What is sickle cell disease (SCD)?
Sickle cell disease (SCD) is a group of inherited red blood cell disorders. If you have SCD, there is a problem with your hemoglobin. Hemoglobin is a protein in red blood cells that carries oxygen throughout the body. With SCD, the hemoglobin forms into stiff rods within the red blood cells. This changes the shape of the red blood cells. The cells are supposed to be disc-shaped, but this changes them into a crescent, or sickle, shape.
The sickle-shaped cells are not flexible and cannot change shape easily. Many of them burst apart as they move through your blood vessels. The sickle cells usually only last 10 to 20 days, instead of the normal 90 to 120 days. Your body may have trouble making enough new cells to replace the ones that you lost. Because of this, you may not have enough red blood cells. This is a condition called anemia, and it can make you feel tired.
The sickle-shaped cells can also stick to vessel walls, causing a blockage that slows or stops the flow of blood. When this happens, oxygen can't reach nearby tissues. The lack of oxygen can cause attacks of sudden, severe pain, called pain crises. These attacks can occur without warning. If you get one, you might need to go to the hospital for treatment.
What causes sickle cell disease (SCD)?
The cause of SCD is a defective gene, called a sickle cell gene. People with the disease are born with two sickle cell genes, one from each parent.
If you are born with one sickle cell gene, it's called sickle cell trait. People with sickle cell trait are generally healthy, but they can pass the defective gene on to their children.
Who is at risk for sickle cell disease (SCD)?
In the United States, most of the people with SCD are African Americans:
About 1 in 13 African American babies is born with sickle cell trait
About 1 in every 365 black children is born with sickle cell disease
SCD also affects some people who come from Hispanic, southern European, Middle Eastern, or Asian Indian backgrounds.
What are the symptoms of sickle cell disease (SCD)?
People with SCD start to have signs of the disease during the first year of life, usually around 5 months of age. Early symptoms of SCD may include:
Painful swelling of the hands and feet
Fatigue or fussiness from anemia
A yellowish color of the skin (jaundice) or the whites of the eyes (icterus)
The effects of SCD vary from person to person and can change over time. Most of the signs and symptoms of SCD are related to complications of the disease. They may include severe pain, anemia, organ damage, and infections.
Pain areas: in the joints
Pain types: can be sudden in the body
Whole body: dizziness, fatigue, low oxygen in the body, or malaise
Urinary: inability to make concentrated or dilute urine or blood in urine
Also common: abnormal breakdown of red blood cells, inflamed fingers or toes, pallor, shortness of breath, or yellow skin and eyes
Vitamin B6 has been shown to have anti-sickling effects on the red blood cells. It can also correct vitamin B6 deficiency, which is common in people with sickle cell anemia.
Treatment
Hydroxyurea (Droxia, Hydrea, Siklos). Daily hydroxyurea reduces the frequency of painful crises and might reduce the need for blood transfusions and hospitalizations. ...
L-glutamine oral powder (Endari). ...
Crizanlizumab (Adakveo). ...
Pain-relieving medications. ...
Voxelotor (Oxbryta).
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