OBJECTIVE: to determine whether sperm DNA damage is increased in patients with beta-thalassaemia syndromes. DESIGN: 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. SETTING: Thalassaemia Centre of Paediatric and Adolescent Unit, Ferrara, Italy and Academic Research Institutions in the UK. SUBJECTS: twenty-eight thalassaemia major and thalassaemia intermedia patients attending the clinic for regular treatment. INTERVENTIONS: 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. MAIN OUTCOME MEASURES: 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.
OBJECTIVE: to determine whether sperm DNA damage is increased in patients with beta-thalassaemia syndromes. DESIGN: 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. SETTING: Thalassaemia Centre of Paediatric and Adolescent Unit, Ferrara, Italy and Academic Research Institutions in the UK. SUBJECTS: twenty-eight thalassaemia major and thalassaemia intermediapatients attending the clinic for regular treatment. INTERVENTIONS: 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. MAIN OUTCOME MEASURES: 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-thalassaemiapatients 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-thalassaemiapatients. 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.
Authors: Sylvia T Singer; David Killilea; Jung H Suh; Zhiyue Jerry Wang; Qing Yuan; Kristen Ivani; Patricia Evans; Elliott Vichinsky; Roland Fischer; James F Smith Journal: Am J Hematol Date: 2015-07-22 Impact factor: 10.047
Authors: Mohamed A Yassin; Ashraf T Soliman; Vincenzo De Sanctis; Mohamed Osman Abdelrahman; Elsaid M Aziz Bedair; Manal AbdelGawad Journal: Indian J Endocrinol Metab Date: 2014-07
Authors: Robert West; Arri Coomarasamy; Lorraine Frew; Rachel Hutton; Jackson Kirkman-Brown; Martin Lawlor; Sheena Lewis; Riitta Partanen; Alex Payne-Dwyer; Claudia Román-Montañana; Forough Torabi; Sofia Tsagdi; David Miller Journal: Hum Reprod Date: 2022-05-30 Impact factor: 6.353