Welcome to the Rare Classroom, a new series from Patient Worthy. Rare Classroom is designed for the curious reader who wants to get informed on some of the rarest, most mysterious diseases and conditions. There are thousands of rare diseases out there, but only a very small number of them have viable treatments and regularly make the news. This series is an opportunity to learn the basics about some of the diseases that almost no one hears much about or that we otherwise haven’t been able to report on very often.

Eyes front and ears open. Class is now in session.

The rare disease that we will be learning about today is:

Sickle Cell Disease

What is Sickle Cell Disease?

• Sickle cell disease is characterized by intermittent vaso-occlusive events and chronic hemolytic anemia​
• SCD affects millions of people throughout the world​
• The most common and most severe type of sickle cell disease is called sickle cell anemia​
• SCD affects approximately 100,000 Americans​
• As oxygen is released from sickle hemoglobin, it sticks together and forms long rods, which damage and change the shape of the red blood cell, making sickle red blood cells​
• Globally, estimated prevalence is 25 million and about 300,000 patients are born each year with the disease​
• In the U.S. and E.U. prevalence is estimated at 150,000 and about 3,000 patients are born each year with the disease​
• SCD occurs among about 1 out of every 365 Black or African-American births​
• SCD occurs among about 1 out of every 16,300 Hispanic-American births​

How Do You Get It?

• Sickle cell disease is an inherited disease caused by a mutation in the beta-globin gene that results in sickle-shaped red blood cells which cause chronic anemia
  • To inherit SCD both parents must carry a sickle cell gene​
  • If both parents have sickle cell trait, each of their children will have a 25% chance of having SCD​​
• Sickle cell disease is caused by a genetic abnormality in the gene for hemoglobin, which results in the production of sickle hemoglobin​
  • Occurs when a child inherits two sickle hemoglobin genes, one from each parent​
  • People who inherit only one sickle hemoglobin gene are carriers and have the sickle cell trait, but do not have anemia or painful sickle cell crises​
• Affects mostly those whose ancestors came from sub-Saharan Africa, South America, the Caribbean, and Central America; Saudi Arabia, India, and Mediterranean countries​

What Are The Symptoms?

• Although sickle cell disease is inherited, symptoms may not begin to appear until 5 or 6 months of age​
• ​Most of the symptoms of SCD are caused by complications of the disease​
• Early symptoms of the illness can include:
  • Painful swelling of hands and feet​
  • Fatigue​
  • Jaundice​
  • Delayed growth and puberty ​​
• Major complications can appear as the disease progresses, such as:
  • Pain crises, which can affect almost anywhere in the body and can become very severe
    • These can begin at anytime but are often brought on by illness, stress, dehydration, or temperature changes​
  • Chronic pain​
  • Severe anemia ​
  • Splenic sequestration crisis which is an enlarging of the spleen due to red blood cells becoming trapped, this can result in permanent damage to the spleen​
  • Infections, often due to a damaged spleen ​
  • Stroke​
  • Eye problems​
  • Organ damage​

How Is It Treated?

• It is vital that a person with SCD visits their physician frequently for health maintenance to prevent complications​
• Each physician will typically discuss and document a specific treatment regimen for each patient with SCD​
• Managing pain crises and chronic pain is a primary concern, if this cannot be managed at home a patient will need to visit a SCD day center or an emergency room to receive stronger medications and IV fluids​
  • Hydroxyurea is a medication that may be prescribed to reduce sickle cell crises and complications, however, it does not eliminate them
  • Crises can affect different areas/organs of the body
• Blood transfusions may also be used to help raise the number of normal red blood cells and to treat complications from SCD, such as anemia​
• Currently, allogeneic hematopoietic stem cell transplantation (HSCT)/bone marrow transplant is the only cure for SCD; typically only used in childhood
• SCD is a disease that progressively worsens over time​
• Poor quality of life due to chronic pain episodes and complications of SCD​
• Life expectancy is typically shortened for those who have the disease (50s)​

Where Can I Learn More???

• Learn more about this disease from the Dreamsickle Kids Foundation.
• Check out our cornerstone on this disease here.