Hereditary haemochromatosis and porphyria cutanea tarda in Argentina

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

Cadiff

Congreso; International Porphyrins and Porphyrias Meeting; 2011

British Society of Dermatologists

Hereditary haemochromatosis (HH) is an iron overload syndrome caused by increased duodenal iron absorption. Iron deposits are observed especially in liver, cirrhosis being 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 the HFE gene. Studies of C282Y and H63D mutations in HFE in different populations demonstrated an increase in their 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 mutations was observed in patients with PCT. Our aim was to study the frequency of HFE mutations in Argentinian PCT patients and control individuals. We analysed 103 PCT patients (67 males, 36 females) and 93 control subjects (30 males and 63 females). Exons 2 and 4 of HFE 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 HFE. The H63D mutation was found in 34Æ9% of the PCT group (26Æ2% in heterozygosity, 5Æ8% in homozygosity and 2Æ9% in compound heterozygous form). The C282Y mutation was found in 7Æ8% of the total group (2Æ9% in heterozygosity, 1Æ9% in homozygosity and 2Æ9% in compound heterozygous form). There were no differences between sporadic and familial PCT groups. In the control group 64Æ5% carried no mutations, and 30Æ1% carried H63D (28% heterozygous and 2Æ1% 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 patients and the control group in our country, indicating that triggering of PCT is not associated with the presence of these mutations in Argentina.