Giriş ve Amaç: Karaciğer herediter hemokromatoziste etkilenen organların başında gelmektedir. Karaciğer sirozunda 2 önemli alt başlık olan kriptojenik siroz ile Hepatit B Virus (HBV) ilişkili sirozda HFE gen mutasyonları ile ilgili kısıtlı bilgiye sahibiz. Bu hasta gruplarında HFE gen mutasyonlarını inceledik. Gereç ve Yöntem: Çalışmaya 58 sirozlu hasta alındı. Hastalar eşit sayıda 2 gruba ayrıldı. 1.grubu kriptojenik sirozlar; 2. grubu HBV zemininde gelişen sirozlular oluşturdu. Her iki grupta HFE geninin 12 mutasyonuna bakıldı: V53M, V59M, H63D, H63H, S65C, Q127H, P160delC, E168Q, E168X, W169X, C282Y, Q282P. Bulgular: 58 hastanın 18'i kadın, 40'ı erkekti. Ortalama yaş 1. grupta 44.35±20.6; 2. grupta 49.39±12.17 idi. İki grup arasında istatistiksel anlamlı fark yoktu (p=0.230). Kriptojenik sirozlularda toplam allelik H63D mutasyon oranı %24.13 (7/29) bulundu. Bir hastada (1/29; %3.44) C282Y heterozigot mutasyonu saptandı. İkinci grupta toplam allelik mutasyon oran %20.68 (6/29) idi. Mutant hasta sayısı itibariyle iki grup arasında istatistiksel anlamlı farklılık saptanmadı (p=1.0). H63D ve C282Y mutasyonlarının total prevalansı sırasıyla %22.4 (13/58) ve %1.72 (1/58) olarak saptandı. H63D homozigotluğu %3.44 (2/58), heterozigotluğu %18.96 (11/58) sıklıkta saptandı. Sonuç: Kriptojenik ve HBV sirozlularda HFE gen mutasyonu oranları benzer bulundu. C282Y mutasyonu bölgemizde ilk kez bu çalışma ile ortaya kondu.

Background/aims: The liver leads the list among the affected organs in hereditary hemochromatosis. We have limited knowledge about HFE gene mutations in cryptogenic cirrhosis and hepatitis B virus -related cirrhosis, which are the two important sub-titles in liver cirrhosis. We studied HFE gene mutations in these patient groups. Methods: Fiftyeight patients with cirrhosis were included in the study. The patients were divided into two equal groups. Group 1 consisted of patients with cryptogenic cirrhosis and Group 2 of patients with cirrhosis appearing on the base of hepatitis B virus . The following 12 mutations of the HFE gene were studied in both groups: V53M, V59M, H63D, H63H, S65C, Q127H, P160delC, E168Q, E168X, W169X, C282Y, and Q282P. Results: Eighteen patients were female and 40 were male. The average age in the first group was 44.35±20.6 and in the second group was 49.39±12.17; there was no statistically significant difference between the groups (p=0.230). In the cryptogenic cirrhosis patients, the total rate of allelic H63D mutation was found as 24.13% (7/29). C282Y heterozygote mutation was determined in one patient (1/29; 3.44%). In the second group, total allelic mutation rate was 20.68% (6/29). No statistically significant difference was determined between the two groups with respect to mutation rates (p=1.0). The total prevalences of H63D and C282Y mutations were found as 22.4% (13/58) and 1.72% (1/58), respectively. H63D homozygosity was found as 3.44% (2/58) and heterozygosity as 18.96% (11/58). Conclusions: The HFE gene mutation rates in cryptogenic and hepatitis B virus cirrhosis were found to be similar. C282Y mutation has been put forward in this study for the first time in our area.