What is the diagnosis for an 11-year-old with hypoferritinemia, elevated Transferrin (Tf), elevated Total Iron-Binding Capacity (TIBC), low Transferrin Saturation (TSAT), normal Serum Iron (SI) levels, and Vitamin B12 deficiency?

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Differential Diagnosis for Low Ferritin, Elevated Transferrin, Elevated TIBC, Low % Saturation, Normal Iron, and Low Vitamin B12 in an 11-Year-Old

  • Single Most Likely Diagnosis
    • Iron deficiency anemia: This condition is characterized by low ferritin levels (indicating depleted iron stores), elevated transferrin and TIBC (reflecting the body's attempt to capture more iron), and low % saturation (showing that the available transferrin is not fully saturated with iron). The normal iron level might seem contradictory but can be seen in early stages of iron deficiency before serum iron levels drop. Low vitamin B12 can coexist due to similar dietary deficiencies or malabsorption issues.
  • Other Likely Diagnoses
    • Vitamin B12 deficiency anemia: While the primary indicators point towards iron deficiency, the low vitamin B12 level suggests that this could also be a contributing factor, especially if there are symptoms like fatigue, weakness, or neurological issues. Vitamin B12 deficiency can lead to a decrease in the production of red blood cells, affecting overall health.
    • Anemia of chronic disease: This condition can present with low ferritin, elevated TIBC, and low % saturation, especially if the child has an underlying chronic disease. However, the normal serum iron level and the specific pattern of other parameters make this less likely compared to iron deficiency anemia.
  • Do Not Miss Diagnoses
    • Celiac disease: This autoimmune disorder can lead to malabsorption of both iron and vitamin B12, resulting in deficiencies. It's crucial to consider this diagnosis due to its potential long-term consequences on health and the fact that it can be asymptomatic or present with non-specific symptoms.
    • Inflammatory bowel disease (IBD): Similar to celiac disease, IBD can cause malabsorption of essential nutrients, including iron and vitamin B12, leading to deficiencies. Early diagnosis and treatment are vital to prevent long-term complications.
  • Rare Diagnoses
    • Transferrin deficiency: A rare genetic disorder characterized by very low levels of transferrin, which can lead to an inability to transport iron effectively. However, this would typically present with very low TIBC and might not fit perfectly with the elevated TIBC seen in this case.
    • Atransferrinemia: Another rare condition where transferrin is nearly absent, leading to iron overload in tissues but low serum iron levels. This diagnosis is rare and would require specific testing to confirm.
    • Gastric bypass or other surgical causes of malabsorption: Though rare in an 11-year-old, if the child has undergone any gastrointestinal surgery, this could lead to malabsorption of iron and vitamin B12.

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This information is intended for healthcare professionals. Any medical decision-making should rely on clinical judgment and independently verified information. The content provided herein does not replace professional discretion and should be considered supplementary to established clinical guidelines. Healthcare providers should verify all information against primary literature and current practice standards before application in patient care. Dr.Oracle assumes no liability for clinical decisions based on this content.

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