Case report of hemochromatosis with HJV variation in a Chinese boy: "Non-parallel" phenomenon in phlebotomy treatment and new thinking on curative effect evaluation.

Abstract excerpt

RATIONALE: Juvenile haemochromatosis type 2A (JH 2A) is an autosomal recessive genetic disorder characterized by disrupted iron metabolism regulation and progressive iron overload due to HJV gene variation. The rapid onset and swift progression of JH 2A significantly reduce patients' survival time. Due to the atypical clinical manifestations, early diagnosis and treatment of JH 2A pose challenges for clinical...

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