A Case Report and Analysis: Hereditary Hemochromatosis Caused by a Splice Site Mutation in the HFE Gene

Abstract

Hereditary hemochromatosis (HH) is defined as an autosomal recessive iron metabolism disorder, typically characterized by excessive iron absorption leading to iron overload in multiple organs, particularly the liver, heart, and endocrine glands. Clinical manifestations commonly include diabetes, skin pigmentation, cirrhosis, abdominal pain, arthralgia, and fatigue. Mutations in the HFEgene, located on chromosome 6p22, have been identified as the primary genetic basis of HH. This gene encodes a protein critical for iron absorption and metabolism. Studies indicate that HH is most prevalent in European populations but rare in Asians. Due to reduced iron accumulation from menstrual blood loss in females, the disease predominantly affects adult males, with females often developing symptoms post-menopause. This article reports a rare case of HHin a premenopausal Chinese female caused by a homozygous HFE gene mutation (c.340 + 4T > C). The patient presented with chronic fatigue, abdominal pain, and lower limb petechiae. Diagnosis was confirmed via clinical evaluation, laboratory tests, and genetic analysis. This study identifies a novel pathogenic mutation in the Chinese population, contributing to early diagnosis and treatment of HH.