Hereditary haemochromatosis and porphyria cutanea tarda in Argentina

MARTÍEZ JAVIER; COLOMBO FEDERICO; VARELA, LAURA; GEREZ, ESTHER; MENDEZ MANUEL; BATLLE, ALCIRA; ROSSETTI, MARIA VICTORIA; PARERA, VICTORIA

Cardiff

Congreso; International Porphyrins and Porphyrias Meeting; 2011

Hereditary Hemochromatosis (HH) is an iron overload syndrome caused by increased duodenal iron absorption. Iron deposits are observed especially in liver, being cirrhosis the most important manifestation. HH Type I is inherited as an autosomal recessive trait of mutation C282Y or as a compound heterozygous form C282Y/H63D in HFE gene. Studies of C282Y and H63D mutations in HFE gene in different populations, demonstrated an increase in its frequency with respect to the control population, being more common in northern Europe and northern America than in the Mediterranean population. Porphyria cutanea tarda (PCT) is the most common cutaneous porphyria caused by partial deficiency of uroporphyrinogen decarboxylase. Symptoms in PCT include blisters in sun exposed areas, photosensitivity, skin fragility, hyperpigmentation and hypertrichosis. The clinical manifestation of PCT is associated with triggering factors, such as iron overload, alcohol, polyhalogenated hydrocarbons and steroid hormones.  In other populations a higher frequency of HFE gene mutations was observed in PCT patients. Our aim was to study the frequency of HFE mutations in Argentinean PCT patients and control individuals. We analyzed 103 PCT patients (67 males, 36 females) and 93 control subjects (30 males and 63 females). Exons 2 and 4 of HFE gene were amplified with specific primers and the amplified products were automatically sequenced or digested with restriction enzymes. Among this population, 60% carried no mutations in the HFE gene. H63D mutation was found in 34.9% of the PCT group (26.2% in heterozygocity, 5.8% in homozygocity and 2.9% in compound heterozygous form).  C282Y mutation was found in 7.8 % of the total group (2.9% in heterozygocity, 1.9% carried this mutation in homozygocity and 2.9 % were compound heterozygous). There were no differences between sporadic and familial PCT groups. In the control group 64.5 % carried no mutations, 30.1% carried H63D (28% heterozygous and 2.1% homozygous). C282Y was not detected in the control group. Our findings are in agreement with the prevalence of the Mediterranean origin of most of our patients, where C282Y mutation is not as common as H63D mutation. No significant differences were found between PCT and control group in our country, indicating that triggering of PCT is not associated with the presence of these mutations in Argentina.