How is Sickle Cell Disease (SCD) Diagnosed?

Diagnosis

An SCD or sickle cell anemia diagnosis is determined by a simple blood test. In the United States, this blood test usually is given as part of routine newborn screening. Blood samples are also taken in order to diagnose older children and adults.

Sickle cell disease can be detected in an unborn child. A sample of amniotic fluid (the liquid surrounding the baby) is taken from the womb and tested. If you are at risk for having a child with SCD, talk to your doctor about genetic testing.

Signs & Symptoms of Sickle Cell Disease

Symptoms

Sickle cell disease treatments typically focus on alleviating pain, symptoms, and health complications related to the disease. Treatments may include medications and blood transfusions. A stem cell transplant is the only known procedure that could cure sickle cell anemia.

Medications for Sickle Cell Treatment

SCD is a lifelong condition that may worsen over time. There are medications that act as treatments for sickle cell disease symptoms and complications to lengthen and improve quality of life, including:

  • Hydroxyurea. Taken daily, hydroxyurea can help make rigid and crescent-shaped blood cells rounder and more flexible. Given to patients two years and older, it may reduce the need for blood transfusions and the frequency of pain crises.
  • L-glutamine (Endari). This drug is administered as an oral powder to patients 5 years and older. It can help reduce the frequency of pain crises.
  • Voxelotor. An oral drug that may lower the risk of anemia and increase blood flow. It is given to treat sickle cell disease in adults and children over the age of 4.  
  • Crizanlizumab (Adakveo). A medication used to reduce the frequency of pain crises. It is given by injection to adults and to children above the age of 16.

Some of the medications for sickle cell disease can have mild to severe side effects. Talk to your doctor about the benefits and risks of these treatment options.

Blood Transfusions

Treatments for sickle cells disease may include frequent blood transfusions. During a blood cell transfusion, red blood cells from a supply of healthy, donated blood are given intravenously to a person with SCD.

Blood transfusions can help treat severe anemia, lower stroke risks, and reduce other symptoms and complications.

Stem Cell Transplants

Also known as bone marrow transplants, stem cell transplant treatments for sickle cell anemia involve removing bone marrow affected by SCD and replacing it with healthy bone marrow from a donor.

While stem cell transplants are the only known possible cure for SCD, there are significant risks involved, including death. The procedure is typically recommended only for children with severe complications of sickle cell anemia.

Gene Therapy

Gene therapy is now an emerging treatment for sickle cell. Columbia is a participating center in some gene therapy trials.

FAQs

FAQs

Yes. It’s inherited when a baby receives two sickle cell genes, one from each parent.

Sickle cell anemia is a lifelong condition. The only known possible cure is a stem cell transplant, a procedure which comes with high risks.

There are around 100,000 cases of SCD in the United States. African American babies have the highest chance of being born with the disease, at a rate of one out of every 365 births.

Abnormally shaped red blood cells may become lodged in the blood vessels and block blood flow, causing a lack of oxygen-rich blood. This may damage organs and nerves and result in mild to severe health conditions.

A sickle-cell is shaped like a crescent moon.

Get Care

Trust NewYork-Presbyterian for Sickle Cell Disease Treatment

At NewYork-Presbyterian, we provide comprehensive treatment and long-term solutions for living with sickle cell disease. NewYork-Presbyterian is a member of the National Sickle Cell Disease Clinic Trials Network, participating in clinical trials aimed at improving the futures of children born with SCD. Our compassionate pediatric teams are experienced with sickle cell symptoms and its complications. Expert doctors provide the latest SCD treatments and therapeutic options for your complete care.

Sickle cell disease affects the blood, the body, and the family. NewYork-Presbyterian treats the whole child with a team of pediatric hematologists, nurse practitioners, social workers, and emotional support experts. We offer support to children and their families to better understand and manage SCD.

Contact us now to make an appointment.