Novel mutation of transferrin receptor 2 causing hereditary hemochromatosis type 3 in a Japanese patient

被引:0
作者
Tamai, Yasuyuki [1 ]
Hosotani, Masami [1 ]
Shigefuku, Ryuta [1 ]
Tsuboi, Junya [1 ,2 ]
Iwasa, Motoh [1 ]
Okugawa, Yoshinaga [2 ]
Nakagawa, Hayato [1 ]
机构
[1] Mie Univ, Grad Sch Med, Dept Gastroenterol & Hepatol, Edobashi 2-174, Tsu, Mie 5148507, Japan
[2] Mie Univ, Grad Sch Med, Dept Genom Med, Tsu, Japan
基金
日本学术振兴会;
关键词
hemochromatosis; hereditary hemochromatosis; iron; transferrin receptor 2; IRON OVERLOAD; TFR2; GENE; VARIANTS; SERVER;
D O I
10.1111/hepr.14079
中图分类号
R57 [消化系及腹部疾病];
学科分类号
摘要
Hereditary hemochromatosis (HH) is recognized as a progressive iron-storage disorder, and leading to severe organ impairments, including liver cirrhosis. Hereditary hemochromatosis type 3 arises from mutations in the transferrin receptor 2 (TFR2) gene. However, HH type 3 is rare in Asia, and information regarding genetic mutations and associated phenotypes remains limited. Here, we reported the case of a Japanese patient with HH type 3, with a novel homozygous mutation of the TFR2 gene. A 69-year-old woman presented to our hospital with hand joint pain and was referred due to liver impairment. Viral hepatitis and autoimmune liver diseases were ruled out. However, the transferrin saturation was 92.2%, and the serum ferritin level was 1611.8 ng/mL. Additionally, abdominal computed tomography showed diffuse increased density of the liver parenchyma. Abdominal magnetic resonance imaging also suggested iron deposition. There is no history of prior treatments involving blood transfusions or iron agents. Her parents were involved in a consanguineous marriage, prompting genetic testing. She had a homozygous novel mutation, c.1337G>A (p.G446E), in the TFR2 gene. Serum hepcidin-25 level was decreased to 2.9 ng/mL. According to the American Society of Medical Genetics and Genomics guideline, the mutation was classified as likely pathogenic, leading to the diagnosis of HH type 3. Following phlebotomy, her arthritis resolved, and serum transaminase levels were normalized. This case marks the first demonstration of homozygous mutation, c.1337G>A (p.G446E), in the TFR2 gene in patients with HH type 3.
引用
收藏
页码:155 / 160
页数:6
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