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Sperm Donor Seen as Source of Disease in 5 Children
NY Times ^ | May 19, 2006 | DENISE GRADY

Posted on 05/19/2006 6:51:12 PM PDT by neverdem

A sperm donor in Michigan passed a rare and serious genetic disease to five children born to four couples, doctors are reporting today.

The doctor who discovered the cases said that all four couples were clients of the same sperm bank. That bank, the doctor added, assured him that it had discarded its remaining samples from the man and had told him he could no longer be a donor.

It is not known how many children the donor had fathered, whether he knew he carried the disease before he donated sperm, or whether the bank had informed him of his condition after learning about it. The doctor declined to name the sperm bank.

A report on the cases is being published today in The Journal of Pediatrics.

An expert in genetics and reproductive medicine who is not associated with the report, Dr. Joe Leigh Simpson at the Baylor College of Medicine, said that sperm donors are routinely tested for most common genetic diseases, like cystic fibrosis and sickle cell anemia, but not for extremely rare ones like severe congenital neutropenia, the one afflicting the Michigan children.

Children with the disease lack a type of white blood cell called a neutrophil, according to the doctor who discovered the cases, Dr. Lawrence A. Boxer, the director of pediatric hematology and oncology at the University of Michigan, and an author of the report. As a result, the children are highly vulnerable to infections and prone to leukemia.

Without treatment, many die in childhood. But daily shots of a drug called Neupogen can help them make the missing cells and fight off infections. It does not ward off leukemia, though. The drug costs $200 a day, but, Dr. Boxer said, many get it free as part of a study.

"The kids are doing terrific,"...

(Excerpt) Read more at ...

TOPICS: Health/Medicine; Local News
KEYWORDS: genetics; health; heredity; infertility; ivf; leukemia; medicine; mosaicism; neutropenia; spermbank; spermdonor
mosaicism (mo·sa·i·cism) (mo-za´ĭ-siz-əm) in genetics, the presence in an individual of two or more cell lines that are karyotypically or genotypically distinct and are derived from a single zygote. Cf. chimerism.

gonadal m. mosaicism that results from mosaicism within the gonad so that some of the germ cells are mutants. More than one offspring of a gonadal mosaic for a dominant trait may show the trait although it is not manifested in the parent.

1 posted on 05/19/2006 6:51:13 PM PDT by neverdem
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To: neverdem
I worked in with cyclic neutropenia back from 1978 to 1982. There was a family nearby that had three sons affected with the disease and it was disheartening to watch these boys' lives ebb away from them as the entered puberty. Their wbc counts would drop below 1000/cu mm every 21 days and they would develop severe infections. We had canines that had the same genetic disease and their cycles were on a 13 day interval. The kidneys would develop amyloidosis and the dogs would die from uncontrollable infections that defied antibiotics. Unfortunately, I watched the three boys pass on because at that time anything we used on the dogs didn't work either. The disease is called Grey Collie Syndrome because the cyclic neutropenia is linked to the hair coat gene in the dog.
2 posted on 05/19/2006 7:05:01 PM PDT by vetvetdoug
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To: vetvetdoug

I noticed this thread was switched to chat almost immediately. I had expected no further comments on this thread, let alone one that was intelligent and informative. Your comment was quite a surprise!

3 posted on 05/19/2006 7:20:23 PM PDT by neverdem (May you be in heaven a half hour before the devil knows that you're dead.)
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To: neverdem
Never know what someone's been up to in their past. AMGEN came out with Epogen (erythropoetin) I think about 1983-4 and was one of the first little breakthroughs in fighting the genetic disease. Other breeds that show the cyclic neutropenia are beagles, boxers, and Australian shepherds. I diagnose it in a dog about once a year because I worked so closely with the disease in the past. I am sure this sperm donor had no idea that he was passing on the disease which was autosomal recessive in the dog and in the cases cited in the article only required the donor to pass on the genotypic disease.
4 posted on 05/19/2006 9:08:17 PM PDT by vetvetdoug
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To: Coleus


5 posted on 05/20/2006 6:36:31 PM PDT by SunkenCiv (
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