重型地中海贫血的生存情况及疾病并发症

Survival and disease complications in thalassemia major.

作者信息

Borgna-Pignatti C, Rugolotto S, De Stefano P, Piga A, Di Gregorio F, Gamberini M R, Sabato V, Melevendi C, Cappellini M D, Verlato G

机构信息

Department of Clinical and Experimental Medicine, University of Ferrara, Italy.

出版信息

Ann N Y Acad Sci. 1998 Jun 30;850:227-31. doi: 10.1111/j.1749-6632.1998.tb10479.x.

DOI:10.1111/j.1749-6632.1998.tb10479.x

PMID:9668544

Abstract

We studied survival and disease complications in 1,146 patients with thalassemia major, born from January 1, 1960 to December 31, 1987. At last follow-up, in March 1997, probability of survival to age 20 years was 89% and to age 25 years was 82% for patients born in the years 1970-1974. Patients who died had a serum ferritin level, measured the year before death, significantly higher than those who survived. Diabetes was present in 5.4% of the patients; heart failure in 6.4%; arrhythmias in 5.0%, thrombosis in 1.1%, hypothyroidism in 11.6%, HIV infection in 1.8%. Hypogonadism was diagnosed in 55% of 578 patients who had reached pubertal age: 83.5% of hypogonadic females and 78.6% of males were receiving substitutive hormonal therapy. In conclusion, the survival of patients with thalassemia major is good and improving, but the prevalence of severe complications is still high.

摘要

我们研究了1960年1月1日至1987年12月31日出生的1146例重型地中海贫血患者的生存情况和疾病并发症。在1997年3月的最后一次随访中，1970 - 1974年出生的患者活到20岁的概率为89%，活到25岁的概率为82%。死亡患者在死亡前一年测得的血清铁蛋白水平显著高于存活患者。5.4%的患者患有糖尿病；6.4%患有心力衰竭；5.0%患有心律失常，1.1%患有血栓形成，11.6%患有甲状腺功能减退，1.8%感染艾滋病毒。在578名已到青春期的患者中，55%被诊断为性腺功能减退：83.5%的性腺功能减退女性和78.6%的男性正在接受替代激素治疗。总之，重型地中海贫血患者的生存情况良好且在改善，但严重并发症的患病率仍然很高。