Sickle Cell Disease Sickle Cell Disease

Sickle Cell Disease

SCD is an inherited blood disorder that affects red blood cells. Red blood cells contain hemoglobin which allows red blood cells to carry oxygen from the air in the lungs to all parts of the body.

Normal red blood cells contain hemoglobin A. In contrast, the bone marrow of people with SCD produces red blood cells with a different form of hemoglobin called hemoglobin S (S stands for sickle). When a person has SCD, rather than remaining round, smooth and flexible, the red blood cells become sickle (crescent) shaped, inflexible, and sticky as they release oxygen to other tissues in the body.

Normal red blood cells live for about 120 days before they are replaced with new ones. In sharp contrast, sickle-shaped red blood cells are destroyed faster, in about 16 days, and cannot always be replaced quickly enough. As a result people with SCD are often anemic. The complications of sickle cell disease occur when sickle-shaped red blood cells block veins which then can cause pain in the arms, legs, back and stomach, bones, skin and other parts of the body. Tissue that does not receive normal blood flow eventually becomes damaged.

Currently there is no universal cure for sickle cell disease.

Types of Sickle Cell Disease

There are several types of sickle cell disease. The most common are:

  • Sickle Cell Anemia (SS)
  • Sickle-Hemoglobin C Disease (SC)
  • Sickle β+-thalassemia and Sickle β°-thalassemia

Emmaus Life Sciences is in clinical development of an experimental treatment approach covered under US Patent No. 5,693,671 to Niihara, et al, of which the company is the exclusive worldwide licensee. The Phase 3 clinical trial was completed in December 2013.  Emmaus Medical’s treatment will consist of, if FDA approved, patients orally consuming pharmaceutical grade L-glutamine on a daily basis to treat some of the symptoms of SCD.

 

Additional Resources

Sickle Cell Disease Association of America, Inc.

Sickle Cell Disease Foundation of California

MedlinePlus, health information from the world’s largest medical library, the National Library of Medicine

Center for Disease Control and Prevention, Hemoglobin S Allele and Sickle Cell Disease, an excellent article about sickle cell genetics and epidemiology

The Sickle Cell Information Center, a broad range of information for the public and professionals

National Organization for Rare Disorders, Inc., a portal for all rare diseases

ClinicalTrials.gov, linking patients to medical research, a search engine for clinical trials in different diseases

The Management of Sickle Cell Disease, National Institutes of Health, National Heart, Lung, and Blood Institute