Secondary hemochromatosis: A case report with literature review

Hemochromatosis is a medical condition marked by the accumulation of too much iron in the body's tissues and organs, which leads to eventual organ fibrosis and decreased function. The most common cause of primary iron overload is genetic hemochromatosis, whereas secondary iron overload is primarily caused by β-thalassemia major and sickle cell disease, which necessitates prolonged transfusion therapy and causes transfusional hemosiderosis. One of the primary organs for storing iron is the liver, which also displays iron excess first. The autosomal recessive condition beta thalassemia major (BT) is brought on by a markedly reduced production of healthy beta globin chains. Regular transfusions of red blood cells are the most common treatment for this condition because they reduce anemia and decrease inefficient erythropoiesis. Complications of iron over load are Hepatocellular carcinoma, heart issues, and endocrine issues, in addition to liver cirrhosis. In order to start treatment and avoid problems, it is crucial to detect and quantify liver iron overload, different methods are used, Ferritin measurements and the liver iron concentration (LIC) assay are the two main ways to evaluate iron loading. The current gold standard method for assessing organ-specific hemosiderosis is magnetic resonance imaging (MRI), a non-invasive technique used for the assessment of distribution, detection, grading, and monitoring of treatment response in iron overload. We discuss the possible use of MRI in determining hemochromatosis in thalassemia major patients which is the most significant condition with an iron overload.

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Publication Details

Journal
Journal of Clinical and Experimental Gastroenterology
Published
2025-10-09
DOI
https://doi.org/10.46439/gastro.4.024
Primary Topic
Iron Metabolism and Disorders
Type
article
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article

Secondary hemochromatosis: A case report with literature review

Hina Naseer, Ramsha Fatima Qureshi, Mohammad Ayub Mansoor, Uzma Panhwer et al.
Journal of Clinical and Experimental Gastroenterology
Iron Metabolism and Disorders
article

Secondary hemochromatosis: A case report with literature review

Hina Naseer, Ramsha Fatima Qureshi, Mohammad Ayub Mansoor, Uzma Panhwer, Yousra Khattri, Mahnoor Mahnoor
article en

Abstract

Hemochromatosis is a medical condition marked by the accumulation of too much iron in the body's tissues and organs, which leads to eventual organ fibrosis and decreased function. The most common cause of primary iron overload is genetic hemochromatosis, whereas secondary iron overload is primarily caused by β-thalassemia major and sickle cell disease, which necessitates prolonged transfusion therapy and causes transfusional hemosiderosis. One of the primary organs for storing iron is the liver, which also displays iron excess first. The autosomal recessive condition beta thalassemia major (BT) is brought on by a markedly reduced production of healthy beta globin chains. Regular transfusions of red blood cells are the most common treatment for this condition because they reduce anemia and decrease inefficient erythropoiesis. Complications of iron over load are Hepatocellular carcinoma, heart issues, and endocrine issues, in addition to liver cirrhosis. In order to start treatment and avoid problems, it is crucial to detect and quantify liver iron overload, different methods are used, Ferritin measurements and the liver iron concentration (LIC) assay are the two main ways to evaluate iron loading. The current gold standard method for assessing organ-specific hemosiderosis is magnetic resonance imaging (MRI), a non-invasive technique used for the assessment of distribution, detection, grading, and monitoring of treatment response in iron overload. We discuss the possible use of MRI in determining hemochromatosis in thalassemia major patients which is the most significant condition with an iron overload.

Journal of Clinical and Experimental GastroenterologyVol. 4(1)
Liaquat National Hospital (PK)
Openalex Percentile: Top 64%
Iron Metabolism and Disorders
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