Iron overload: Pathogenesis, clinical manifestations, diagnosis, and prevention. Part 1

Iron overload: Pathogenesis, clinical manifestations, diagnosis, and prevention. Part 1

N.A. Romanenko^1,2, G.V. Grishina¹, D.V. Lastochkina¹ 

Nikolay A. Romanenko, e-mail: romanenko@niigt.ru

¹Russian Research Institute of Hematology and Transfusiology of the Federal Medical-Biological Agency of Russia, St. Petersburg

²North-Western State Medical University named after I.I. Mechnikov, St. Petersburg

Iron overload (IO) is a serious complication that develops in patients with hereditary hemochromatosis, chronic anemia, and in individuals who have received repeated transfusions of donor red blood cells. The clinical significance of IO is determined by the risk of hemosiderosis of internal organs, which may lead to progressive organ dysfunction, organ failure, and death.

This article provides a detailed overview of normal iron metabolism and the pathological changes that occur when iron homeostasis is disturbed. The main causes of IO are discussed, including inherited defects in the regulation of iron metabolism, primarily hereditary hemochromatosis; multiple red blood cell transfusions leading to post-transfusion IO; and acquired dysregulation of intestinal iron absorption associated with chronic anemia, including myelodysplastic syndrome and other conditions. Particular attention is given to the diagnostic approach to IO. Comprehensive assessment should include a detailed transfusion history, measurement of serum ferritin and transaminase levels, testing for mutations in genes associated with hereditary hemochromatosis, and morphological examination of the bone marrow with assessment of sideroblast content, which allows evaluation of hemosiderin deposition. MRI T2* relaxometry is also emphasized as an important noninvasive method for estimating iron accumulation in the liver, heart, and other organs. The review describes approaches to distinguishing hereditary hemochromatosis from secondary IO and outlines the key principles of prevention and treatment.

Keywords: anemia, hemosiderosis, hereditary hemochromatosis, MRI T2* relaxometry, iron overload, serum ferritin, red blood cell transfusion.

For citation: Romanenko N.A., Grishina G.V., Lastochkina D.V. Iron overload: Pathogenesis, clinical manifestations, diagnosis, and prevention. Part 1. RMJ. 2026;6:37–43. DOI: 10.32364/2225-2282-2026-6-7