The Latest Insights into the Genetic Landscape and Clinical Profile of Gaucher Disease in Albania

Document Type : Original paper


1 Pediatric Department, University Hospital "Mother Teresa", Tirana, Albania

2 University Hospital Center “Mother Teresa”, Pediatric Department, Gaucher Unit, Tirana


Background and aim: This study analyzed the clinical and genetic characteristics of Gaucher disease (GD) in an Albanian population.
Materials and methods: A total of 52 GD patients to non-consanguineous marriages and of the Albanian ethnicity were included in the study and categorized into different types of GD, with Type 1GD being the most common. Clinical symptoms such as splenomegaly, hepatomegaly, and thrombocytopenia were commonly observed.
Results: The study identified 18 different genotypes and 15 different mutations, including two novel mutations. The N370S mutation was the most frequent, followed by D409H and L444P. The presence of the N370S mutation was associated with milder disease, while other mutations reflected the variability in disease severity. A family with four distinct genotypes exhibited variability in GD manifestations. The double mutant allele D409H;H255Q, was found in a significant prevalence of patients and associated with an intermediate Type 2-3 GD phenotype. The L444P mutation was less frequent in the Albanian population.
Conclusion: These findings contribute to understanding the clinical and genetic aspects of GD in this population.


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