Eur J Med Genet
Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia. Electronic address:
Published: June 2017
Juvenile hemochromatosis is a rare but the most severe form of hereditary hemochromatosis which develops due to mutations in the HJV or HAMP genes. It presents in the early adulthood mainly as cardiomyopathy, hypogonadism and liver fibrosis. Unlike hereditary hemochromatosis due to HFE mutation, hepatocellular carcinoma is not known to be associated with juvenile hemochromatosis. Here, we report a patient of Arab ancestry who presented with severe cardiomyopathy. Sequence analysis of the HJV gene followed by homozygosity mapping, identified a previously undescribed homozygous missense variation in exon 3 (c.497A > G; p.H166R) in both the proband and his clinically asymptomatic brother. The former, later developed hepatocellular carcinoma. To the best of our knowledge, neither the mutation identified in our patient, nor a case of juvenile hemochromatosis with hepatocellular carcinoma has been reported before.
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http://dx.doi.org/10.1016/j.ejmg.2017.03.011 | DOI Listing |
Zhonghua Xin Xue Guan Bing Za Zhi
January 2025
Department of Cardiology, the First Affiliated Hospital of Soochow University, Suzhou215031, China.
Zhonghua Gan Zang Bing Za Zhi
November 2024
First Department of The Liver Disease Center, Beijing YouAn Hospital, Capital Medical University,Beijing100069, China.
The incidence of juvenile Hereditary Hemochromatosis caused by HAMP gene mutation is low, which is rarely reported in China. This patient took abnormal liver function as the first symptom, and was finally diagnosed by genetic testing and hepatic histopathology, and treated by venous bloodletting.
View Article and Find Full Text PDFJCEM Case Rep
November 2024
Department of Endocrinology Diabetes and Clinical Nutrition, Oregon Health Sciences University, Portland, OR 97239, USA.
World J Clin Cases
July 2024
Department of Endocrinology, China-Japan Friendship Hospital, Beijing 100029, China.
Br J Haematol
January 2024
SSD Rare Diseases-European Reference Network for Rare Hematological Diseases-EuroBloodNet-Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy.
Haemochromatosis (HC) encompasses a range of genetic disorders. HFE-HC is by far the most common in adults, while non-HFE types are rare due to mutations of HJV, HAMP, TFR2 and gain-of-function mutations of SLC40A1. HC is often unknown to paediatricians as it is usually asymptomatic in childhood.
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