Spermatozoal DNA damage in patients with B thalassaemia syndromes.
OBJECTIVE
to determine whether sperm DNA damage is increased in patients with beta-thalassaemia syndromes.


METHODS
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.


METHODS
Thalassaemia Centre of Paediatric and Adolescent Unit, Ferrara, Italy and Academic Research Institutions in the UK.


METHODS
twenty-eight thalassaemia major and thalassaemia intermedia patients attending the clinic for regular treatment.


METHODS
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.


METHODS
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.


RESULTS
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).


CONCLUSIONS
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.
De Sanctis
Vincenzo
V
Department of Reproduction, Paediatric and Thalassaemia Unit, St Anna Hospital, Ferrara, Italy. vdesanctis@libero.it
Perera
Doreen
D
Katz
Maurice
M
Fortini
Monica
M
Gamberini
Maria Rita
MR