>U.O.C. Genetica Medica, Fondazione Policlinico Tor Vergata, Rome, Italy;
^bUniversity of Tirana and University Hospital Center Mother Teresa, Service of Medical Genetics, Tirana, Albania;
^cDepartment of Biopathology and Diagnostic Imaging, Tor Vergata University, and
^dInternal Medicine Department, Fondazione Policlinico Tor Vergata, Rome, Italy;
^eArkansas University for Medical School, Little Rock, Ark., USA

Address of Corresponding Author

Acta Haematol 2009;121:234-238 (DOI: 10.1159/000226423)

  Key Words

• Albanian screening programmes
• β-Thalassaemia
• HbS

  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.

Copyright © 2009 S. Karger AG, Basel

  Author Contacts

Giuseppe Novelli
Dipartimento di Biopatologia e Diagnostica per Immagini
Università di Roma Tor Vergata, Fondazione Policlinico Tor Vergata
Viale Oxford, 81, IT–00133 Roma (Italy)
Tel. +39 06 2090 0664, Fax +39 06 2090 0669, E-Mail novelli@med.uniroma2.it

  Article Information

Received: February 23, 2009
Accepted: April 2, 2009
Published online: June 29, 2009
Number of Print Pages : 5
Number of Figures : 2, Number of Tables : 1, Number of References : 18