Genetic diagnosis history and osteoarticular phenotype of a non-transfusion secondary hemochromatosis

Core Tip

Core Tip: Hemochromatosis (HC) is divided into two major classes: Primary and secondary. Iron overload in the patient’s body causes iron deposition in various tissues and organs, which leads to functional or structural changes. It is not easy to identify the cause of various iron overload diseases because the phenotypes overlap. Therefore, it is particularly important to use genetic tests to determine the genetic background of patients. It took us 10 years to diagnose HC using different genetic testing methods in a 61-year-old male who presented with pain and swelling in the left knee joint, jaundice, hemolytic anemia, microcytic hypochromic anemia, iron overload, hypolipidemia and normal blood glucose. The patient was primarily diagnosed with hematological disease or bone metastases. The selection of genetic detection methods for HC still needs to be based on an in-depth study of the clinical manifestations of the disease.