• A Cure For Sickle Cell Disease?

    by Sharan Abdul-Rahman, MD
    on Dec 9th, 2015

Ask any parent who has a child with sickle cell disease - it can be a devastating genetic disorder.

Sickle Cell Disease is the most common inherited genetic disorder. While two parents with sickle cell trait have a 1:4 chance of having a child with sickle cell disease, prenatal detection is only possible using invasive obstetrical procedures such as amniocentesis or chorionic villus sampling.

All newborns in the US are tested for sickle cell disease. If detected, there is no known way to correct the genetic abnormality. Sickle cell disease affects the red blood cells which are produced from the stem cells in the bone marrow. Those diagnosed with sickle cell disease will with have abnormally shaped red blood cells. Having these abnormal red blood cells put them at risk for episodes of extreme pain, stroke and shortens their life span. Treatment has primarily been blood transfusions to "replace" the sickle-shaped red blood cells and medications.

From 1991 to 2013, a study was conducted with 1000 patients with severe sickle cell disease from 23 countries. They were given stem cell/ bone marrow transplants. The donors were their siblings. Eighty five percent of the patients were younger than 16 years of age; the median age was 9 years. The were approximately an equal number of males and females. These patients were followed post transplant for an average of 45 months.

For approximately 90% of these patients, the transplant was successful and the patients were free of sickle cell events during the period of observation.

Stem cell transplants are potentially dangerous medical procedures with risks including infection, rejection and death. These results suggest that there is a potential cure for children with sickle cell disease.

Author Sharan Abdul-Rahman, MD

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