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