Clinical research and preliminarily exploration of genetic basis on a hereditary hemochromatosis pedigree / 中华肝脏病杂志

ABSTRACT

<p><b>OBJECTIVE</b>To describe the clinical features of a hereditary hemochromatosis pedigree and to explore preliminarily the genetic basis of this pedigree.</p><p><b>METHODS</b>Survey was carried out among the family members, including history taking, physical examination, laboratory examination (such as iron-biochemistry indexes, liver function, blood sugar), multiple-organs MRI scan, iron staining of liver biopsy tissues and making the pedigree chart. The blood samples of the pedigree were collected, the genomic DNA was extracted, the PCR amplification was made and finally the sequence analysis for several mutations of common hereditary hemochromatosis genes was done.</p><p><b>RESULTS</b>In this pedigree, 7 members were found with iron overload and clinically diagnosed as hereditary hemochromatosis. The features are transmitted from generation to generation without gender difference and the gene penetrance is about 46%. The common mutations of SLC40A1 and HFE were not found in the family members.</p><p><b>CONCLUSION</b>Cutaneous pigmentation and iron overload in liver and spleen are the most typical characters in this hereditary hemochromatosis pedigree, which corresponds with autosomal dominant inheritance. However, the genetic basis of this pedigree is unknown yet.</p>