About Sickle Cell Disease

What is Sickle Cell Disease?

According to the Centers for Disease Control and Prevention, sickle cell disease (SCD) is a group of inherited red blood cell disorders. It is a genetic condition, meaning it is present at birth and usually detected during the routine newborn screening. Early diagnosis and treatment are important because of increased risk of infection and other health problems.

Red blood cells contain hemoglobin, a protein that carries oxygen. Healthy red blood cells are round, and they move through small blood vessels to carry oxygen to all parts of the body. In someone who has sickle cell disease, the hemoglobin is abnormal, which causes the red blood cells to become hard and sticky and look like a C-shaped farm tool called a “sickle.” The sickle-shaped cells die early, which causes a constant shortage of red blood cells. Also, when they travel through small blood vessels, they get stuck and clog the blood flow.

 

Living with Sickle Cell Disease

Individuals living with sickle cell disease experience serious health complications, worse health outcomes and have access to fewer resources. Historically, funding, research, social services and other resources have not been prioritized for this condition. Each person with the disease can experience different symptoms and complications ranging from mild to severe. Symptoms and health effects usually begin around 5 months of age.

Common health complications with sickle cell disease include:

Due to the varied health complications as a result of the disease, people living with sickle cell disease experience a shorter life expectancy, have the highest rate of returning to the hospital within 30 days of being discharged, experience a higher rate of stroke and may experience longer wait times to see a doctor and get pain medication due to a presenting complaint being initially assigned to a non-emergent condition. Further, most patients with sickle cell disease nationally are enrolled in Medicaid, and a limited number of clinicians are trained to treat patients with sickle cell disease, so obtaining high-quality healthcare services can be a significant challenge. Medical providers trained in hematology and oncology often train to treat cancers; however, few specialize in blood disorders and even fewer in sickle cell disease.

 

Emergency Treatment for Conditions Related to Sickle Cell Disease

Individuals living with sickle cell disease may need emergency treatment due to the varied health complications as a result of the disease. Most commonly, people living with sickle cell disease need emergency treatment for pain associated with the disease, known as a vaso-occlusive episode. There are guidelines in place regarding the prescription of opioids, which may result in a primary care provider being unable to prescribe certain medications needed for managing vaso-occlusive episodes. This could contribute to the necessity for an emergency room visit or an emergency visit with a specialist for individuals with sickle cell disease. It is important to inform your primary care provider of any visits to the emergency room to come up with a care plan to manage future vaso-occlusive episodes.

 

Tips to Live a Healthy Life with Sickle Cell Disease

People with sickle cell disease can live full lives and enjoy most of the activities that other people do. The following tips will help you, or someone you know with sickle cell disease, stay as healthy as possible.

  • Find good medical care: SCD is a complex disease. Good quality medical care from doctors and nurses who know a lot about the disease can help prevent some serious problems. Often the best choice is a hematologist (a doctor who specializes in blood diseases) working with a team of specialists.
  • Get regular checkups: Regular health checkups with a primary care doctor can help prevent some serious problems.
  • Prevent infections: Common illnesses, like the flu, can quickly become dangerous for a child with sickle cell disease. The best defense is to take simple steps to help prevent infections.
  • Learn healthy habits: Children can, and should, participate in physical activity to help stay healthy. However, it’s important that they don’t overdo it, rest when tired, and drink plenty of water.
  • Look for clinical studies: New clinical research studies are happening all the time to find better treatments and, hopefully, a cure for sickle cell disease. People who participate in these studies might have access to new medicines and treatment options. Patients can ask their physicians about clinical trials or they can go to clinicaltrials.gov or sicklecelldisease.org/sickle-cell-health-and-disease/education-and-research/clinical-trials.
  • Get support: Find a patient support group or community-based organization that can provide information, assistance, and support. For more information about SCD, including diagnosis, complications and treatment, click here.

 

Sickle Cell Disease in Louisiana

Approximately 80 infants are born each year in Louisiana with sickle cell disease. Louisiana Medicaid provides healthcare coverage to approximately 3,000 individuals living with sickle cell disease in the state each year. However, the true number of individuals living with the condition is unknown because there currently is no comprehensive population-level public health monitoring system in the state. 

 

Sickle Cell Disease Policy in Louisiana

Nationally and in Louisiana, sickle cell disease is being recognized as a health issue that is overdue for investment and policy action. In 2020, the National Academies of Sciences, Engineering and Medicine released Addressing Sickle Cell Disease: A Strategic Plan and Blueprint for Action, illuminating systemic factors affecting equitable and effective care, treatment and support for individuals living with sickle cell disease and sickle cell trait(when a person receives only one sickle cell gene from a parent). The report highlighted societal and structural contributors to disease impact, such as lack of public awareness and misinformation. The report also highlighted the need for patient registries and public health monitoring systems as a foundation for improving clinical care and quality of life.

Legislative actions in Louisiana in 2021 and 2022 echoed elements of the calls to action in the national strategic plan, many of which have been championed by the statutorily established Louisiana Sickle Cell Commission and the state’s sickle cell foundations, community-based organizations established to provide supportive services to people living with sickle cell disease.

 

LDH Initiative to Improve Systems to Support People Living With Sickle Cell Disease

The aim of this initiative in the FY23 business plan is to build the foundations for the systems to monitor the health of individuals with SCD and strengthen the ability of our care systems to support every person living with SCD to achieve their fullest health potential. The goal of this initiative is to complete the foundational assessment and engagement activities needed to develop the state sickle cell registry.

In response to Act No. 647 of the 2022 Regular Session of the Louisiana Legislature, the Louisiana Department of Health, Office of Public Health, Bureau of Family Health has been charged to develop the Louisiana Sickle Cell Disease (SCD) Registry, known as the Skylar-Cooper Database. As a first step, the SCD registry steering committee conducted a foundational assessment and provided preliminary recommendations to guide the development of the registry. The report may be found below: 

As a second step, a public input survey was posted to the BFH website to allow for feedback on the preliminary report and recommendations. The report below provides an overview of the survey responses and outlines the next steps in the development of the sickle cell registry. Please click the link below to view the report:

 

Sickle Cell Disease Program

The Sickle Cell Program works to help diagnose and treat sickle cell disease in babies as early as possible. They connect people diagnosed with sickle cell to resources, medical care and other services through the Sickle Cell Foundations and Clinics around the state. 

This program also oversees the Louisiana Sickle Cell Commission, which is mandated by Act 117 (SB57) of the Louisiana State Legislature. Click here to find information on the Louisiana Sickle Cell Commission, including meeting dates, agendas and minutes. For the most recent commission report, including information on current appointments, click here. 

Find the latest report here.

 

Resource for Healthcare Providers

The Louisiana Standard for Care of Patients with Sickle Cell Disease serves as a best practices guide for treating patients with sickle cell disease. It was developed by Renee Gardner, MD, a pediatric hematologist with LSU Health Sciences Center in New Orleans and the Louisiana Sickle Cell Commission. The goal of the toolkit is to increase and improve access to reduce acute pain and improve chronic pain management. The toolkit is distributed to pediatricians, family practitioners and other primary care providers to follow as best practices for treating patients with sickle cell disease.  

In addition, emergency providers can use the Sickle Cell Disease pain management toolkit. This toolkit provides information about sickle cell disease and recommendations for emergency department providers. Pain is the most common complication of sickle cell disease and the top reason people with sickle cell disease go to the emergency department. Many people with sickle cell disease report challenges and barriers when seeking treatment in emergency department settings. There are several steps that emergency providers can take to improve care for people with sickle cell disease when they are in the emergency department.

 

Resources for Patients and Families

We provide resources and information for people diagnosed with sickle cell on how to receive assistance and care through the Sickle Cell Foundations and Clinics around the state. Individuals can contact the Genetic Diseases Program for the Sickle Cell Foundation and Clinic in your region for help.

 

Additional Resources