One case of hereditary hemochromatosis caused by HAMP gene mutation
WANG Dandan
DUAN Tilong
HUANG Chaoqun
CONG Dongwei
Abstract：Hereditary hemochromatosis (HH) is a rare autosomal inherited disease. More than 90％ of HH cases are caused by mutations in the hemochromatosis gene on chromosome 6. Its pathogenesis is caused by mutations in iron metabolism related genes, leading to excessive absorption of iron in the small intestine. Excessive accumulation of iron in the patient's body leads to tissue damage such as liver, kidney, brain, and pancreas, clinically manifested as skin pigmentation, liver enlargement, cirrhosis, cardiac enlargement, arrhythmia, and heart failure. This article reports on the clinical manifestations and diagnostic process of a case of HH caused by genetic variation in HAMP.
Keywords：hereditary hemochromatosisliver cirrhosisgene testing for hemochromatosis
Publication Date：2024-02-28
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：3( 93-95 )