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重型β地中海贫血合并急性髓系白血病

β-Thalassemia Major Complicated by Acute Myeloid Leukemia.

作者信息

Khalid Mehreen, Suhail Maymoona, Faisal Alizah, Poombal Fnu

机构信息

Department of Hematopathology, Armed Forces Institute of Pathology, Rawalpindi, PAK.

Department of Hematology, Armed Forces Institute of Pathology, Rawalpindi, PAK.

出版信息

Cureus. 2024 Sep 16;16(9):e69557. doi: 10.7759/cureus.69557. eCollection 2024 Sep.

Abstract

This report describes the rare co-occurrence of acute myeloid leukemia (AML) French-American-British type M2 in a 4.5-year-old boy with previously diagnosed thalassemia major, an inherited hemoglobinopathy, typically presenting with severe, transfusion-dependent anemia. Chronic transfusions, though lifesaving, can lead to iron overload, which may generate free radicals and potentially contribute to malignancy. Our case highlights the importance of close monitoring for secondary malignancies in thalassemia patients. Our patient born to consanguineous parents, presented with persistent fever, abdominal pain, and splenomegaly. Hematological investigations revealed severe cytopenias (low blood cell counts) and many immature blood cells (blasts). Bone marrow examination confirmed AML M2, characterized by an overabundance of myeloid blasts. Despite the initiation of myeloid leukemia-directed aggressive chemotherapy, the patient, unfortunately, succumbed to the disease within a month of diagnosis.

摘要

本报告描述了一名4.5岁男孩罕见地同时患有一种遗传性血红蛋白病——重型地中海贫血(通常表现为严重的、依赖输血的贫血)和法国-美国-英国协作组(FAB)分型M2型急性髓系白血病(AML)。长期输血虽能挽救生命,但会导致铁过载,进而产生自由基并可能促使恶性肿瘤发生。我们的病例凸显了对地中海贫血患者密切监测继发性恶性肿瘤的重要性。我们的患者父母为近亲结婚,出现持续发热、腹痛和脾肿大。血液学检查显示严重血细胞减少(血细胞计数低)以及许多未成熟血细胞(原始细胞)。骨髓检查确诊为AML M2型,其特征是髓系原始细胞过多。尽管启动了针对髓系白血病的积极化疗,但不幸的是,患者在确诊后一个月内死于该病。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6501/11486485/99129544de9e/cureus-0016-00000069557-i01.jpg

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