Differential Diagnosis for Iron Overload
- Single Most Likely Diagnosis
- Hereditary Hemochromatosis: This is the most common cause of iron overload, an autosomal recessive disorder leading to excessive iron absorption from the gut, resulting in iron accumulation in various organs.
- Other Likely Diagnoses
- Transfusion-Related Iron Overload: Repeated blood transfusions can lead to iron overload, especially in patients with conditions like thalassemia major or sickle cell disease.
- African Iron Overload: Also known as Bantu siderosis, this condition is associated with increased iron intake from traditional beer brewed in iron containers.
- Porphyria Cutanea Tarda: A disorder of porphyrin metabolism that can lead to iron overload due to increased iron absorption.
- Do Not Miss Diagnoses
- Thalassemia Major: While not the primary cause of iron overload, thalassemia major can lead to significant iron accumulation due to frequent transfusions, and missing this diagnosis could be fatal due to the underlying anemia and organ damage.
- Acute Iron Poisoning: Though less common in adults, acute iron poisoning can occur and is a medical emergency, especially in children who may ingest iron supplements.
- Rare Diagnoses
- Aceruloplasminemia: A rare genetic disorder characterized by the absence of ceruloplasmin, leading to iron accumulation in the brain and other organs.
- Atransferrinemia: A rare condition where there is a lack of transferrin, a protein that binds iron in the blood, leading to iron overload.
- GRACILE Syndrome: A rare, fatal disorder of mitochondrial metabolism that includes iron overload among its features.
- Neonatal Hemochromatosis: A rare condition of iron overload presenting in the neonatal period, often requiring urgent treatment.