Connecting Care to Those with Rare

Sickle Cell Disease

We are excited to roll out our first student nurse blog submission about sickle cell disease! It is an honor to build relationships with nursing and medical programs to precept bright students eager to learn and make a difference for rare diseases in medicine.
Rare STRIDES® Nurses    Speaker’s Bureau - Make Rare Visible and learn about engaging with our Nurses Speaker's Bureau Today!

Rare STRIDES® Nurses Speaker’s Bureau

Make Rare Visible and learn about engaging with our Nurses Speaker’s Bureau Today!

Sickle cell disease (SCD) is a group of inherited rare blood disorders that affects less than 1:2000 births in the United States.  SCD causes red blood cells to become misshapen and break down, changing and contorting them into a sickle shape. The cells die early, leaving a shortage of healthy red blood cells (sickle cell anemia), and can block blood flow causing pain (sickle cell crisis). 

People with SCD inherit a gene that causes faulty red blood cells (hemoglobin “S”) to replace healthy red blood cells (hemoglobin “A”).  

The sickle-shaped red blood cells: 

  • Clog blood vessels causing episodes of pain and cutting off oxygen to tissues and organs. 
  • Get trapped in the spleen (an organ that gets rid of old cells) where they are destroyed. The body cannot replace the lost cells fast enough. As a result, the body has too few red blood cells.  This is called sickle cell anemia-a serious disease that can require frequent hospital stays. Children and young adults can die from the disease. 

In the United States, the disease occurs most often among African Americans and Hispanics of Caribbean ancestry, and Hispanic American. Throughout the world, the disease is also found among people of Arabian, Greek, Italian, Sardinian, Turkish, Maltese, and southern Asian ancestry. 

A person can have a mixture of normal and faulty hemoglobin in their red blood cells without having sickle cell disease. This condition is called “sickle cell trait.” People with sickle cell trait have enough normal hemoglobin in their red blood cells to prevent the cells from sickling. One in 12 African Americans in the United States has sickle cell trait.  People with sickle cell trait do not have sickle cell disease. They also usually do not develop sickle cell disease.  However, they can genetically pass the trait to their children. If two people with sickle cell trait have children together, there is a 1 in 4 chance that their children will have sickle cell anemia. 

The Genetics Of Sickle Cell Disease -
The Genetics Of Sickle Cell Disease

What are the chances that a child will be born with sickle cell anemia or sickle cell trait? 

If you and your partner both have sickle cell trait, your child has a 25% chance of being born with sickle cell anemia with each pregnancy. If only one of you has sickle cell trait, your child cannot be born with sickle cell anemia, but there is a 50% chance that your child will be born with sickle cell trait with each pregnancy. 

Symptoms of sickle cell disease may include:  

  • Periods of severe pain that can last a few hours to a few days 
  • Fatigue and Weakness
  • Blood clots 
  • Organ Damage
  • Swelling in hands and feet 
  • Arthritic pain  
  • Chest Pain
  • Bone Pain
  • Difficulty Breathing
  • Chronic neuropathic pain (nerve pain) 
  • Life-threatening infections 
  • Anemia  

All newborns born in the United States are tested for Sickle Cell Disease. The best treatment for SCD is prevention.  Treatments may include: medications, pain management, blood transfusions, folic acid and when indicated stem cell transplant. 

I do not personally have this condition nor does anyone that I know. However, as I started learning about SCD in my nursing class, I realized that it is still a little known condition, and it’s often misunderstood and undertreated.  The people who live with SCD may have a poor quality of life.  As a nursing student I realize there are many areas that I can address by applying the nursing process and nursing diagnoses.

Pain, fatigue, isolation, need for education for the patient, their families and community members are all important nursing diagnoses that I as a nursing student or nurse can address.  I can serve as an advocate for patients with rare conditions and for underserved populations. SCD affects 0.6% of the African American population in the United States and is common in people from India, Central America, and the Arabian Peninsula, and the Hispanic population.  The people at risk for or who live with sickle cell disease may be faced with additional challenges such as lower income with minimal resources or even low quality health insurance. Therefore, they may need help accessing care, medicine, free clinics, meal delivery, and possibly home visits. Furthermore, genetic counseling and family planning support is important for people who have sickle cell disease and want to know more about risk factors to their children and prevention.   

Inpatient and community nurses can play an important role in the screening, assessment, treatment, and ongoing care of patients with sickle cell disease.  After being part of this learning opportunity, I am very excited about being a community nurse and working with rare and underserved populations because I can actively participate today and make a difference. Blogging is a great way to begin!