A person born with one abnormal copy of the gene for the oxygen-carrying protein in red blood cells, known as sickle cell trait, does not have sickle cell disease but is two times more likely to develop kidney failure requiring dialysis, according to a new study from the UAB REasons for Geographic and Racial Differences in Stroke (REGARDS) cohort. These study findings may have important public policy implications for genetic counseling for individuals with sickle cell trait.
[Photo: Dr. Marguerite Irvin]
A team led by Dr. Marguerite Irvin, assistant professor in the UAB School of Public Health Department of Epidemiology, and Dr. Rakhi Naik, assistant professor at Johns Hopkins University, investigated these associations by using data from REGARDS, a large population-based study.
“REGARDS had a general-population-based sample of African-American participants large enough to determine the relationship of SCT with kidney failure, an outcome difficult to assess using other existing cohort studies,” Dr. Irvin said. “This study suggests it may be clinically useful to screen for SCT in families with a history of sickle cell disease to monitor more carefully for chronic kidney disease and its progression to end-stage renal disease.”
The researchers evaluated 9,909 Blacks, of whom 739 had SCT and 243 had hemoglobin C trait.
Among the findings:
The investigators noted that SCT is currently identified at birth in the United States via the Newborn Screening Program.
“Although you cannot change the genes you are born with, doctors can use this information to start screening for kidney disease earlier and to aggressively treat any other risk factors you may have, such as diabetes or high blood pressure,” Dr. Naik said. “We still need more studies to determine if there are other treatments that can be used to slow the progression of kidney disease specifically in individuals with sickle cell trait.”
Study co-authors include Dr. Suzanne Judd, Dr. Orlando Gutiérrez, Dr. Neil Zakai, Dr. Vimal Derebail, Dr. Carmen Peralta, Dr. Michael Lewis, Dr. Degui Zhi, Dr. Donna Arnett, Dr. William McClellan, Dr. James Wilson, Dr. Alexander Reiner, Dr. Jeffrey Kopp, Dr. Cheryl Winkler, Dr. Mary Cushman.