De Sanctis Vincenzo, Perera Doreen, Katz Maurice, Fortini Monica, Gamberini Maria Rita
Department of Reproduction, Paediatric and Thalassaemia Unit, St Anna Hospital, Ferrara, Italy.
Pediatr Endocrinol Rev. 2008 Oct;6 Suppl 1:185-9.
to determine whether sperm DNA damage is increased in patients with beta-thalassaemia syndromes.
prospective comparative assessment of sperm genomic integrity in thalassaemia patients and donor controls and correlation of sperm DNA damage with other measures of semen quality, reproductive hormones, ferritin, zinc and vitamin E levels.
Thalassaemia Centre of Paediatric and Adolescent Unit, Ferrara, Italy and Academic Research Institutions in the UK.
twenty-eight thalassaemia major and thalassaemia intermedia patients attending the clinic for regular treatment.
assessment of the degree of spermatozoa undergoing apoptosis by terminal deoxynucleotidyl transferase mediated assay (TUNEL) and measurement of the degree of those with compromised structural integrity as measured by the sperm chromatin structure assay (SCSA) using flow cytometry.
the degree of spermatozoal DNA damage by TUNEL and SCSA and the correlation between these measures and sperm motility, concentration, morphology and serum FSH, LH, sex hormone binding globulin, free and total testosterone, ferritin, zinc and vitamin E using regression analysis and Student t-test.
comparative analysis showed that beta-thalassaemia patients had significantly more sperm DNA damage (mean TUNEL=18.5%, SCSA=0.28) than controls (mean TUNEL=11.4%, mean SCSA=0.18) (p<0.001). Among thalassaemia patients there was a negative correlation between itchromatin structure damage and sperm concentration (r2=0.3, p<0.006). There was a significant negative correlation between serum ferritin levels and abnormal sperm morphology (r2=0.2, p<0.05).
compared to controls there was a higher degree of DNA damage in spermatozoa of beta-thalassaemia patients. Thalassaemic patients with low sperm concentrations were more likely to have a higher degree of defective chromatin packaging. The negative association between ferritin levels and abnormal sperm morphology suggests a possible detrimental effect on spermatogenesis by the iron chelator desferrioxamine, which is used to reduce iron overload. Thalassaemic patients especially those being considered for assisted conception procedures should be counselled accordingly.
确定β地中海贫血综合征患者的精子DNA损伤是否增加。
对地中海贫血患者和供体对照的精子基因组完整性进行前瞻性比较评估，并分析精子DNA损伤与精液质量、生殖激素、铁蛋白、锌和维生素E水平等其他指标的相关性。
意大利费拉拉儿科和青少年单元地中海贫血中心以及英国的学术研究机构。
28例定期到诊所接受治疗的重型地中海贫血和中间型地中海贫血患者。
通过末端脱氧核苷酸转移酶介导的检测法（TUNEL）评估精子发生凋亡的程度，并用流式细胞术通过精子染色质结构检测法（SCSA）测量结构完整性受损的精子程度。
通过TUNEL和SCSA检测精子DNA损伤程度，以及使用回归分析和学生t检验分析这些指标与精子活力、浓度、形态以及血清促卵泡激素（FSH）、促黄体生成素（LH）、性激素结合球蛋白、游离睾酮和总睾酮、铁蛋白、锌和维生素E之间的相关性。
比较分析显示，β地中海贫血患者的精子DNA损伤程度（平均TUNEL = 18.5%，SCSA = 0.28）显著高于对照组（平均TUNEL = 11.4%，平均SCSA = 0.18）（p < 0.001）。在地中海贫血患者中，染色质结构损伤与精子浓度呈负相关（r2 = 0.3，p < 0.006）。血清铁蛋白水平与异常精子形态之间存在显著负相关（r2 = 0.2，p < 0.05）。
与对照组相比，β地中海贫血患者精子中的DNA损伤程度更高。精子浓度低的地中海贫血患者更有可能具有更高程度的染色质包装缺陷。铁蛋白水平与异常精子形态之间的负相关表明，用于减轻铁过载的铁螯合剂去铁胺可能对精子发生有不利影响。应相应地为地中海贫血患者，尤其是那些考虑进行辅助生殖程序的患者提供咨询。
