Balkan Journal of Medical Genetics

MOLECULAR GENETIC CHARACTERIZATION OF b-THALASSEMIA AND SICKLE CELL SYNDROME IN THE ALBANIAN POPULATION
Babameto-Laku A1,*, Mitre A2, Berisha S2, Mokini V1, Roko D1
*Corresponding Author: Anila Babameto-Laku, University Hospital Center “Mother Teresa”, Faculty of Medicine, Service of Medical Genetics, Rruga Dibres, 307, Tirana, Albania; Tel.: +68-20-94-170; Fax: +355-4-227-2782; E-mail: laku62@yahoo.com
page: 45

INTRODUCTION

b-Thalassemia (b-thal) (OMIM 141900), the most common hereditary anemia in the Mediterranean region, results from over 200 causative mutations in the b-globin gene (HBB) [1]. These are responsible either for reduction (b+) or complete absence (b0) of the b chain and lead to a mild-to-severe hemolytic anemia [2]. Despite the molecular heterogeneity, the prevalent molecular defects are limited in number in each population that is at risk. Such mutations can be detected by a number of polymerase chain reaction (PCR)-based procedures. The most used methods are reverse dotblot analysis or primer-specific amplification, with a set of probes complementary to the most common mutations in a particular population, and denaturing high performance liquid chromatography (HPLC) [3]. Should these methods fail to detect a mutation, sequence analysis can detect any mutation in the HBB coding region. Like most other neighboring countries in the region, Albania is affected by thalassemia and hemoglobin (Hb) disorders. It is estimated that the overall carrier frequency of b-thal and sickle cell anemia is about 7-8%. Most patients are located in the provinces along the Adriatic and Ionian coasts where malaria used to be endemic [4]. The aim of this study was to determine the different b-thal alleles that are present in the Albanian population using a highly sensitive, cost-effective and suitable method for the high throughput screening of a large number of samples.

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