At the end of February 2022, two life-changing events came to a young family almost simultaneously. While the new parents joyfully welcomed their newborn daughter—nicknamed “Little Youzi” (pseudonym)—they were immediately confronted with heartbreaking news. From birth, Little Youzi appeared extremely pale. Repeated blood tests over several days showed persistent abnormalities, and doctors suspected an anemic disorder.

After a series of genetic tests and bone marrow examinations, she was ultimately diagnosed with congenital pure red cell aplasia, Diamond-Blackfan Anemia (DBA)—a rare hereditary disorder of childhood characterized by failure of erythropoiesis, where the bone marrow cannot produce enough red blood cells to support normal growth and development.

Initial treatment with corticosteroids yielded poor results, and Little Youzi began regular blood transfusions. While transfusions could temporarily sustain her, they did not improve her condition. Her growth and development lagged significantly behind her peers, causing her parents deep concern.

In April 2024, the family sought help from Professor Chunfu Li, a renowned pediatric hematopoietic stem cell transplantation (HSCT) expert, had successfully treated multiple cases of DBA with transplantation. After thorough evaluation, Little Youzi underwent TDH transplantation—a haploidentical allogeneic HSCT with T-cell depletion (ex vivo T-cell removal). This strategy not only addressed the lack of a fully matched donor but also reduced the risk of graft rejection.

Although she experienced adenovirus infection and gastrointestinal complications post-transplant, the medical team’s expertise and attentive care guided her through the critical period. Gradually, her laboratory indices normalized, and she was discharged in stable condition. This milestone signified that her once “paralyzed red cell factory” had successfully restarted, enabling her to produce healthy red blood cells independently and freeing her from lifelong dependence on transfusions—marking a victorious battle for survival.

Case Summary – Little Youzi (3 years old)

Diagnosis: Congenital pure red cell aplasia – Diamond-Blackfan Anemia (DBA)

l  2022: Diagnosed with DBA at 3 months of age; initiated steroid therapy and regular blood transfusions.

l  April 2024: First consultation at Chunfu Research Institute; pre-transplant evaluation completed.

l  June 2024: Admitted for transplantation; underwent TDH haploidentical allogeneic HSCT with ex vivo T-cell depletion.

l  August 2024: Discharged post-transplant; continued outpatient follow-up.

l  Now: One year post-transplant, recovering well and living at home.