September is National Sickle Cell Awareness Month, when people direct their attention to sickle cell disease (SCD), an inherited genetic disease that researchers estimate affects up to 100,000 Americans. The term sickle cell disease (SCD) describes a group of inherited red blood cell disorders that can cause a range of health concerns, from fatigue and irritability to early death.People with SCD have abnormal hemoglobin, called hemoglobin S or sickle hemoglobin, in their red blood cells. Hemoglobin is a protein in red blood cells that carries oxygen throughout the body.SCD is an inherited disease. People who have SCD inherit two abnormal hemoglobin genes, one from each parent. In all forms of SCD, at least one of the two abnormal genes causes a person’s body to make hemoglobin S. When a person has two hemoglobin S genes, Hemoglobin SS, the disease is called sickle cell anemia. This is the most common and often most severe kind of SCD.In the United States, most people with sickle cell disease (SCD) are of African ancestry or identify themselves as black. However people of other races can be a “carrier” of an abnormal hemoglobin gene. According to the National Institutes of Health, “There are also many people with this disease who come from Hispanic, southern European, Middle Eastern or Asian Indian backgrounds.”Moreover, it may not always be possible to identify one’s ethnicity reliably. A recent Pew Research study found that 17 percent of newly married people in 2015 chose partners from a different race or ethnicity. Guidelines issued in March 2017 by American College of Obstetricians and Gynecologists (ACOG) recognizes the changing socio-demographic factors in America, recommending that physicians consider offering genetic screening for patients regardless of known ethnicity. Traditionally, genetic screening has been used with at-risk populations based on ethnicity, focusing on only one or two of the most likely disorders.It’s important to know your family history and genetics to reduce risk of passing on genetic variants including those for sickle cell disease to your offspring. People of any race who are thinking about starting a family now have a new option to determine whether or not they are carriers of abnormal hemoglobin genes.
QHerit™ Expanded Carrier Screening from Quest Diagnostics is a pan-ethnic panel of tests that harness the power of next-generation sequencing to scan a person’s genes to identify mutations recommended by ACOG guidelines and advocacy groups – including mutations that cause SCD. Genetic carrier screening provides a better understanding of the likelihood and potential impact of inherited genetic disorders. Screening typically involves having a physician order a blood test of the woman in a couple; if mutations are found, the man in the couple may also be tested. Today, physicians may consider making this screening option available to all of their patients, so that insights from genetic screening can inspire actions leading to healthier families.
