Archive for Sunday, May 21, 2006

Rare disease in 5 kids traced to sperm donor

May 21, 2006

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— A sperm donor passed a rare and dangerous genetic ailment to five children born to four couples, doctors reported last week in a case that exposes a gap in the screening process.

The disease, severe congenital neutropenia, can be fatal in children if untreated but is so rare that sperm banks do not test for it. Moreover, the family medical history that sperm donors must provide would not necessarily reveal such a defect, especially if the man is only a carrier and has no symptoms.

The four couples used the same sperm bank, said Dr. Lawrence A. Boxer, lead author of the report in The Journal of Pediatrics.

Severe congenital neutropenia occurs in about one in 5 million births; Boxer said only about 500 children in the United States have the disease. Children with the disorder lack the type of white blood cell that kills bacteria, and as a result develop severe infections shortly after birth.

The children are doing well through daily injections of a drug that helps build up white blood cells and fight germs, Boxer said.

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