Sickle cell disease1 (SCD) is a group of inherited red blood cell disorders. In SCD, the red blood cells become hard and sticky and look like a C-shaped farm tool called a “sickle.” People with SCD can live full lives and enjoy most of the activities that other people do. If you have SCD, it’s important to learn how to stay as healthy as possible.
Did You Know this about Sickle Cell Disease in the United States2: (From the CDC)
- SCD affects approximately 100,000 Americans.
- 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.
- About 1 in 13 Black or African-American babies is born with sickle cell trait (SCT).
Types of SCD3
Following are the most common types of SCD:
People who have this form of SCD inherit two sickle cell genes (“S”), one from each parent. This is commonly called sickle cell anemia and is usually the most severe form of the disease.
People who have this form of SCD inherit a sickle cell gene (“S”) from one parent and from the other parent a gene for an abnormal hemoglobin called “C.” Hemoglobin is a protein that allows red blood cells to carry oxygen to all parts of the body. This is usually a milder form of SCD.
HbS beta thalassemia
People who have this form of SCD inherit one sickle cell gene (“S”) from one parent and one gene for beta thalassemia, another type of anemia, from the other parent. There are two types of beta thalassemia: “0” and “+.” Those with HbS beta 0-thalassemia usually have a severe form of SCD. People with HbS beta +-thalassemia tend to have a milder form of SCD.
There also are a few rare types of SCD:
HbSD, HbSE, and HbSO
People who have these forms of SCD inherit one sickle cell gene (“S”) and one gene from an abnormal type of hemoglobin (“D,” “E,” or “O”). Hemoglobin is a protein that allows red blood cells to carry oxygen to all parts of the body. The severity of these rarer types of SCD varies.
Cause of Sickle Cell Disease
SCD is a genetic condition that is present at birth. It is inherited when a child receives two sickle cell genes—one from each parent.
SCD is diagnosed with a simple blood test. It most often is found at birth during routine newborn screening tests at the hospital. In addition, SCD can be diagnosed before birth.
Because children with SCD are at an increased risk of infection and other health problems, early diagnosis and treatment are important.
You can call your local sickle cell organization to find out how to get tested.
How Much Do You Know About Sickle Cell Disease? (Take the Quiz)
Try your hand at this quiz. Read each question and then write down the answer you think is correct. If you want more information before selecting your choice, just click the CORRECT button beside the question.
Click on this link to take the Sickle Cell Quiz from the Centers for Disease Control (CDC) https://www.cdc.gov/ncbddd/sicklecell/quiz/index.html
FDA News Release4
(July 7, 2017)
The U.S. Food and Drug Administration today approved Endari (L-glutamine oral powder) for patients age five years and older with sickle cell disease to reduce severe complications associated with the blood disorder.
“Endari is the first treatment approved for patients with sickle cell disease in almost 20 years,” said Richard Pazdur, M.D., acting director of the Office of Hematology and Oncology Products in the FDA’s Center for Drug Evaluation and Research and director of the FDA’s Oncology Center of Excellence. “Until now, only one other drug was approved for patients living with this serious, debilitating condition.”
Sickle cell disease is an inherited blood disorder in which the red blood cells are abnormally shaped (in a crescent, or “sickle,” shape). This restricts the flow in blood vessels and limits oxygen delivery to the body’s tissues, leading to severe pain and organ damage. According to the National Institutes of Health, approximately 100,000 people in the United States have sickle cell disease. The disease occurs most often in African-Americans, Latinos and other minority groups. The average life expectancy for patients with sickle cell disease in the United States is approximately 40 to 60 years.
The safety and efficacy of Endari were studied in a randomized trial of patients ages five to 58 years old with sickle cell disease who had two or more painful crises within the 12 months prior to enrollment in the trial. Patients were assigned randomly to treatment with Endari or placebo, and the effect of treatment was evaluated over 48 weeks. Patients who were treated with Endari experienced fewer hospital visits for pain treated with a parenterally administered narcotic or ketorolac (sickle cell crises), on average, compared to patients who received a placebo (median 3 vs. median 4), fewer hospitalizations for sickle cell pain (median 2 vs. median 3), and fewer days in the hospital (median 6.5 days vs. median 11 days). Patients who received Endari also had fewer occurrences of acute chest syndrome (a life-threatening complication of sickle cell disease) compared with patients who received a placebo (8.6 percent vs. 23.1 percent).
Common side effects of Endari include constipation, nausea, headache, abdominal pain, cough, pain in the extremities, back pain and chest pain.
Endari received Orphan Drug designation for this use, which provides incentives to assist and encourage the development of drugs for rare diseases. In addition, development of this drug was in part supported by the FDA Orphan Products Grants Program, which provides grants for clinical studies on safety and/or effectiveness of products for use in rare diseases or conditions.
The FDA granted the approval of Endari to Emmaus Medical Inc.
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