European Sperm Bank (ehem. Nordic Cryobank) – Donor 8311 / Bonne
The Federal Office for Safety in Health Care has been informed by the Danish authority that the Danish tissue bank "European Sperm Bank (formerly Nordic Cryobank)" (DK267572) of the illness of a sperm donor. the disease of a sperm donor.Investigations showed that the sperm donor 8311 / Bonne was heterozygous for the mutation c.1062 + 5G> A in the FAH gene and thus is a carrier of tyrosinemia type 1 (hepatorenal tyrosinemia, HT-1).
HT-1 is a rare genetic disorder caused by mutations in the FAH gene, resulting in Liver failure with comorbidities involving the renal and neurological systems.
Clinical Symptoms typically begin before the onset of 6 months of age through 2 years of age.
HT-1 is common in included in the newborn screening program in many countries, ensuring early diagnosis. diagnosis is ensured.
The risk assessment provided includes the following information:
HAT-1 is inherited in an autosomal recessive manner. If both parents are carriers, the risk is 25% in each pregnancy. pregnancy.
Children of this donor have a 50% risk of inheriting the mutation in the FAH gene.
Carriers do not develop symptoms of the disease.
Donor 8311 / Bonne has an increased risk of fathering a child with tyrosinemia type 1 (HT-1). He was therefore permanently blocked.
