Can a patient with alpha thalassemia and anemia with hypoferritinemia be given iron supplements?

Iron Supplementation in Alpha Thalassemia with Hypoferritinemia

Iron supplementation should NOT be given to this patient with alpha thalassemia, even with a ferritin <50 ng/mL, as thalassemia patients typically have normal or elevated iron stores despite low ferritin levels, and iron supplementation risks dangerous iron overload. 1

Key Diagnostic Considerations

Thalassemia should be suspected in patients with microcytic anemia and normal or elevated ferritin levels, distinguishing it from true iron deficiency anemia 1. In your patient's case, the ferritin <50 ng/mL is misleading because:

• Serum ferritin levels do not reliably correlate with actual liver iron concentrations in alpha-thalassemia patients, particularly in non-deletional forms where ferritin levels remain relatively low even with significant iron overload 2
• The correlation between serum ferritin and liver iron concentration is modest and varies significantly among different alpha-thalassemia genotypes 2
• Alpha-thalassemia patients commonly have iron overload from ineffective erythropoiesis and increased intestinal iron absorption, even without transfusions 1, 3

Why Iron Supplementation is Contraindicated

Iron supplementation in thalassemia patients leads to progressive iron overload with serious complications:

• Thalassemia causes ineffective erythropoiesis and premature red blood cell destruction, which already increases iron absorption from the gut 1
• Serum ferritin levels in both Hb H disease and beta-thalassemia are typically higher than normal, even in minimally transfused patients 3
• Iron deposition occurs in the heart, liver, endocrine organs, and skeletal system, causing significant morbidity 1
• The initial misdiagnosis of iron deficiency anemia in thalassemia patients can lead to inappropriate iron supplementation and life-threatening iron overload 4

Proper Assessment Required

Before any consideration of iron therapy, this patient needs:

• Hemoglobin electrophoresis to characterize the thalassemia subtype 1
• MRI-T2 evaluation of liver iron concentration (LIC)*, as this is necessary for accurate assessment in alpha-thalassemia patients, especially since ferritin is unreliable 2
• Genetic testing to confirm the specific alpha-thalassemia mutation (deletional vs. non-deletional) 1, 2
• Transferrin saturation measurement, as this may be elevated even with low ferritin 4

Clinical Pitfall to Avoid

The most critical error is assuming that low ferritin equals iron deficiency in a patient with thalassemia. This case mirrors reported instances where patients with thalassemia were mistakenly given iron supplementation based on low MCV and presumed low iron stores, leading to iron overload complications 4. The normal hemoglobin you mention further supports that this patient does not have true iron deficiency requiring supplementation.

Management Approach

• Monitor hemoglobin levels and iron studies regularly without providing iron supplementation 4
• If the patient develops symptomatic anemia, treatment options include transfusions, hydroxyurea, or luspatercept—not iron 1
• If iron overload develops (which is the typical concern in thalassemia), iron chelation therapy may be needed, not iron supplementation 1, 5