First patient cured of rare blood disorder

Washington: In a first, doctors in the US claim to have successfully cured an adult patient with a rare blood disorder in which the body does not produce enough red blood cells, causing progressive organ damage and early death.

Physicians employed a technique that avoids the use of high-dose chemotherapy and radiation in preparation for a stem cell transplant to cure the patient with congenital dyserythropoietic anemia (CDA). The transplant technique is unique, because it allows a donor's cells to gradually take over a patient's bone marrow without using toxic agents to eliminate a patient's cells prior to the transplant, researchers said.

Damiano Rondelli, Professor at the University of Illinois at Chicago in US, said the protocol can be used even in patients with a long history of disease and some organ damage because of the minimal use of chemotherapy."For many adult patients with a blood disorder, treatment options have been limited because they are often not sick enough to qualify for a risky procedure, or they are too sick to tolerate the toxic drugs used alongside a standard transplant," said Rondelli.

"This procedure gives some adults the option of a stem cell transplant which was not previously available," Rondelli said.For more than 30 years, David Levy's only course of treatment for CDA was regular blood transfusions to ensure his organs and tissues received enough oxygen. Levy, from Northbrook, Illinois, was 24 when the pain became so severe he had to withdraw from graduate school. By age 32, Levy required transfusions every two to three weeks; had lost his spleen; had an enlarged liver; and was suffering severely from fatigue, heart palpitations and iron poisoning, a side effect of regular blood transfusions.

Rondelli said that because of Levy's range of illnesses and inability to tolerate chemotherapy and radiation, several institutions had denied him the possibility of a stem cell transplant. Rondelli performed Levy's transplant in 2014. "The transplant was hard, and I had some complications, but I am back to normal now," said Levy, now 35.

"I still have some pain and some lingering issues from the years my condition was not properly managed, but I can be independent now. That is the most important thing to me," he said.Rondelli said the potential of this approach to stem cell transplantation is very promising.

"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," Rondelli added.The case report was published in the journal Bone Marrow Transplantation.