September 27, 2022 Tatyana Cohen, PharmD, AE-C, IgCP, Director of Innovative Therapy

Actively Partnering with Health Systems on Rare and Genetic Diseases: Sickle Cell Disease

September is National Sickle Cell Awareness Month as designated by Congress to help focus attention on the need for research and treatment of sickle cell disease (SCD).

Sickle cell disease (SCD) is a hereditary red blood cell disorder. People with SCD have an abnormal hemoglobin type termed hemoglobin “S”, referring to the sickle shape of affected cells. The changes in the hemoglobin structure inhibit oxygen transport and cause sickle cells to stick together, leading to various SCD symptoms and complications. Each patient may experience different symptoms: chronic hemolytic anemia, pain crises, inflammation, stroke, infections, and many others.

GARD is a program of the National Institutes of Health (NIH) that provides free access to reliable, easy to understand information about genetic and rare diseases. GARD defines a rare disease as one that affects fewer than 200,000 people in the United States. SCD is one of about 7,000 rare diseases that affects around 100,000 individuals in the United States. People of African descent make up 90% of the population with sickle cell in the US, with 1 in every 365 Black births. This disease may affect many other races and ethnic groups, including Hispanic, southern European, Middle Eastern, and Asian Indian.

Anemia and pain are the most common symptoms of SCD. Anemia causes patients to be weak and fatigued. Pain episodes can occur suddenly and anywhere in the patient’s body. Most often, pain presents in the bones and abdomen and may last for days to over a week or continue long term and become chronic. Complications of SCD may lead to damage to the brain, lungs, kidneys, and joints.

SCD is a chronic, lifelong condition. Even though it is not yet possible to prevent all symptoms, early diagnosis and treatment can reduce the risk of complications.

Hydroxyurea was the only treatment option for SCD patients for about 20 years. However, recent advances in the treatment of SCD include specialty pharmacy medications (L-glutamine, crizanlizumab, and voxeletor) which help prevent the sickling of red blood cells and reduce pain crises. Because of the expense of specialty medications (estimated monthly cost of voxeletor is $10,400 dollars vs generic hydroxyurea is $30 dollars) patients with SCD may encounter obstacles in accessing needed treatment and paying for it. The Shields Health Solution (Shields) care model is built around putting the patient first. By partnering with integrated health systems nationwide, Shields is uniquely positioned to provide high-touch service for patients with complex conditions such as SCD. We are laser focused on knocking down barriers to care, financial or otherwise, that impact the ability of patients with rare diseases to access and afford needed medications. By identifying financial assistance (FA), our team can reduce out of pocket expenses and increase medication adherence and therapy effectiveness.

Ongoing gene therapy research may be a possible cure for SCD. The first gene therapy medication may be on the market as soon as 2023. What a fascinating time to be in the health care and specialty pharmacy field, where hope for possible cure is around the corner! Shields is proud to raise awareness about Sickle cell disease, and to actively work with our health system partners and their SCD patients until curative treatment is available.

For more information about SCD Awareness, visit

For more information about Shields and our care model, visit