Alpha thalassemia major is, by any measure, a devastating disease. Caused by four missing or mutated genes, it almost always leads to death before or shortly after birth. Treatment options have been limited, and for years many parents were told to prepare for the worst.

New hope

Now, however, new approaches—including one supported by CIRM—are giving these children a chance at survival and a more normal life.

Thalassemias are blood disorders that affect how the body makes hemoglobin, which carries oxygen. In alpha thalassemia major, the lack of alpha globin is the core problem. Current treatment requires blood transfusions while the fetus is still in the womb and monthly transfusions for life after birth, or a bone marrow transplant if a suitable donor is available.

Clinical trial

A clinical trial led by Dr. Tippi MacKenzie at UCSF— funded by CIRM—uses a different strategy. The team harvests stem cells from the mother’s bone marrow and infuses them into the fetus. If the baby’s bone marrow accepts these cells, they can mature into healthy blood cells. The hope is that one day this method will allow babies to be born with healthy blood and avoid lifelong transfusions.

UCSF’s short film Surviving with Joy follows families living this reality. It highlights the power of modern medicine—and the courage and persistence of parents who refuse to give up on their child.

Tissues are optional, but advised.