Volume 45 Issue 8
Aug.  2024
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Lifang LIANG, Yushan XU, Xuan LI, Yan JIANG. A Case of X-Linked Sideroblastic Anemia Secondary to Hemochromatosis and Literature Review[J]. Journal of Kunming Medical University, 2024, 45(8): 133-138. doi: 10.12259/j.issn.2095-610X.S20240819
Citation: Lifang LIANG, Yushan XU, Xuan LI, Yan JIANG. A Case of X-Linked Sideroblastic Anemia Secondary to Hemochromatosis and Literature Review[J]. Journal of Kunming Medical University, 2024, 45(8): 133-138. doi: 10.12259/j.issn.2095-610X.S20240819

A Case of X-Linked Sideroblastic Anemia Secondary to Hemochromatosis and Literature Review

doi: 10.12259/j.issn.2095-610X.S20240819
  • Received Date: 2024-04-01
    Available Online: 2024-06-26
  • Publish Date: 2024-08-25
  •   Objective  To analyze and summarize case data of patients with X-linked sideroblastic anemia secondary to hematological diseases.   Methods  The clinical data of a case of X-linked sideroblastic anemia with secondary hemochromatosis admitted to the Department of Endocrinology of the First Affiliated Hospital of Kunming Medical University were retrospectively analyzed, and the related literatures were reviewed.  Results  The patient presented with persistent fatigue and sought medical attention at multiple hospitals, yet the underlying cause remained elusive. Subsequently, the patient was admitted to the Department of Endocrinology of the First Affiliated Hospital of Kunming Medical University due to hyperglycemia and cutaneous pigmentation. Following comprehensive diagnostic procedures including bone marrow aspiration, genetic testing, liver CT scan, and MRI examination, a definitive diagnosis was established. The patient’ s clinical symptoms exhibited improvement subsequent to iron chelation therapy. Later, the patient died of heart failure due to irregular iron treatment.  Conclusion  Diabetes caused by hemochromatosis is a special type of diabetes. Diagnosing this disease not only relies on serological and imaging examinations, but genetic testing is also very important. In clinical practice, when skin pigmentation combined with diabetes and liver function abnormalities are found, hemochromatosis should be considered. Genetic testing can not only assist in diagnosing hemochromatosis, but also help distinguish between primary and secondary hemochromatosis
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