Over 90% of patients with sickle cell disease exhibit semen abnormalities, according to a recent review.

Published in Nature Reviews Urology, the study examined the impact of non-malignant red blood cell disorders on male fertility. Researchers identified hereditary haemoglobinopathies and bone marrow failure syndromes as major contributors to hypothalamic-pituitary-gonadal axis dysfunction, hypogonadism, and abnormal sperm parameters.

The study found over 90% of patients with sickle cell disease had semen abnormalities, with 40% showing low sperm concentration, over 60% poor sperm morphology, and over 80% low motility. Chronic transfusions required for β-thalassemia major lead to iron overload and potential hypogonadism, with approximately 50% of men with transfusion-dependent thalassemia having altered sperm parameters. Iron imbalance plays a crucial role, with iron overload causing hypogonadism and severe iron deficiency reducing gonadotropin release and sperm counts.

The researchers emphasized involving reproductive urologists in patient care, especially when gonadotoxic treatments are considered. They also advocated for genetic screening and counseling for hereditary conditions and the potential use of pre-implantation genetic testing to prevent disorder transmission.

The authors reported no conflicts of interest.