Many adults who carry the genes that can cause sickle-cell disease, the painful and potentially deadly blood disease, aren’t even aware that they are carriers.
That’s why advocates are pushing a bill, A-3356, that would create a state registry of people with both sickle-cell disease and sickle-cell trait, and require the state to inform parents of children in both categories of the child’s sickle-cell status, once in early adolescence and again in late adolescence.
Sickle-cell disease is the most common inherited blood disease in the United States. It is most prevalent in this country among African- Americans, with roughly 1 in 500 having the disease and 1 in 12 having sickle-cell trait.
The disease encompasses a group of disorders that affect hemoglobin, which is the molecule in red blood cells that delivers oxygen throughout the body.
Typically, people with the disease have hemoglobin molecules shaped like a sickle, or crescent, which break down prematurely and can lead to anemia, or low red-blood-cell counts.
The disease also can lead to repeated infections and periodic intense pain. Sickled red blood cells can become stuck in blood vessels, potentially depriving tissues and organs of oxygen and leading to damage in the lungs, kidneys, spleen and brain.
Newborns are screened for sickle-cell disease and trait, which generally leads to treatment. But many parents either don’t tell their children that they are carriers of the trait or don’t emphasize the significance of having the trait, according to Mary Bentley LaMar, founder and executive director of the Sickle Cell Association of New Jersey.
That’s important because if a person with the trait has a child with another trait carrier, there is a roughly 25 percent chance that the child will have the disease and an additional 50 percent chance that the child will carry the trait.
From January 2007 to January 2009, 116 New Jersey babies with sickle-cell disease were found through newborn screening, and more than 7,000 state residents with the trait were identified. There are roughly 5,000 people in New Jersey with the disease, according to the association. The association didn’t provide an estimate of the number who have the trait.
The bill would require that parents of a child with the disease or trait be offered genetic counseling to let them know the risk that future children might have for the disease or trait. The registry also would be used to compile statistical information.
In addition, the bill would require the state Department of Health to notify the parents of children who carry sickle-cell trait once in early adolescence, when the children may start playing sports, and again in late adolescence, so the teenager is aware of the reproductive implications of sickle-cell trait.
The bill also would require the state to “make reasonable efforts” to notify carriers older than 18 of their status and inform them of genetic counseling and other resources that might benefit them.
“It will support better health outcomes for families affected by sickle cell disease,” said LaMar, who said she has family members who have the disease and the trait.
Assemblywoman Nancy F. Munoz (R-Morris, Somerset and Union) raised concerns about the multiple levels of notification, saying that they could become burdensome for the state.
“I’m a nurse, so I understand sickle-cell disease, but this number of times they have to be notified – I’m concerned about that,” Munoz said. She voted to release the bill from the Assembly Health and Senior Services Committee, but said she wanted to put her concerns on the record.
The notifications could have important implications for family planning. For example, couples could choose to use contraceptives or pursue in-vitro fertilization if they are both carriers.
“It’s a devastating blood disorder and it could set someone up for a lifetime of complications and organ damage,” said LaMar, emphasizing that each case is different, as some people with the disease don’t experience severe symptoms, while others have life-threatening complications.
LaMar added that if the bill is enacted, she wants patients and advocates to participate in planning its implementation.
The Assembly Health and Senior Services Committee released the bill earlier this month by a 9-0 vote – the committee chairman, Assemblyman Herb Conaway Jr. (D-Burlington), is the bill’s first primary sponsor. A Senate version of the bill hasn’t been introduced yet, but LaMar hopes one will be soon.