Stem Cell Transplant Cures First Adult Patient of Rare Blood Disorder

This is the first successful non-myeloablative allogeneic hematopoietic stem cell transplant for this rare condition
This is the first successful non-myeloablative allogeneic hematopoietic stem cell transplant for this rare condition

The first adult patient has been cured of congenital dyserythropoietic anemia (CDA) by non-myeloablative allogeneic hematopoietic stem cell transplant (allo-HSCT), avoiding the use of high-dose chemotherapy and radiation. 

After being diagnosed with CDA Type III as an infant, the patient required 3 to 4 blood transfusions per year and underwent splenectomy due to splenomegaly when he was a child. At 24, his transfusion requirements increased to every 4 weeks and he developed hepatomegaly with iron overload requiring iron chelation therapy. When he was 32, the patient presented with severe anemia for which he needed transfusions every 2–3 weeks to maintain hemoglobin level at 10g/dL. 

He underwent a non-myeloablative (NMA) peripheral blood stem cell transplant from a 10/10 HLA Ag matched, ABO incompatible unrelated donor. This technique allows the donor's cells to gradually take over a patient's bone marrow without using toxic agents to eliminate a patient's cells prior to transplant. 

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“The use of this transplant protocol may represent a safe therapeutic strategy to treat adult patients with many types of congenital anemias — perhaps the only possible cure,” said Dr. Damiano Rondelli, Professor of Hematology at the University of Illinois at Chicago, who conducted the transplant.

Twenty-four months after the transplant, the patient's hemoglobin was 13.7g/dL and ferritin was 376ng/mL with no iron chelation. Immunosuppressive therapy was tapered at 12 months with no signs of acute or chronic graft-versus-host disease.

CDA is a very rare hereditary disease with just 12 previous cases of pediatric allo-HSCT reported, with each one utilizing a myeloablative conditioning regimen. Although complications were not reported in all case reports, two children had GvHD and one died after transplant. 

For more information visit Nature.com.