Primary Keywords (H1)
HLA testing can also be performed during PGD for patients looking to have a child who could provide a life saving bone marrow match for a sibling. HLA testing can be performed while testing for a specific genetic condition, such as beta-thalassemia or Fanconi anemia.
Allogeneic hematopoietic stem cell (HSC) transplantation can sometimes be the only curative option for severe cases of blood disorders, including ß-thalassemia, sickle cell disease, Fanconi anemia, and Hyper IgM. The best possibilities of cure are provided by transplantation from HLA-identical sibling donors. Unfortunately, this ideal strategy cannot be used in the majority of cases because of the difficulty to find HLA-matched donors, even among family members. Without screening, there is only a 25% chance that a future sibling could be a complete HLA match to their affected brother or sister.
If IVF along with PGD for HLA matching is pursued, umbilical cord blood is obtained at the time of delivery from the newborn and used for HSC transplantation.