Woman Eradicates Hemophilia From Family Gene Pool

Jennifer Lester was a happily married and healthy 29-year old woman living in Aurora, Illinois with her husband Brian. Jennifer and Brian felt that it was time to start a family, yet they were rightfully hesitant, as J
Jennifer Lester was a happily married and healthy 29-year old woman living in Aurora, Illinois with her husband Brian. Jennifer and Brian felt that it was time to start a family, yet they were rightfully hesitant, as Jennifer's father has Hemophilia B, an inherited disease that prevents blood from clotting properly. Hemophilia B is found almost exclusively in males, occurring in about 1 in 34,000 men. There is no cure for Hemophilia B and those diagnosed are prone to needing blood transfusions which carry of risk of containing viral infections including hepatitis and HIV. A sex-linked disorder
Hemophilia B is a sex-linked disorder, meaning that it is passed along on the X chromosome. It is caused by a mutation in a single gene that makes an essential blood clotting protein called Factor 9. Most cases of hemophilia are transmitted through families with a known history of the disease. Through blood work taken from Jennifer, it was determined that she was a carrier of Hemophilia B. If Jennifer and Brian were to conceive a baby boy, he might very well be born with the disease. If a baby girl was conceived, she has a great chance of being a carrier of Hemophilia B and one day passing it on to her children. In order to avert this disease from wreaking havoc on new members of the family, Jennifer and Brian sought the help of Dr Randy Morris, Chicago-based reproductive endocrinologist and fertility expert, to ensure a healthy baby and eradicate Hemophilia B from their gene pool forever.

Dr Morris has been at the forefront of a landmark procedure called PGD (Pre-Implantation Genetic Diagnosis) that tests embryos for abnormalities before they are placed in the womb. PGD is a technique that permits analysis of the genetics of an embryo prior to transferring embryos to a woman undergoing in vitro fertilization (IVF). As Dr Morris explains, "its primary use is to permit the selection of chromosomally normal embryos along with testing for other common genetic abnormalities leading to diseases such as Hemophilia B, Cystic Fibrosis, Tay Sachs Disease, Muscular Dystrophy and many others."

Dr Morris used a four-step procedure in the Lester's case. First, her father's exact mutation was identified. Next, Jennifer was tested to verify that she had the mutation. A probe was then made that would identify the mutation in embryos, and finally Jennifer underwent an IVF cycle. Dr Morris found two embryos that did not contain the mutation, and implanted them into Jennifer's uterus. Today, Jennifer is pregnant with one baby that is due on Valentine's Day of 2004. Jennifer and Brian also chose to freeze two additional embryos that do not have the mutation that they can use down the line to conceive a brother or sister for their new baby.

"Most people associate IVF and fertility treatments with couples that are infertile or have trouble conceiving," states Dr Morris. "PGD is a medical advance that highlights how doctors are pushing the envelope of fertility treatments. Just producing a pregnancy for a couple isn't good enough anymore. Couples are looking for ways to ensure that they have a healthy baby." PregnancyAndBaby.com

Tags: genes


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