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

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 doctors.

PATIENT CONCERNS

An 11-year-old male, student, was hospitalized for a 2-week history of obvious fatigue accompanied by chest tightness after the activity. The patient's chest tightness symptoms improved after rest and there was no joint pain.

DIAGNOSIS

The patient's serum iron parameters were elevated and the liver magnetic resonance imaging (MRI) suggested liver iron overload. After genetic testing, the patient was diagnosed as HJV Y46X/C321X compound heterozygous mutation. He was diagnosed with JH 2A.

INTERVENTIONS

The patient was treated with prompt and regular phlebotomy treatment and limit the intake of foods with high iron content. The patient's condition improved.

OUTCOMES

The patient's liver injury was reversed, the patient's growth and development proceeded without further complications.

LESSONS

Early phlebotomy treatment can reverse the progression of the disease. Nevertheless, the nonparallel phenomenon of serum ferritin and liver iron deposition observed during maintenance treatment has prompted a reconsideration of the assessment of the curative effect of phlebotomy treatment. Liver R2* may be equally important.