What labs are used to monitor for hemochromatosis?

Laboratory Monitoring for Hemochromatosis

Monitor hemoglobin at every phlebotomy session, serum ferritin monthly during induction (or every 4th phlebotomy), and every 6 months during maintenance, with transferrin saturation checked periodically to ensure treatment targets are achieved. 1

Core Monitoring Parameters During Treatment

Hemoglobin Monitoring

• Check hemoglobin at every single phlebotomy session during both induction and maintenance phases 1
• Decrease phlebotomy frequency if hemoglobin falls below 12 g/dL 1
• Consider reducing blood volume removed in specific cases when hemoglobin is <12 g/dL 1
• Discontinue phlebotomy entirely if hemoglobin drops below 11 g/dL and reassess with blood tests and clinical evaluation 1

Serum Ferritin Monitoring Schedule

During Induction Phase:

• Measure serum ferritin monthly (or after every 4th phlebotomy session) 1
• When ferritin decreases below 200 μg/L, increase monitoring frequency to every 1-2 phlebotomy sessions until target is reached 1
• Target ferritin level is 50-100 μg/L to avoid both under-treatment and iron deficiency 1

During Maintenance Phase:

• Monitor serum ferritin every 6 months to ensure levels remain within target range 1
• Adjust phlebotomy schedule based on these results 1

Transferrin Saturation Monitoring

• While evidence-based target levels are lacking, transferrin saturation should be monitored periodically 1
• Transferrin saturation may remain elevated (>50%) even when ferritin is within target range in HFE-related hemochromatosis 1
• Observational data suggest that prolonged transferrin saturation >50% may be associated with general and joint symptoms regardless of ferritin levels 1

Additional Laboratory Monitoring

Liver Function Tests

• Monitor transaminases (ALT, AST) to assess hepatic involvement 1
• Platelet count should be checked, as thrombocytopenia combined with ferritin >1,000 μg/L suggests advanced fibrosis 1

Vitamin Monitoring

• Periodically check plasma folate and plasma cobalamin (vitamin B12), especially in patients requiring numerous phlebotomies 1
• Administer vitamin supplements if deficiencies are detected 1

Important Monitoring Principles

Red Flags Requiring Investigation

• Unexpected changes in serum ferritin or transferrin saturation should always be investigated, as significant fluctuations are not typical features of hemochromatosis 1
• This may indicate concurrent conditions such as inflammation, malignancy, or other liver disease 1

Avoiding Overtreatment

• Serum ferritin monitoring is essential to prevent overtreatment and iatrogenic iron deficiency 1
• Depletion to ferritin <50 μg/L can lead to further hepcidin reduction and increased iron absorption 1
• Symptomatic iron deficiency can develop in hemochromatosis patients if monitoring is inadequate 1

Initial Diagnostic Laboratory Panel

For context, the initial diagnostic workup includes:

• Iron panel: Transferrin saturation (calculated from serum iron and transferrin or TIBC) and serum ferritin 1
• Full blood count with reticulocytes to exclude anemia and red cell disorders 1
• Diagnostic thresholds: Transferrin saturation >45% and ferritin >200 μg/L (females) or >300 μg/L (males) 1