The only information I found that could be useful is...
IVF Team Helps Family Beat Beta Thalassemia
Ileana Martinez knew that if she got pregnant, her child would have only a one in four chance of being healthy and free of beta thalassemia, a life-threatening anemia that her other two children suffer from. But those chances weren’t good enough for Martinez, whose children need monthly blood transfusions to treat the disease.
That’s why she turned to Antonio Gargiulo, MD, and the IVF clinic at BWH for help. “I want my children to be healthy,” said Martinez, who came to Boston from Cuba in 1998 with her husband, son and daughter.
That wish partly came true eight months ago when she delivered Abimael, a healthy baby boy who will be able to help ease his 11-year-old sister’s suffering, thanks to preimplantation genetic diagnosis (PGD) at BWH.
Martinez and her husband are carriers of beta thalassemia, as they each have one affected gene and one normal gene. “Genetically, there is a one in four chance that their child will have the disease,” explained Gargiulo. “There’s one chance in four that a child could be completely healthy, and one chance in two that a child would be a carrier.”
It is not uncommon for PGD to be performed to avoid disease, but it is much more complex to have to look for additional genetic markers.
Through PGD, Gargiulo and his team were able to both genetically analyze embryonic cells to ensure the baby would be free of beta thalassemia and also that the baby was an HLA (human leukocyte antigen) match for one of its siblings. That means the baby can donate bone marrow to his sister, a preferred treatment for beta thalassemia because it offers long-term control of the disease, unlike the monthly blood transfusions she receives.
“Previously, no one in the family was HLA compatible with either of the children, so bone marrow transplant was not an option,” Gargiulo said.
Now it is, thanks to the IVF clinic. This PGD for HLA-matched beta thalassemia screening was the first of its kind at BWH, and the Martinez family is thrilled. Abimael will be able to donate stem cells via bone marrow transplant to his sister next month.
“Abimael’s birth represents an exceptional achievement for our team. It epitomizes the high degree of organizational and technical abilities of our clinical and laboratory personnel who continue to push the envelope to build healthy families in Boston and around the world,” said Gargiulo, adding that Ms. Martinez hopes to undergo IVF again and have another healthy baby who is a match for her son.