In sickle cell disease, the body makes a form of adult hemoglobin that can aggregate to cause red blood cells to become C-shaped or "sickle" shaped, and stiff and sticky. Those cells clog small blood vessels in the limbs and internal organs, causing organ damage, pain, and raising the risk of infection. Life expectancy in these patients is greatly shortened.
In a very small number of sickle cell patients, the 'fetal' form of hemoglobin which is usually only made in the womb and the first couple of months of life keeps being produced throughout life. These patients have symptoms that are either far less severe or nonexistent.
The most common current sickle cell treatment, oral hydroxyurea, aims to boost fetal hemoglobin production. Others, including transfusions and stem cell (bone marrow) transplants from unrelated donors, aim to exchange the source of the overall red blood cell supply.
More study needed
Andrew Campbell, M.D., who directs the Pediatric Comprehensive Sickle Cell program at U-M's C.S. Mott Children's Hospital and has worked with Engel on previous research, finds the new findings are very exciting news for sickle cell patients, since there are not enough treatment options. But, he notes, more clinical research is needed to determine if the findings from mice and cultured human red cell precursors will translate to humans for TCP or even other drugs that inactivate LSD1.
The first such clinical trial is now being planned with the sickle cell team at Wayne State University in Detroit. Further information will be available later this yea
|Contact: Kara Gavin|
University of Michigan Health System