Sperm donors are routinely screened for more prevalent
  genetic disorders like cystic fibrosis, Tay-Sachs
  disease and sickle cell anemia, but not for rare
  genetic diseases.

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http://depts.washington.edu/registry/

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    MSNBC Home >> Health >> More Health News
  Sperm donor passed rare disease to 5 kids

  Case exposes gap in sperm-bank screening process

  AP Associated Press
  Updated: 6:19 p.m. ET May 19, 2006

  PHILADELPHIA -
  A sperm donor passed an extremely rare
  and dangerous genetic ailment to five children born to
  four couples, doctors reported Friday 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 report in The Journal
  of Pediatrics, a Philadelphia publication.

  Boxer, director of pediatric hematology and oncology at
  the University of Michigan and an expert on the
  disease, would not say where the sperm bank is located,
  or where the donor or the recipients are from.

  "The bottom line is, when you use a sperm donor you
  really don't know what you're getting," Boxer said.

  The researchers did not have any donor sperm to test
  but connected the children's cases to one man because
  they all had the same version of the defective gene and
  because all the couples used the same sperm bank.

  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.

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  American Society of Reproductive Medicine guidelines
  require anonymous sperm donors to provide a full family
  medical history going back at least three generations.
  The guidelines say a complete chromosome screening is
  not required if a proper family history is taken
  concerning potential hereditary disorders.

  "The question is whether a donor would even be aware
  that a great-grandparent had this disease," said Scott
  Brubaker, policy officer for the American Association
  of Tissue Banks, which accredits sperm banks. "Was this
  disease even known about three generations ago?"

  RARE DISEASE

  Sperm donors are routinely screened for more prevalent
  genetic disorders like cystic fibrosis, Tay-Sachs
  disease and sickle cell anemia, but not for rare
  genetic diseases.

  It was not clear whether the sperm donor in this case
  knew he was a carrier. Boxer said the sperm bank
  reported that the donor was healthy.

  The children are doing well through daily injections of
  a drug that helps build up white blood cells and fight
  germs, Boxer said. But they will always have an
  increased risk of leukemia and a 50 percent chance of
  passing the disease to their own children, he said.

  (C) 2006 The Associated Press. All rights reserved. This
  material may not be published, broadcast, rewritten or
  redistributed.

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Rare blood disorder
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Severe congenital neutropenia occurs in about one in 5 million
births. Children with the disease lack the type of white blood
cells that kill bacteria.

Functions of blood cells
Cells form in bone marrow of flat bones (breastbone pelvis)
Platelets (clotting)
Red blood cells (oxygen)
White blood cells (fight infections)

Levels of neutropenia
7,000 white blood cells per mm
     Range of healthy adult
1,500
1,000 Mild neutropenia
 500 Moderate
   0 Severe
Source: Severe Chronic Neutropenia international Registry  AP
http://depts.washington.edu/registry/
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