Sickle cell disease is a group of blood cell disorders in which cells become contorted into a flat, sickle-like shape due to the altering of hemoglobin production in the cell. It is genetic, and can be caused only if both parents have the sickle cell gene. These cells cannot carry out the duty a regular red blood cell can, and can cause blockages, a lack of energy, and sudden severe pain, amongst other things.
A study by JAMA Network Open investigated 2264 people ages 15 to 45. These emotional and stress-related effects of the disease may impact daily QoL and frequency and severity of pain.21 Mental health is related to opioid use for SCD-related pain and can be seen in stress and negative coping behaviors experienced by individuals with SCD.22 Rates of depression among individuals with SCD are approximately 3 times higher than those among the general population (26.0% vs 9.5%),23,24 with depressive symptoms impacting pain frequency, health care utilization, health care–related QoL (HRQoL) and stigma (both depression-related and SCD-related stigma). Individuals with SCD, especially young adults, experience greater risk for health-related stigma.25,26 Stigma (both perceived and internalized) is associated with disease-related complications of SCD, including pain and health care utilization (ie, frequent emergency department visits and hospitalizations). Specifically, stigma is associated with higher patient-reported disease severity and pain, higher health care utilization, lower QoL, loneliness, and less pain reduction as a result of hospital treatment. SCD-related stigma also has social consequences, including impacts on psychological well-being (including anxiety and depression) or exacerbated pain (perhaps as a result of poor management), and can create challenges in patient-physician relationships.26 Sickle cell disease (SCD) is a chronic hemolytic anemia that causes organ damage and disproportionately affects individuals of African descent. Frequent acute vaso-occlusive crises (VOCs) result in chronic inflammation and can lead to acute chest syndrome, severe anemia, and end-organ damage.2-4 Chronic organ dysfunction is often progressive and experienced by most individuals with SCD at some point throughout the life course.5-8 Complications of SCD can affect educational outcomes and life opportunity for those affected. Cognitive deficits are common and lead to youth with SCD having a lower and often declining intelligence quotient. Lower academic performance, lower test scores, and grade failure are also associated with cognitive deficits. Poor educational outcomes increase students’ risk of dropping out of high school, which, in turn, leads to lower earning potential in adulthood, higher unemployment and incarceration rates, higher poverty, and, ultimately, early death.
A total of 2264 participants from all 8 consortium sites were included in this analysis (Table 1). The mean (SD) participant age was 27.9 (7.9) years (range, 15-45 years); however, nearly 70% of the sample (1541 participants) were aged 18 to 34 years, and less than 10% (209 participants) were younger than 18 years. More than one-half of the sample identified as female (1272 participants [56.2%]), 43.8% (992 participants) identified as male, and 95.5% (2112 participants) identified as Black. Seventy-two percent (1633 participants) had a diagnosis of sickle cell anemia (SCA) which includes the 2 most severe genotypes of SCD (1545 patients [68.3%] with hemoglobin [Hb] SS, the most severe form of SCD, and 88 patients [3.9%] with HbSβ0 thalassemia). More than one-half of the participants (1733 participants [78.0%]) reported their highest level of education as a high school diploma or lower. Most were unemployed (1408 participants [63.9%]), although 513 (23.3%) of those who were not employed reported being not employed by choice, and 1083 participants (54.0%) reported an average annual household income less than $25 000.
Blood test and genetic tests
If you do not know whether you make sickle hemoglobin, you can find out by having your blood tested. You may also have a genetic test performed on your blood. This way, you can learn whether you carry a gene — or have the trait — for sickle hemoglobin that you could pass on to a child.
Genetic testing can help determine which type of sickle cell disease you have or can help confirm a diagnosis if results from blood tests are not clear. Genetic testing can also tell whether you have one or two copies of the sickle hemoglobin gene.
Prenatal screening
Healthcare providers can also diagnose sickle cell disease before a baby is born. This is done using either a sample of amniotic fluid, the liquid in the sac surrounding a growing embryo, or a sample of tissue taken from the placenta, the organ that attaches the umbilical cord to the womb. Testing before birth can be done as early as 8 to 10 weeks into the pregnancy. This testing looks for the sickle hemoglobin gene rather than the abnormal hemoglobin itself. This testing cannot predict the severity of the disease.
Newborn screening In newborn screening programs, drops of blood from a heel prick are collected on a special type of paper. The hemoglobin from this blood is then tested in a lab. Newborn screening results are sent to the provider who ordered the test and to your child’s healthcare provider. Providers from a special follow-up newborn screening team will contact you directly if your child has sickle cell disease. Your child’s providers will then retest your child to make sure the diagnosis is correct.
Newborn screening programs also find out whether your baby has the sickle cell trait and is a carrier. If this is the case, counseling will be offered. Remember that when a child has sickle cell traitexternal link or sickle cell disease, their future siblings or your child’s future children may be at risk.