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Date Published: 03/02/2026
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DOI: https://doi.org/10.51298/vmj.v558i3.17273
Issue
Vol. 558 No. 3 (2026)
Section
Các bài báo
How to Cite
Huỳnh , H. P., Lê , T. Q. N., Hồ , Q. C., Nguyễn , M. H., Lê , M. T., & Trần , Q. B. (2026). HEREDITARY HEMOCHROMATOSIS: CASE REPORTS WITH HFE GENE MUTATIONS IN VIETNAM. Vietnam Medical Journal, 558(3). https://doi.org/10.51298/vmj.v558i3.17273

HEREDITARY HEMOCHROMATOSIS: CASE REPORTS WITH HFE GENE MUTATIONS IN VIETNAM

Hoài Phương Huỳnh 1, Thanh Quỳnh Ngân Lê 1,, Quốc Cường Hồ 1, Mạnh Hùng Nguyễn 2, Minh Thùy Lê 2, Quang Bính Trần 2
1 Tâm Anh Hospital in HCMC
2 Tâm Anh Hospital, Ho Chi Minh City

Main Article Content

Abstract

Background: Hereditary hemochromatosis (HH) is an autosomal recessive genetic disease with a variety of clinical manifestations, mainly in the liver. Although hereditary hemochromatosis is common in Caucasians, affecting more than 1 in 300 Northern Europeans, there is not much evidence in other populations. Currently, data on this disease in Vietnam remains insufficient. The diagnosis can be overlooked which may delay the initiation of early treatment, therefore, early identification is essential. We report two cases of hereditary hemochromatosis with liver diseases diagnosed at Tam Anh General Hospital, Ho Chi Minh City. The patients were diagnosed with liver diseases due to hereditary hemochromatosis with HFE gene mutations. The primary treatments included a low iron-absorption diet, phlebotomy, and iron chelation therapy. Following treatment, their conditions showed partial recovery and remained stable during the follow-up period. HH should be considered in cases of unexplained liver dysfunction. Liver imaging and gene sequencing are valuable tools for diagnosis. While liver biopsy is invasive, it can be instrumental in confirming the diagnosis in certain cases, which can significantly improve prognosis and quality of life. 

Article Details

Keywords

hereditary hemochromatosis, cirrhosis, HFE gene mutations, phlebotomy, iron chelation therapy

References

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