About Sickle Cell Disease


What is sickle cell disease?

Through a protein called hemoglobin, red blood cells carry oxygen throughout the body. Red bloods cells are normally flexible and round. However, SCD causes your hemoglobin to form into hard, sticky, and crescent or sickle shaped rods in the red blood cells.

Sickle-shaped cells make it difficult for hemoglobin to flow through the blood vessels, thus blocking or slowing blood flow to various organs in the body. When this blockage of blood cells happens, oxygen cannot get to those organs, which can cause intense pain, known as pain crisis, pain episode, or vaso-occlusive (VOC) pain crisis.

Additionally, sickled cells break apart easily and die quicker than normal red cells. When your body cannot produce enough healthy red blood cells to replace the ones lost, this condition is called anemia.

Quick Facts

  • Approximately 3 million people in the United States and 300 million worldwide are carriers of sickle cell trait—many are unaware of their trait status.
  • Every child born in the U.S. is tested for sickle cell disease at birth.
  • Worldwide, over 300,000 infants are born with sickle cell disease each year, and 1,800 to 2,000 infants in the U.S.

Types of sickle cell

Sickle cell genes are inherited, one from each parent. The figure below shows how each of the two inherited genes determine the type of sickle cell you have.

For example, in order to have sickle cell anemia, you must inherit a sickle "S" gene from both mother and father - HbSS. For those with sickle cell trait, you must inherit the sickle "S" gene and a normal "A" gene - HbSA. 

GENES:

Hb= hemoglobin 

A = normal hemoglobin 

S = sickle hemoglobin 

TYPES OF SICKLE CELL:

  • HbSS = sickle cell anemia 
  • HbSC = hemoglobin SC disease 
  • HbSβ thal = sickle beta thalassemia 
  • HbSA = sickle cell trait 
  • HbSD*HbSE*and HbSO* 

 *other rare forms 

Learn more about sickle cell trait >>

How is sickle cell disease diagnosed?

A blood test is used to diagnose sickle cell disease. Newborn babies delivered in the U.S. are routinely screened for sickle cell at birth. If you are unsure of your status, please contact our office to make an appointment for testing.

How does sickle cell disease affect your body?

Sickle cell disease affects each person differently. Some of the more common complications include:

  • Pain crisis
  • Fatigue
  • Swelling of hands and feet
  • Organ, tissue, and joint damage
  • Pneumonia or acute chest syndrome
  • Infections
  • Vision problems
  • Jaundice (yellowing of skin and whites of eyes)
  • Stroke
  • Leg ulcers
  • Priapism (a painful continuous erection)
  • Pulmonary hypertension

For a more detailed list, visit the National Heart, Lung, and Blood Institute.

Treatment/Management

A bone marrow or stem cell transplant is the only cure for sickle cell disease. However, there are other methods used to manage symptoms and complications associated with the disease. Those options include:

  • Blood transfusions
  • Pain medications
  • Hydroxyurea
  • Antibiotics

Bone Marrow Transplant study logoAugusta University is currently part of a large Bone Marrow Transplant (BMT) study funded by the National Institutes of Health. This study will help clinicians and researchers determine if bone marrow transplantations should be considered standard of care for people with sickle cell disease. For more information, please visit the Center for Blood Disorders research page or contact our research team at 706-721-2171.