Referral for Discordant Iron Studies: Rising Iron with Falling Ferritin
You should request a referral to a hematologist for evaluation of possible hemochromatosis or other iron metabolism disorders, and consider gastroenterology referral to rule out occult gastrointestinal blood loss causing iron deficiency. 1
Understanding Your Abnormal Iron Pattern
Your laboratory values show a paradoxical pattern that requires specialist evaluation:
- Ferritin 12 ng/mL: This is severely low, indicating depleted iron stores (normal range typically 15-300 ng/mL) 1, 2
- Serum Iron 216 μg/dL: This is elevated (normal range typically 60-170 μg/dL)
- TIBC 376 μg/dL: This is at the upper limit of normal or slightly elevated
- Transferrin Saturation 57%: This is significantly elevated (normal is typically 20-45%)
This combination—low ferritin with high iron saturation—is highly unusual and suggests either iron metabolism disorder (like hemochromatosis) or ongoing blood loss with paradoxical iron handling. 1
Primary Referral: Hematology
A hematologist should be your first specialist consultation for the following reasons:
- Hemochromatosis evaluation: High transferrin saturation (>45%) with paradoxically low ferritin can occur in early or atypical hemochromatosis presentations, particularly in younger patients or those with non-HFE mutations 1
- Genetic testing: HFE gene mutations (C282Y, H63D) and non-HFE hemochromatosis genes (TFR2, HJV, HAMP, SLC40A1) should be evaluated 1
- Iron metabolism disorders: Other rare disorders of iron regulation need exclusion 1
The European Association for the Study of the Liver guidelines specifically note that there are no recognized threshold ferritin levels that exclude the need for specialist evaluation when iron parameters are discordant. 1
Secondary Referral: Gastroenterology
Gastroenterology referral is indicated to investigate occult blood loss, particularly if you have any of the following: 1, 3
- Age over 50 years
- Any gastrointestinal symptoms (even mild)
- Unexplained iron deficiency despite high serum iron
- Family history of gastrointestinal malignancy
Begin with colonoscopy if over age 50, as 9% of patients over 65 with iron deficiency have gastrointestinal cancer. 3 Upper endoscopy should also be considered, and celiac disease screening (tissue transglutaminase antibodies) should be performed if not already done. 1
Important Diagnostic Considerations
Why Your Doctor May Say "You're Fine" (But Isn't Correct)
Many clinicians focus only on hemoglobin levels and may miss this discordant pattern. Ferritin below 15-25 ng/mL indicates true iron deficiency regardless of other parameters. 1 However, your high transferrin saturation suggests iron is circulating but not being stored properly—this is not "fine."
Critical Pitfall to Avoid
Do not start iron supplementation before specialist evaluation. 1, 4 If you have undiagnosed hemochromatosis, iron supplementation could worsen iron overload in tissues (particularly liver and heart) even while ferritin remains low. This paradoxical situation can occur in certain hemochromatosis variants. 1
Additional Testing Your Specialists Should Order
- Complete hemochromatosis genetic panel (HFE and non-HFE genes) 1
- Liver MRI (R2, T2, or R2)** to assess hepatic iron content if hemochromatosis is suspected 1
- Reticulocyte count to assess bone marrow response 1
- C-reactive protein to rule out inflammation falsely affecting ferritin 1, 2
- Comprehensive metabolic panel including liver function tests 1
- Serum ferritin iron measurement (if available) to distinguish inflammatory ferritin from iron-storage ferritin 5
Urgency of Referral
Request these referrals promptly (within 2-4 weeks). While not an emergency, progressive iron dysregulation can lead to organ damage over time, particularly cardiac and hepatic complications in hemochromatosis. 1 The heart is particularly sensitive to rapid increases in circulating iron, and early intervention prevents irreversible damage. 1
What to Tell Your Doctor
If your primary care physician is dismissive, specifically state: "I have a transferrin saturation of 57% with a ferritin of 12, which is a discordant pattern requiring hematology evaluation for possible hemochromatosis or iron metabolism disorder per EASL guidelines." 1 Request the referrals in writing if necessary.