Lesić A, Bogdanović A, Sudjić V, Suvajdzić-Vuković N, Atkinson H D E, Bumbasirevi M
Institute for Orthopaedic Surgery and Traumatology, CCS, School of Medicine, Belgrade.
Acta Chir Iugosl. 2010;57(2):99-102. doi: 10.2298/aci1002099l.
Beta thalassemia major is rare in Serbia. Previously incurable, affected patients now live to adulthood with regular blood transfusions. The improvement in supportive treatment over recent decades has given rise to many more patients suffering from the associated metabolic complications of anaemia and iron overload, such as osteopenia and other skeletal changes. We present two patients with severe beta thalassemia major from early childhood, who encountered pathological long-bone fractures during the clinical course of their disease. One suffered a distal femoral diaphyseal fracture, and the second a distal tibia fracture. Both fractures occurred in osteopenic bone and were managed non-operatively due to the patients' general medical condition. Despite intense medical intervention, both patients died from disease progression within one year of their fractures, aged 23 and 24 years. As life expectancy rises it is anticipated that an increased number of beta thalassemia major patients will suffer pathological long-bone and other osteoporotic fractures. These fractures appear to both herald and contribute to a general clinical deterioration of this disease. Advances in stem-cell technology may hold the key for a definitive cure.
重型β地中海贫血在塞尔维亚较为罕见。以前无法治愈，如今通过定期输血，患病患者可活到成年。近几十年来支持性治疗的改善导致更多患者出现贫血和铁过载的相关代谢并发症，如骨质减少和其他骨骼变化。我们报告了两名自幼患有重型β地中海贫血的患者，他们在疾病临床过程中遭遇病理性长骨骨折。一名患者发生股骨干远端骨折，另一名患者发生胫骨远端骨折。两处骨折均发生在骨质减少的骨骼，且由于患者的总体健康状况而采用非手术治疗。尽管进行了积极的医学干预，但两名患者均在骨折后一年内因疾病进展死亡，年龄分别为23岁和24岁。随着预期寿命的提高，预计会有更多重型β地中海贫血患者发生病理性长骨骨折和其他骨质疏松性骨折。这些骨折似乎既预示着该疾病的总体临床恶化，又促使其恶化。干细胞技术的进步可能是实现根治的关键。
