UNIVERSITY OF MALTA
LIFE SCIENCE RESEARCH SEMINARS
Web: http://events.um.edu.mt/scisem/
Email: scisem@um.edu.mt
Abstract form
Title: A first study on the frequency and phenotypic effects
of HFE gene mutations in the Maltese population.
Presenter: Ms Ruth Galdies
Contact address: Laboratory of Molecular Genetics,
Department of Pathology (on Campus), University of Malta, Msida,
Malta.
Tel: (+356)23402774
Fax: (+356)21343535
Email: gruth@biotech.um.edu.mt
Presentation date: 26th March 2007
Abstract
Haemochromatosis heterogeneity has been reported in south European populations.
However, no genetic studies have been carried out amongst subjects of Maltese descent to
determine the allelic and genotype frequencies and assess their phenotypic expression. In this
study, 250 anonymous DNA samples from randomly selected newborn subjects, 101
Beta-thalassaemia patients, and 32 patients with a clinical diagnosis of hereditary
haemochromatosis were selected. The C282Y mutation was found to be absent in
all the subjects tested. The overall allele frequencies of H63D and S65C were 18.5% and
0.6% respectively. Six subjects were found to be homozygous for H63D whereas three
subjects were found to be double heterozygote for H63D and S65C. No significant
difference was found in the HFE allele frequencies between the three categories of the
individuals studied. These results indicate that, unlike most European counterparts, C282Y is
not the cause of haemochromatosis in the Maltese islands. The study also shows no
significant difference in ferritin levels between different H63D genotypes amongst
patients with iron loading disorders, implying that other genetic and/or environmental factors
have an important role in the pathogenesis of haemochromatosis in Maltese patients. The
search for new HFE and HAMP mutations proved negative; however a genetic framework
for S65C is described for the first time.