Cappellini M Domenica, Porter John B, Musallam Khaled M, Kattamis Antonis, Viprakasit Vip, Galanello Renzo, Taher Ali T
Universita di Milano, Ca Granda Foundation IRCCS, Milan, Italy.
University College London, London, United Kingdom.
Eur J Intern Med. 2016 Mar;28:91-6. doi: 10.1016/j.ejim.2015.10.003.
Patients with non-transfusion-dependent thalassemia (NTDT) present with a spectrum of disease severities. Since there are multiple pathophysiologies in such patients, tailoring treatment remains essential. Therefore, one simple, reliable tool would be beneficial to assess disease severity and tailor therapy, particularly for internal medicine specialists who may treat a variety of NTDT patients with a multitude of complications. This would allow for standardization of assessments leading to timely interventions and prevention of complications.
A working group of NTDT experts was formed to develop a new disease severity scoring system for adult and pediatric patients with NTDT, based on parameters considered to be most pertinent in defining disease severity.
20 parameters were selected for inclusion in the disease severity scoring system. An additional six parameters, largely related to growth and development, were selected specifically for pediatric patients (≤ 16 years of age). Consensus of expert opinion was used to establish the selected methods of assessment for each parameter, based on feasibility and availability of technology, cost containment, and avoidance of patient risk.
We propose that this new disease severity scoring system for adult and pediatric NTDT patients could be developed into a practical tool for widespread clinical use.
非输血依赖型地中海贫血（NTDT）患者存在一系列疾病严重程度。由于此类患者存在多种病理生理机制，因此量身定制治疗方案至关重要。因此，一个简单、可靠的工具将有助于评估疾病严重程度并量身定制治疗方案，特别是对于可能治疗各种伴有多种并发症的NTDT患者的内科专家而言。这将实现评估的标准化，从而实现及时干预并预防并发症。
成立了一个NTDT专家工作组，以基于被认为在定义疾病严重程度方面最相关的参数，为成年和儿科NTDT患者开发一种新的疾病严重程度评分系统。
20个参数被选入疾病严重程度评分系统。另外六个主要与生长发育相关的参数专门为儿科患者（≤16岁）选定。基于技术的可行性和可用性、成本控制以及避免患者风险，利用专家意见的共识来确定每个参数的选定评估方法。
我们建议，这种针对成年和儿科NTDT患者的新疾病严重程度评分系统可以发展成为一种广泛应用于临床的实用工具。
