Porphyria Cutanea Tarda and HFE Gene Mutations in Argentina.
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Date
2014-03-11
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Abstract
Aims: Porphyria Cutanea Tarda (PCT), the most common of porphyrias is triggered by
several factors, including iron overload. Type I Hereditary Hemochromatosis is inherited
as an autosomal recessive trait of the mutation p.C282Y or as a compound heterozygous form p.C282Y/p.H63D in HFE gene.
Our aim was to study the frequency of HFE mutations in Argentinean PCT patients and
in control subjects.
Place and Duration of Study: CIPYP, CONICET, Hospital de Clínicas José de San
Martín: Av. Córdoba 2351, 1º subsuelo, Buenos Aires, Argentina (1120). Between March
2008 and March 2010.
Methodology: We analyzed HFE mutations in 103 PCT patients (67 males, 36 females)
and in 93 control subjects (63 males and 30 females). PCT patients were classified as
familial, sporadic or Type III PCT measuring URO-D activity in red blood cells. HFE
mutations were detected by amplification and automatic sequencing of exons 2 and 4 in
the HFE gene. In some cases p.H63D and p.C282Y mutations were also detected by
digestion with restriction enzymes (Mbo I for p.H63D and Rsa I for p.C282Y), followed by
3% polyacrilamide gel electrophoresis.
Results: In PCT group, 34.9% carried mutation p.H63D (26.2% heterozygous, 5.8%
homozygous and 2.9% as p.C282Y/p.H63D) and 7.8% carried mutation p.C282Y (2.9%
in heterozygocity, 1.9% in homozygocity and 2.9% as p.C282Y/p.H63D). In the control
group, 30.1% carried p.H63D (28% in heterozygous and 2.1% in homozygous), and
5.4% had p.C282Y in heterozygosity. There were no significant differences between
sporadic and familial PCT and neither between PCT and control groups. Our findings are
in agreement with the prevalence of the Mediterranean origin of our patients, where
p.C282Y mutation is less common than p.H63D mutation.
Conclusion: We conclude that mutations in HFE gene do not play a relevant role in the
triggering of PCT in our country.
Description
Keywords
Porphyria Cutanea Tarda (PCT), sporadic PCT, familial PCT, Hereditary Hemochromatosis, p.C282Y mutation, p.H63D mutation
Citation
Federico Colombo, Javier Martinez, Laura Varela, Esther Gerez, Manuel Mendez, Alcira Batlle, Maria V Rossetti, Victoria E Parera. Porphyria Cutanea Tarda and HFE Gene Mutations in Argentina. British Journal of Medicine and Medical Research. 2014 Mar; 4(8): 1691-1700.