Department of Medicine and Medical Specialties, IRCCS Cà Granda Foundation Maggiore Policlinico Hospital, 20122 Milan, Italy.
Cold Spring Harb Perspect Med. 2012 Jul;2(7):a013482. doi: 10.1101/cshperspect.a013482.
Our understanding of the molecular and pathophysiological mechanisms underlying the disease process in patients with β-thalassemia intermedia has substantially increased over the past decade. Earlier studies observed that patients with β-thalassemia intermedia experience a clinical-complications profile that is different from that in patients with β-thalassemia major. In this article, a variety of clinical morbidities are explored, and their associations with the underlying disease pathophysiology and risk factors are examined. These involve several organs and organ systems including the vasculature, heart, liver, endocrine glands, bone, and the extramedullary hematopoietic system. The effects of some therapeutic interventions on the development of clinical complications are also discussed.
在过去的十年中，我们对中间型β-地中海贫血患者疾病过程中分子和病理生理学机制的理解有了很大的提高。早期的研究观察到，中间型β-地中海贫血患者的临床表现与重型β-地中海贫血患者不同。本文探讨了各种临床并发症，并研究了它们与潜在疾病病理生理学和危险因素的关系。这些并发症涉及包括血管、心脏、肝脏、内分泌腺、骨骼和骨髓外造血系统在内的多个器官和器官系统。本文还讨论了一些治疗干预措施对临床并发症发展的影响。
