A family with hereditary hemochromatosis carrying HFE gene splice site mutation: a case report

Objective To investigate a new type of HFE gene mutation in a family with hereditary hemochromatosis( HH). Methods The analysis of HFE gene was performed for one patient with a confirmed diagnosis of HH and five relatives. Blood genomic DNA was extracted and PCR multiplication was performed for the exon and intron splice sequences of related HFE,HJV,HAMP,transferrin receptor 2( TfR2),and SLC40A1 genes. After agarose gel electrophoresis and purification,bi- directional direct sequencing was performed to detect mutation sites. Results The proband had abnormal liver function and increases in serum iron,total iron binding capacity,serum ferritin,and transferrin saturation,as well as T→C homozygous mutation in the fourth base of intron 2 in the intervening sequence of the exon EXON2 of HFE gene( IVs 2 + 4T→C,C / C homozygous,splicing,abnormal). There were no abnormalities in HJV,HAMP,TfR2,and SLC40A1 genes. The proband's son had the same homozygous mutation,three relatives had heterozygous mutations,and one relative had no abnormal mutations. Conclusion Gene detection plays an important role in the diagnosis of hemochromatosis,and IVs 2 + 4T→C mutation may be a new pathogenic mutation for HH in China.