Baby Elianna Constantino has made history. The world’s first in utero stem cell transplant trial has reported the birth of a baby with alpha thalassemia after giving the fetus a blood transfusion enriched with the mother’s blood stem cells. Elianna was born to Nichelle Obar and Chris Constantino in February. The couple, who are from Hawaii, are both carriers of alpha thalassemia, and their fetus was critically ill during the second trimester. But researchers at UC San Francisco and UCSF Benioff Children’s Hospital Oakland are conducting an early-stage trial that aims to help babies with alpha thalassemia using their mothers’ stem cells.
Blood transfusions during pregnancy are an accepted treatment for fetuses diagnosed with alpha thalassemia major, a condition that causes severe anemia, lack of oxygen, and swelling (hydrops) as the fetus develops. Few babies with alpha thalassemia major survive to term without treatment. People whose ancestry is from east Asia, southeast Asia, and the Middle East are more likely to carry the gene for alpha thalassemia, and carriers typically are unaware of their status unless they and another carrier have a baby together that is diagnosed with the disease.
The UCSF team conducting this trial is led by Dr. Tippi MacKenzie and funded by the California Institute for Regenerative Medicine. While this initial trial is only intended to show the safety of the maternal stem cell infusion technique, the improved health of baby Elianna has also shown that this method shows promise for babies with alpha thalassemia and, potentially, many other genetic disorders.
Prenatal Information Research Consortium 