First in-utero Stem Cell Transplant for Thalassemia

Inside the womb, stem cell transplant of Elianna Constantino took place at UC San Francisco. It was the first in-utero stem cell transplant for thalassemia, in an infant patient born following world’s first clinical trial before birth. Doctors used stem cells obtained from the bone marrow of mother. As she had the transplant from her mother, there was not immune system rejection.

After receiving an in utero stem cell transplant to treat a lethal form of thalassemia.
Newborn, Elainna with her parents at UCSF.

She suffered from alpha thalassemia, a lethal form that is a genetic disorder. Almost 5% of world’s populations carry this gene. This disease is most common in people from China, the Philippines, Thailand, India and the Middle East. Parts of globe where American especially those in the San Francisco Bay Area, claim their ancestry. It reduces the ability of blood to carry oxygen to vital organs. As a result, most babies with this condition die before they are born.

Dr. Tippi Mackenzi, a pediatric and fetal surgeon at UCSF Benioff Children’s Hospital San Francisco, believes that it is too early to say if it will save her life. However she tolerated the treatment and was born healthy on 1st of Feb. This gave hope for other in-utero treatments. Accordingly, he said in a statement, “Her healthy birth suggests that fetal therapy is a viable option to offer to families with this diagnosis.”


Tests can be conducted for fetuses suffering from sickle cell anemia, hemophilia and other hereditary blood disorders, in future. Progressive anemia and heart failure develop before birth. Therefore, delay of treatment may cause body deformation. Lifelong blood transfusion is required, starting for 2nd trimester till birth and a bone marrow transplant in childhood.

The success of this procedure depends on the fetus’s immune system. As it is under developing, it can accept mother’s cells during pregnancy and not reject it. Such transplant require aggressive immune-suppressant treatment after the birth. In some cases, stem cell transplants in children are successful from match donor. However, patient have to face risk in case of graft-versus-host disease and some serious side effects from immune-suppression drugs.

Stem Cell Transplant for Thalassemia

Nichelle Obar, 40, and Chris Constantino, 37, the parents did not know that they are carriers of thalassemia. They had a healthy 3 years old first child. An ultrasound, conducted at a medical center near their hometown identified an enlarge heart .This resulted due to severe anemia and lack of oxygen, a sign of alpha thalassemia. At that time Nichelle was 21 weeks pregnant and her baby was in worse condition. Doctors instantly gave Elianna a transfusion which improved her health.

Cells derived from the bone marrow of mother, were processed and hematopoietic cells were isolated from the mix. Then injected into the umbilical vein of Elianna through her mothers abdomen. They then started flowing in the blood stream and maturing into healthy blood cells. Elianna weight almost under 5 pounds and was born at 37 weeks pregnancy and discharged later.

UCSF Benioff Children’s Hospitals in San Francisco and Oakland is using this procedure, in-utero stem cell transplant is a part of clinical study. Ten pregnant women are in the first phase of clinical trial to treat fetuses with this genetic disorder.