Surviving with Joy

An alpha thalassemia major diagnosis was once considered a fatal condition. Now, thanks to clinical advances in fetal therapy at UCSF Benioff Children's Hospitals, young patients can survive and thrive. Meet five families benefiting from this pioneering care.

No pregnant woman wants to hear that her developing baby has a life-threatening genetic disease. Historically, women carrying babies with alpha thalassemia major, a type of hereditary anemia, faced the difficult choice between ending a pregnancy or continuing despite nearly assured fetal death.  

Now, pediatric and fetal surgeon Tippi MacKenzie, MD and her team at the UCSF Fetal Treatment Center have developed another option: in utero blood transfusion. In this procedure, healthy red blood cells are infused into the fetus, which can reverse the effects of this condition and increase the chance of survival.  

This groundbreaking research gained worldwide recognition in the fall of 2017, when Dr. MacKenzie launched the first clinical trial of an in-utero stem cell transplant therapy. Her first patient, baby Elianna, was born just four months later. 

Elianna's birth came after a second-trimester diagnosis of this normally fatal blood disorder. Her story further hints at the lifesaving possibilities of fetal therapy for families who face similarly devastating diagnoses. 

Dr. MacKenzie’s ultimate goal is to stop disease before it starts – in the womb.