Treatment for 65-Year-Old Male with HFE C282Y Homozygosity and Hemoglobin 17.5
This patient requires therapeutic phlebotomy if he has elevated serum ferritin levels, regardless of symptoms, as early treatment before cirrhosis or diabetes develops ensures normal survival. 1
Initial Assessment Required
Before initiating treatment, you must determine the extent of iron overload and assess for liver disease:
- Measure serum ferritin and transferrin saturation immediately 1
- Check liver enzymes (ALT, AST) and platelet count 1
- If ferritin >1000 µg/L OR elevated liver enzymes are present, perform liver biopsy to stage fibrosis and assess for cirrhosis 1
Treatment Algorithm Based on Findings
If Ferritin is Elevated (Above Normal Range)
Initiate therapeutic phlebotomy immediately 1:
- Remove 500 mL of blood (1 unit) weekly until ferritin normalizes 1
- Each unit removes approximately 200-250 mg of iron 1
- Continue weekly phlebotomy during "de-ironing" phase 1
- Once ferritin reaches 50-100 µg/L, transition to maintenance phlebotomy (typically every 2-4 months) 1
If Ferritin is Normal
- Monitor with annual serum ferritin and transferrin saturation 1
- Initiate phlebotomy if ferritin rises above normal range 1
Expected Treatment Outcomes
Phlebotomy before cirrhosis develops provides excellent results 1:
- Malaise, fatigue, skin pigmentation, and abdominal pain respond well to treatment 1
- Insulin requirements for diabetics improve 1
- Hepatic fibrosis may reverse in approximately 30% of cases 1
- Survival normalizes if treatment begins before cirrhosis or diabetes 1, 2
Poor Response Features
- Arthropathy and hypogonadism show minimal or no improvement 1
- Established cirrhosis does not reverse 1
- If cirrhosis is present, continue lifelong surveillance for hepatocellular carcinoma even after successful iron depletion 1
Critical Pitfalls to Avoid
Do not delay treatment waiting for symptoms to develop 1. The hemoglobin of 17.5 g/dL is actually elevated (likely secondary polycythemia from iron overload effects), not a contraindication to phlebotomy. This makes phlebotomy even more appropriate as it will address both the iron overload and the elevated hemoglobin 1.
Do not assume this patient is asymptomatic without specific questioning 1. Ask specifically about:
- Fatigue and malaise
- Joint pain (especially metacarpophalangeal joints)
- Abdominal pain
- Sexual dysfunction
- Skin changes 1
At age 65 with C282Y homozygosity, assume significant iron accumulation has occurred 1. The critical window for preventing irreversible organ damage may be closing, making prompt evaluation and treatment essential 1, 2.
If cirrhosis is found on biopsy, the risk of hepatocellular carcinoma remains elevated (30% of HH-related deaths) even with successful phlebotomy 1. These patients require ongoing HCC surveillance with imaging every 6 months 1.