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Two Chinese Patients with Hereditary Hemochromatosis not Caused by Mutations in HFE, HJV, HAMP, TFR2, or SLC40A1

Yan Feng, Hou-Qiang Su, Hui-Ping Jiang, Zhi-Ming Hao
Author Affiliation(s)
Department of Gastroenterology, 1st People’s Hospital of Kunming, Kunming, Yunnan, 650011, China (Yan Feng); Department Gastroenterology, 1st Affiliated Hospital, School of Medicine, Xi’an Jiaotong University, Xi’an, 710061, China (Yan Feng, Hou-Qiang Su, Hui-Ping Jiang, Zhi-Ming Hao)
Corresponding Author(s)
Zhi-Ming Hao (E-mail:
Subject Areas
Clinical medicine; Dermatology; Genetics; Medicine; Molecular and cell biology

Hereditary hemochromatosis (HH) is a group of iron overload-related diseases resulting from mutations in genes involved in the regulation of iron metabolism, and is relatively common in Caucasian countries but relatively rare in continental Asia. Here, we report two Chinese Han cases of HH and present the preliminary results of genetic analysis. Both cases manifested with skin pigmentation, hepatomegaly and liver dysfunction. Laboratory examination revealed aberrant iron metabolism, and liver biopsy demonstrated the deposition of hemosiderin. Secondary hemochromatosis was excluded based on the patient histories and related experimental examinations. For genetic analysis, the exons of the five reported HH-related genes, namely HFE, HJV, HAMP, TfR2, and SLC40A1, and the promoter regions of HFE and HAMP, were amplified by PCR from the genomic DNA extracted from peripheral mononuclear leukocytes, and the sequences were obtained via DNA sequencing. Our results showed that no nonsynonymous mutations are present in the five HH-related genes of the two patients. The two cases both harbor an HFE IVS2+4T/C heterozygous mutation. However, restriction fragment length polymorphism analysis showed that IVS2+4T/C is present as a homozygous mutation in 76.8% (43/56) and as a heterozygous mutation in 23.2% (13/56) of 56 non-HH individuals, indicating that HFE IVS2+4T/C has no pathological significance and has no relationship with HH. Therefore, the development of HH in these two cases may be caused by other genomic mutations.

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