Increased Red Blood Cell Count With High Hemoglobin Indicates a Different Diagnosis From Beta-thalassemia Trait, Regardless of Mean Corpuscular Volume

Hereditary hemochromatosis (HH) is an iron storage disorder characterized by increased iron absorption leading to elevated erythrocyte parameters, including red blood cell (RBC) count. It is the most common genetic disorder in Caucasians and is prevalent in populations with beta-thalassemia. In this study, we retrospectively analyzed the hematological data of 31 pediatric patients with molecularly confirmed HH who were mostly initially suspected of having beta-thalassemia trait (B-TT) due to erythrocytosis. In addition to erythrocytosis, we observed higher-than-expected hemoglobin (Hb) levels for age in these patients. Regardless of low MCV and normal RDW, elevated Hb levels in all patients distinguished them from B-TT cases. Their iron status was normal. These findings suggest that in patients with erythrocytosis and elevated Hb levels, despite other erythrocyte parameters suggestive of B-TT, the possibility of HH should be considered. Since iron overload has not yet developed in pediatric cases, understanding erythrocyte changes is essential for both differential diagnosis and thalassemia eradication.