RESUMEN
BACKGROUND: Hereditary hernochrornatosis [HH] is a very rare disease in Iran and reported cases are all negative for HFE mutation. We report a family affected by severe juvenile hernochrornatosis [JH] with a detailed molecular study of the family members
METHODS: We studied a pedigree with siblings affected by juvenile HH and followed them for 3 years. Microsatellite and gene sequencing analysis was performed for all family members
RESULTS: Two siblings [the proband and his sister, aged 26 and 30 years, respectively] were found to have clinical findings of JH. The proband's brother, who presented with hyperpigmentation, died of probable JH at the age of 24 years. Gene sequencing analysis showed that the proband has a homozygote c.265T>C [p.C89R] HJV mutation + a heterozygote c.884T>C [p.V295A] mutation of HFE
The affected proband's sister presented with the same HJV c.265T>C [p.C89R] homozygote mutation. In addition, we found the HJV C.98-6OG polymorphic variant in both the sister and proband [homozygote]
Sequencing of hepcidin [HAMP], TfR2, and FPN revealed no mutation
CONCLUSION: We have shown that molecular analysis of the HH related gene is a powerful tool for reliable diagnosis of JH and, in conjunction with magnetic resonance imaging [MRI] and noninvasive liver stiffness measurement by elastography, is adequate tool for management and follow up of HH
RESUMEN
Background: patients with inherited bleeding disorders who regularly receive clotting factors are frequently infected with hepatitis C virus [HCV]. Liver biopsy in these patients is high-risk and not always performed. There is no report on pegylated interferon [PEG-IFN] and ribavirin in patients with bleeding disorders in whom no histologic data is available
Aim: to assess the safety and efficacy of combined PEG-IFN alfa-2a and ribavirin in patients with inherited bleeding disorders and hepatitis C. Methods: We studied 37 patients with inherited bleeding disorders and HCV infection. Patients where planned to receive pegylated interferon alfa 2a [PEG-IFN alfa-2a] 180 micg weekly and ribavirin 800mg daily for 48 weeks. They were then followed for 24 weeks after the end of treatment
Results: early virologic response at week 12 of treatment was achieved in 3 1/34 patients [91%] and end-of-treatment response was achieved in 30/3 1 patients [97%]. Sustained virologic response was 26/32 [81%] and 26/35 [74%] on per-protocol and intention-to-treat analysis respectively. Dose reduction due to adverse effects was necessary in 11 patients
Conclusion: the combination of PEG-IFN alpha 2a and ribavirin is safe and highly effective in patients with inherited bleeding disorders and HCV infection, even when histologic data is absent