First case of rare disease transmission through sperm donor detected
A study in Spain identified the first documented case of transmission of a rare genetic disease through a sperm donor, raising questions about assisted reproduction controls.
TL;DR
- Researchers at Vall d'Hebron University Hospital and Santa Maria University Hospital have identified the first documented case globally of hereditary angioedema transmission via a sperm donor.
- The study, published in 'Frontiers in Immunology', found several individuals conceived through assisted reproduction from a single donor shared the same genetic variant (T328K F12 gene).
- Hereditary angioedema is a rare genetic condition causing swelling; the variant was passed from an asymptomatic donor to multiple offspring.
- The discovery raises questions about the effectiveness of current genetic screening for sperm donors, which primarily focuses on infectious diseases.
- Researchers suggest that targeted screening for the F12 gene could be considered in regions where this variant is more prevalent.