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一例伴有骨膜下血肿的重型β地中海贫血罕见病例报告。

Report of a Rare Case of Beta-Thalassemia Major With Subperiosteal Hematomas.

作者信息

Mahajan Parag S, Kolleri Jouhar J, Ait Souabni Sara, Prasad Sakshi, Belhaddad El Habib, Mohammed Hussain

机构信息

Clinical Imaging Department, Hamad Medical Corporation, Doha, QAT.

Family Medicine, Faculty of Medicine and Pharmacy, Cadi Ayyad University, Marrakech, MAR.

出版信息

Cureus. 2022 Apr 2;14(4):e23770. doi: 10.7759/cureus.23770. eCollection 2022 Apr.

Abstract

Beta-thalassemia represents a range of hemoglobinopathies that are a consequence of an impairment in the synthesis of beta-globin chains. They result in different degrees of hemolysis and ineffective erythropoiesis, depending on the underlying mutations. They can lead to severe complications mainly resulting from anemia. However, there is no bleeding tendency in this disorder, and it is uncommon to see hematoma formation in affected patients. To our knowledge, subperiosteal hematomas have been rarely described in the context of beta-thalassemia. Herein, we report a unique case of a 19-year-old boy who was diagnosed with transfusion-dependent beta-thalassemia and secondary hemochromatosis and developed atraumatic subperiosteal hematomas along the humerus.

摘要

β地中海贫血是一系列血红蛋白病,是β珠蛋白链合成受损的结果。根据潜在的突变情况,它们会导致不同程度的溶血和无效造血。它们主要会引发由贫血导致的严重并发症。然而,这种疾病不存在出血倾向,受影响的患者中很少见到血肿形成。据我们所知,β地中海贫血患者发生骨膜下血肿的情况鲜有报道。在此,我们报告一例独特病例,一名19岁男孩被诊断为依赖输血的β地中海贫血和继发性血色素沉着症,并在肱骨处出现了无创伤性骨膜下血肿。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7f07/9062281/835a72514ac5/cureus-0014-00000023770-i01.jpg

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