What is the diagnosis for a patient with thrombocytopenia (low platelet count) and hyperferritinemia (high iron) with increased iron saturation?

From the Guidelines

Low platelets and high iron and iron saturation require immediate medical attention to rule out hemochromatosis, a genetic disorder that can lead to iron overload and organ damage, and other conditions such as bone marrow disorders or liver disease. The combination of thrombocytopenia (low platelets) and elevated iron levels may suggest several possible conditions that necessitate thorough medical evaluation. According to the most recent guidelines, such as those from the European Association for the Study of the Liver (EASL) 1, it is crucial to assess serum iron parameters and consider non-invasive quantification of tissue iron using MRI to determine the extent of iron overload.

Key Considerations

• The patient should undergo a comprehensive diagnostic workup, including a complete blood count, liver function tests, genetic testing for hemochromatosis, and possibly a bone marrow biopsy to determine the underlying cause of their symptoms.
• Elevated transferrin saturation and ferritin levels can indicate iron overload, but these markers are not specific and can be influenced by other factors such as inflammation or alcohol consumption 1.
• MRI can be a valuable tool for detecting and quantifying iron in the liver, spleen, pancreas, heart, and brain, helping to guide diagnosis and management decisions 1.

Management

• Therapeutic phlebotomy is recommended for patients with hemochromatosis and iron overload to reduce iron levels and prevent organ damage 1.
• Patients should avoid iron supplements, vitamin C, alcohol, and medications that can affect platelet production, such as aspirin and NSAIDs, while awaiting medical care.
• Treatment of underlying conditions, such as liver disease or bone marrow disorders, may also be necessary to address the patient's thrombocytopenia and iron overload.

From the Research

Low Platelets and High Iron and Iron Saturation

• The relationship between iron parameters and platelet count is complex, with some studies suggesting that high iron levels can lead to decreased platelet counts 2.
• A study published in 2025 found that iron replacement therapy in patients with iron deficiency anemia led to a decrease in platelet counts, regardless of whether the patients had thrombocytosis or not 2.
• Another study published in 2013 found that platelet count inversely correlated with serum iron and transferrin saturation in women with iron deficiency anemia and thrombocytosis 3.
• High iron saturation has been associated with thrombocytosis in some cases, but the exact mechanism is not fully understood 3.
• Romiplostim, a thrombopoietin receptor agonist, has been shown to increase platelet production and reduce the need for other treatments in patients with immune thrombocytopenia 4, 5, 6.
• However, the use of romiplostim in patients with low platelets and high iron and iron saturation is not well established and would require further study.

Possible Causes

• Iron deficiency anemia is a common cause of anemia worldwide, and patients with IDA often present with thrombocytosis, but the relationship between iron metabolism and thrombopoiesis is not yet fully known 2, 3.
• Immune thrombocytopenia is an autoimmune bleeding disease caused by immune-mediated platelet destruction and decreased platelet production, and romiplostim has been shown to be effective in increasing platelet counts in patients with ITP 4, 5, 6.
• Other possible causes of low platelets and high iron and iron saturation include bone marrow disorders, pathologic conditions associated with surgical procedures, and hematologic disorders associated with severe aplastic anemia 4.