珠海地区重型β-地中海贫血患儿的生存状况

Survival status of children with β-thalassemia major in Zhuhai

目的从行政区域范围了解珠海地区重型β-地中海贫血(β-TM)患儿生存状况。方法分析2014年1月至2015年12月广东珠海≤14岁β-TM患儿的治疗依从性、生长发育和器官功能状况以及β-TM年出生人数。结果研究期间珠海共62例,57例(91.9%)依从调查和随访。57例并发症发生率:脾大77.2%,肝大61.4%,生长迟缓59.6%,ALT升高22.8%,亚临床甲状腺功能减退14.0%,左心射血分数降低7.0%,胰岛素抵抗5.3%。不规范输血主要影响脾大和心功能,而不规范祛铁则影响血清铁蛋白、生长发育、ALT、内分泌系统和心功能;血清铁蛋白多数未得到良好控制。22.8%和36.2%患儿不规范输血和祛铁治疗,医保覆盖和知识宣教是首位和次位影响因素。新出生β-TM逐年减少。结论珠海的调查结果在一定程度上反映我国中上发达地区β-TM患儿的生存状况;医疗保障、宣教及规范治疗仍是今后工作的重点。

Objective To investigate the survival status of children with β-thalassemia major(β-TM)in Zhuhai based on the population of the administrative region.Methods The treatment compliance,growth and development and organs’ function of patients under 14 years old with β-TM in Zhuhai of Guangdong Province from January 2014 to December 2015 as well as the annual number of newborn β-TM were analyzed.Results There were 62 β-TM children in Zhuhai during the study period,and 57(91.9%)were enrolled who were willing to participate in surveys and completed followup assessment. The incidence of complications was:77.2% with splenomegaly,61.4% hepatomegaly,59.6% growth retardation,22.8% high alanine aminotransferase(ALT),14.0% subclinical hypothyroidism,7.0% decreased left ventricular ejection fraction and 5.3% insulin resistance. Non-standardized blood transfusion affected the severity of splenomegaly and cardiac function,while non-standardized iron chelation mainly affected serum ferritin(SF)level,growth and development,ALT,endocrine system and cardiac function. SF level was not well controlled in most of the patients. There were 22.8% and 36.2% of the patients who did not receive standardized blood transfusion and standard iron chelation therapy,respectively. Medical insurance and publicity were the first and second influencing factors. The annual birth rate of β-TM cases decreased yearly.Conclusion The investigation results of β-TM cases in Zhuhai reflect,to a certain extent,the survival status of children with β-TM in the moderately developed areas of China. Medical insurance,health education and standardized treatment are still the focuses of work in the future.