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Rare Disease

Sickle Cell Disease

What is Sickle Cell Disease?

Sickle cell disease (SCD) comprises a set of hereditary disorders affecting red blood cells. These cells typically carry hemoglobin, a protein vital for oxygen transport. Normally, red blood cells are round and flexible, facilitating oxygen delivery throughout the body’s tissues via small blood vessels. However, in individuals with SCD, the hemoglobin is anomalous, resulting in rigid, stick-shaped cells resembling a farming implement called a “sickle.” These sickle cells have a shortened lifespan, leading to a chronic shortage of red blood cells. Furthermore, their propensity to become lodged in narrow blood vessels impedes blood flow, precipitating pain, and various serious complications such as infection, acute chest syndrome, and stroke.

What causes SCD?

SCD is a genetic condition that is present at birth. It is inherited when a child receives two genes—one from each parent—that code for abnormal hemoglobin.

What are the types of SCD?

There are several types of SCD. Below are the most common types of SCD:

HbSS

People who have this form of SCD inherit two genes, one from each parent, that code for hemoglobin “S.” Hemoglobin S is an abnormal form of hemoglobin that causes the red cells to become rigid, and sickle shaped. This is commonly called sickle cell anemia and is usually the most severe form of the disease.

HbSC

People who have this form of SCD inherit a hemoglobin “S” gene from one parent and a gene for a different type of abnormal hemoglobin called “C” from the other parent. This is usually a milder form of SCD.

HbS beta thalassemia

People who have this form of SCD inherit a hemoglobin “S” gene from one parent and a gene for beta thalassemia, another type of hemoglobin abnormality, from the other parent. There are two types of beta thalassemia: “zero” (HbS beta0) and “plus” (HbS beta+). Those with HbS beta0-thalassemia usually have a severe form of SCD. People with HbS beta+-thalassemia tend to have a milder form of SCD.

There are a few rare types of SCD, such as the following: 

HbSD, HbSE, and HbSO

People who have these forms of SCD inherit one hemoglobin “S” gene and one gene that codes for another abnormal type of hemoglobin (“D”, “E”, or “O”). The severity of these rarer types of SCD varies.

What is the treatment for SCD?
  • Treatment for sickle cell disease typically involves a combination of medications such as hydroxyurea for pain and crisis management, blood transfusions to increase normal red blood cell counts, hydration to prevent crises, folic acid supplementation to support red blood cell production, and in severe cases, bone marrow or stem cell transplants may be considered. Additionally, managing complications like infections, acute chest syndrome, and stroke with antibiotics, oxygen therapy, and other supportive measures is crucial. Lifestyle modifications including avoiding triggers like extreme temperatures and dehydration and maintaining a healthy lifestyle through regular physical activity and a balanced diet, play key roles in managing the condition and improving quality of life. Close collaboration with healthcare providers is essential to tailor treatment plans to individual needs and optimize outcomes.
SCD Reporting

Please fill out this form.

Pursuant to NRS 439.4921 REPORTING AND ANALYZING INFORMATION ON SICKLE CELL DISEASE AND ITS VARIANTS, health facilities that are required to report to the SCD registries include: 

  • Hospitals
  • Medical laboratories
  • Other facilities that provide screening, diagnostic or therapeutic services to patients living with sickle cell or lupus and their variants.

These reporting health facilities shall report on: 

  1. The name address, age, and ethnicity of the patient. 
  2. The variant of sickle cell disease or lupus with the patient has been diagnosed. 
  3. The method of treatment, including without limitation, any opioid prescribed for the patient has adequate access to that opioid. 
  4. Any other disease from which the patient suffers including, without limitation, pneumonia, asthma, and gall bladder disease.
  5. If the patient diagnosed with sickle cell disease or lupus and their variants dies, his or her age of death. 

Reporting requirements include fully completing the reporting form. The reporting form can be sent through a secure email to DPBHRDR@health.nv.gov or faxed to 775-684-5999. 

The fillable PDF reporting form can be found under the Rare Disease Program Resources, SCD Subsection under SCD Reporting at the top of this dropdown, or obtained by contacting the Lupus and Other Rare Diseases Project Coordinator, Ashlyn Torrez at atorrez@health.nv.gov or by phone 775-447-0263. 

For updated guidance, review the Division of Public and Behavioral Health Technical Bulletin web page regularly. Contact Ashlyn Torrez for other questions regarding reporting guidance for sickle cell disease and their variants.

Where can I find more information about SCD?