Abstract
Hemophilia A and B are the most common hereditary hemorrhagic disorders, with an X-linked mode of inheritance. Reproductive options for the families affected with hemophilia, aiming at the prevention of the birth of children with severe coagulation disorders, include preimplantation genetic diagnosis (PGD). Here we present the results of our PGD Program applied to hemophilia, at the Department of Genetics, Reproduction and Fetal Medicine of the University Hospital Virgen del Rocío in Seville. A total of 34 couples have been included in our program since 2005 (30 for hemophilia A and 4 for hemophilia B). Overall, 60 cycles were performed, providing a total of 508 embryos. The overall percentage of transfers per cycle was 81.7% and the live birth rate per cycle ranged from 10.3 to 24.1% depending on the methodological approach applied. Although PGD for hemophilia can be focused on gender selection of female embryos, our results demonstrate that methodological approaches that allow the diagnosis of the hemophilia status of every embryo have notorious advantages. Our PGD Program resulted in the birth of 12 healthy babies for 10 out of the 34 couples (29.4%), constituting a relevant achievement for the Spanish Public Health System within the field of haematological disorders.
Highlights
Hemophilia A and B (OMIM #306700 and #306900), inherited as X-linked recessive traits, are the most common hereditary hemorrhagic disorders caused by a deficiency or dysfunction of blood coagulation factor VIII (FVIII) and factor IX (FIX)
At the start of the preimplantation genetic diagnosis (PGD) Program, two cells were taken from each embryo in order to verify the results, but once we experienced that a conclusive and reliable diagnosis for the embryos could be obtained on the basis of one cell, we limited the cells taken from each embryo to one
Among the 105 informative embryos, a total of 21 (20%) were reported to have any kind of chromosomal anomaly detected by Fluorescent In Situ Hybridization (FISH) or to present inconclusive results regarding their status for chromosomes 13, 18, and 21, and they were discarded for further transfer
Summary
Hemophilia A and B (OMIM #306700 and #306900), inherited as X-linked recessive traits, are the most common hereditary hemorrhagic disorders caused by a deficiency or dysfunction of blood coagulation factor VIII (FVIII) and factor IX (FIX). These diseases have an incidence of 1 in 5000 and 1 in 25000 male births, respectively, and no ethnic or geographical predisposition has been described. Both types of hemophilia, clinically indistinguishable, are characterized by deficiency in FVIII or FIX clotting activity that results in prolonged oozing after injuries or surgery and delayed or recurrent bleeding prior to complete wound healing. Prior to the availability of such treatment, the median life expectancy for individuals with severe hemophilia A was 11 years, while new life expectancy for those severely affected individuals receiving adequate treatment is 63 years [2]
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